muscular atrophy

Summary

Summary: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.

Top Publications

  1. pmc Foxo transcription factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy
    Marco Sandri
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Cell 117:399-412. 2004
  2. ncbi FoxO3 coordinately activates protein degradation by the autophagic/lysosomal and proteasomal pathways in atrophying muscle cells
    Jinghui Zhao
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Cell Metab 6:472-83. 2007
  3. ncbi FoxO3 controls autophagy in skeletal muscle in vivo
    Cristina Mammucari
    Venetian Institute of Molecular Medicine, 35129 Padova, Italy
    Cell Metab 6:458-71. 2007
  4. ncbi Akt/mTOR pathway is a crucial regulator of skeletal muscle hypertrophy and can prevent muscle atrophy in vivo
    S C Bodine
    Regeneron Pharmaceuticals, Inc 777 Old Saw Mill River Road, Tarrytown, New York 10591 6707, USA
    Nat Cell Biol 3:1014-9. 2001
  5. ncbi Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression
    Stewart H Lecker
    Renal Unit, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    FASEB J 18:39-51. 2004
  6. ncbi IKKbeta/NF-kappaB activation causes severe muscle wasting in mice
    Dongsheng Cai
    Research Division, Joslin Diabetes Center, One Joslin Place, Boston, MA 02215, USA
    Cell 119:285-98. 2004
  7. pmc Atrogin-1, a muscle-specific F-box protein highly expressed during muscle atrophy
    M D Gomes
    Department of Cell Biology, Harvard Medical School, 240 Longwood Avenue, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 98:14440-5. 2001
  8. ncbi Signaling in muscle atrophy and hypertrophy
    Marco Sandri
    Department of Biomedical Sciences, University of Padova, Padova, Italy
    Physiology (Bethesda) 23:160-70. 2008
  9. ncbi The IGF-1/PI3K/Akt pathway prevents expression of muscle atrophy-induced ubiquitin ligases by inhibiting FOXO transcription factors
    Trevor N Stitt
    Regeneron Pharmaceuticals, Inc, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA
    Mol Cell 14:395-403. 2004
  10. doi Reversal of cancer cachexia and muscle wasting by ActRIIB antagonism leads to prolonged survival
    Xiaolan Zhou
    Departments of Metabolic Disorders and Protein Science, Amgen Research, Thousand Oaks, CA 91320, USA
    Cell 142:531-43. 2010

Detail Information

Publications236 found, 100 shown here

  1. pmc Foxo transcription factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy
    Marco Sandri
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Cell 117:399-412. 2004
    ..Thus, forkhead factor(s) play a critical role in the development of muscle atrophy, and inhibition of Foxo factors is an attractive approach to combat muscle wasting...
  2. ncbi FoxO3 coordinately activates protein degradation by the autophagic/lysosomal and proteasomal pathways in atrophying muscle cells
    Jinghui Zhao
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Cell Metab 6:472-83. 2007
    ..These studies indicate that decreased IGF-1-PI3K-Akt signaling activates autophagy not only through mTOR but also more slowly by a transcription-dependent mechanism involving FoxO3...
  3. ncbi FoxO3 controls autophagy in skeletal muscle in vivo
    Cristina Mammucari
    Venetian Institute of Molecular Medicine, 35129 Padova, Italy
    Cell Metab 6:458-71. 2007
    ..These findings point to FoxO3 and Bnip3 as potential therapeutic targets in muscle wasting disorders and other degenerative and neoplastic diseases in which autophagy is involved...
  4. ncbi Akt/mTOR pathway is a crucial regulator of skeletal muscle hypertrophy and can prevent muscle atrophy in vivo
    S C Bodine
    Regeneron Pharmaceuticals, Inc 777 Old Saw Mill River Road, Tarrytown, New York 10591 6707, USA
    Nat Cell Biol 3:1014-9. 2001
    ....
  5. ncbi Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression
    Stewart H Lecker
    Renal Unit, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    FASEB J 18:39-51. 2004
    ..Thus, different types of muscle atrophy share a common transcriptional program that is activated in many systemic diseases...
  6. ncbi IKKbeta/NF-kappaB activation causes severe muscle wasting in mice
    Dongsheng Cai
    Research Division, Joslin Diabetes Center, One Joslin Place, Boston, MA 02215, USA
    Cell 119:285-98. 2004
    ....
  7. pmc Atrogin-1, a muscle-specific F-box protein highly expressed during muscle atrophy
    M D Gomes
    Department of Cell Biology, Harvard Medical School, 240 Longwood Avenue, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 98:14440-5. 2001
    ..Atrogin-1 is one of the few examples of an F-box protein or Ub-protein ligase (E3) expressed in a tissue-specific manner and appears to be a critical component in the enhanced proteolysis leading to muscle atrophy in diverse diseases...
  8. ncbi Signaling in muscle atrophy and hypertrophy
    Marco Sandri
    Department of Biomedical Sciences, University of Padova, Padova, Italy
    Physiology (Bethesda) 23:160-70. 2008
    ..Understanding the signaling that regulates muscle mass may provide potential therapeutic targets for the prevention and treatment of muscle wasting in metabolic and neuromuscular diseases...
  9. ncbi The IGF-1/PI3K/Akt pathway prevents expression of muscle atrophy-induced ubiquitin ligases by inhibiting FOXO transcription factors
    Trevor N Stitt
    Regeneron Pharmaceuticals, Inc, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA
    Mol Cell 14:395-403. 2004
    ....
  10. doi Reversal of cancer cachexia and muscle wasting by ActRIIB antagonism leads to prolonged survival
    Xiaolan Zhou
    Departments of Metabolic Disorders and Protein Science, Amgen Research, Thousand Oaks, CA 91320, USA
    Cell 142:531-43. 2010
    ..Thus ActRIIB antagonism is a promising new approach for treating cancer cachexia, whose inhibition per se prolongs survival...
  11. ncbi Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    A R La Spada
    Neurology Department, University of Pennsylvania School of Medicine, Philadelphia 19104 6146
    Nature 352:77-9. 1991
    X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen insensitivity...
  12. ncbi Identification of ubiquitin ligases required for skeletal muscle atrophy
    S C Bodine
    Regeneron Pharmaceuticals, 777 Old Saw Mill River Road, Tarrytown, NY, 10591 6707, USA
    Science 294:1704-8. 2001
    ..Overexpression of MAFbx in myotubes produced atrophy, whereas mice deficient in either MAFbx or MuRF1 were found to be resistant to atrophy. These proteins are potential drug targets for the treatment of muscle atrophy...
  13. pmc During muscle atrophy, thick, but not thin, filament components are degraded by MuRF1-dependent ubiquitylation
    Shenhav Cohen
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    J Cell Biol 185:1083-95. 2009
    ..Because these proteins stabilize the thick filament, their selective ubiquitylation may facilitate thick filament disassembly. However, the thin filament components decreased by a mechanism not requiring MuRF1...
  14. ncbi Low-dose vitamin D prevents muscular atrophy and reduces falls and hip fractures in women after stroke: a randomized controlled trial
    Yoshihiro Sato
    Department of Neurology, Futase Social Insurance Hospital, Iizuka, Japan
    Cerebrovasc Dis 20:187-92. 2005
    ..The present study was undertaken to address the reduced risk of falls and hip fractures in patients with long-standing stroke by vitamin D supplementation...
  15. pmc Mitochondrial fission and remodelling contributes to muscle atrophy
    Vanina Romanello
    Dulbecco Telethon Institute at Venetian Institute of Molecular Medicine, Padova, Italy
    EMBO J 29:1774-85. 2010
    ..In muscle this results in an orderly pattern of intermyofibrillar and subsarcolemmal mitochondria. Muscular atrophy is a genetically controlled process involving the activation of the autophagy-lysosome and the ubiquitin-..
  16. pmc Targeted ablation of TRAF6 inhibits skeletal muscle wasting in mice
    Pradyut K Paul
    Anatomical Sciences and Neurobiology, University of Louisville School of Medicine, Louisville, KY 40202, USA
    J Cell Biol 191:1395-411. 2010
    ..This study unveils a novel mechanism of skeletal muscle atrophy and suggests that TRAF6 is an important therapeutic target to prevent skeletal muscle wasting...
  17. ncbi IGF-I stimulates muscle growth by suppressing protein breakdown and expression of atrophy-related ubiquitin ligases, atrogin-1 and MuRF1
    Jennifer M Sacheck
    Department of Cell Biology, Harvard Medical School, 240 Longwood Ave, Boston, MA 02115, USA
    Am J Physiol Endocrinol Metab 287:E591-601. 2004
    ..Thus an important component of growth stimulation by IGF-I, through the PI3K-Akt pathway, is its ability to rapidly suppress transcription of the atrophy-related E3 atrogin-1 and other atrogenes and degradation of myofibrillar proteins...
  18. ncbi Skeletal muscle is a primary target of SOD1G93A-mediated toxicity
    Gabriella Dobrowolny
    Institute Pasteur Cenci Bolognetti, Department of Histology and Medical Embryology, CE BEMM and IIM, Sapienza University of Rome, Via A Scarpa, 14 Rome 00161, Italy
    Cell Metab 8:425-36. 2008
    ..These data demonstrate that skeletal muscle is a primary target of SOD1(G93A) -mediated toxicity and disclose the molecular mechanism whereby oxidative stress triggers muscle atrophy...
  19. pmc The initiation factor eIF3-f is a major target for atrogin1/MAFbx function in skeletal muscle atrophy
    Julie Lagirand-Cantaloube
    Laboratoire de Génomique Fonctionnelle et Myogenèse, UMR866 Différenciation Cellulaire et Croissance, INRA UM II, Campus INRA SupAgro, Montpellier, France
    EMBO J 27:1266-76. 2008
    ..We conclude that eIF3-f is a key target that accounts for MAFbx function during muscle atrophy and has a major role in skeletal muscle hypertrophy. Thus, eIF3-f seems to be an attractive therapeutic target...
  20. ncbi Protein degradation by the ubiquitin-proteasome pathway in normal and disease states
    Stewart H Lecker
    Nephrology Division, Beth Isreal Deaconess, Harvard Medical School, Boston, Massachusetts, USA
    J Am Soc Nephrol 17:1807-19. 2006
  21. doi Skeletal muscle loss: cachexia, sarcopenia, and inactivity
    William J Evans
    Division of Geriatrics, Department of Medicine, Duke University Medical Center, Durham, NC 27709, USA
    Am J Clin Nutr 91:1123S-1127S. 2010
    ..Nutritional supplementation alone may not prevent muscle loss secondary to cachexia, but, in combination with the use of an anabolic agent, it may slow or prevent muscle loss...
  22. doi Smad2 and 3 transcription factors control muscle mass in adulthood
    Roberta Sartori
    Venetian Institute of Molecular Medicine, 35129 Padova, Italy
    Am J Physiol Cell Physiol 296:C1248-57. 2009
    ..Thus myostatin and Akt pathways cross-talk at different levels. These findings point to myostatin inhibitors as good drugs to promote muscle growth during rehabilitation, especially when they are combined with IGF-1-Akt activators...
  23. pmc Redox homeostasis, oxidative stress and disuse muscle atrophy
    Maria Antonietta Pellegrino
    Department of Physiology, University of Pavia, Pavia, Italy
    J Physiol 589:2147-60. 2011
    ..A precise approach to determine the levels of ROS in living cells in various conditions appears to be of paramount importance to define and support such hypotheses...
  24. ncbi Temporal alterations in protein signaling cascades during recovery from muscle atrophy
    Thomas E Childs
    Department of Biomedical Sciences, University of Missouri, Columbia, MO 65211, USA
    Am J Physiol Cell Physiol 285:C391-8. 2003
    ..Thus the time course of increase in molecules of signaling pathways differed as the young rat soleus muscle regrew from an atrophied state...
  25. doi TNF-alpha-mediated reduction in PGC-1alpha may impair skeletal muscle function after cigarette smoke exposure
    Kechun Tang
    Division of Physiology, Department of Medicine, University of California, San Diego, La Jolla, California 92093 0623, USA
    J Cell Physiol 222:320-7. 2010
    ....
  26. ncbi Muscle atrophy and hypertrophy signaling in patients with chronic obstructive pulmonary disease
    Mariève Doucet
    Centre de Recherche de l Hopital Laval, Institut Universitaire de Cardiologie et de Pneumologie de l Universite Laval, Laval, Quebec, Canada
    Am J Respir Crit Care Med 176:261-9. 2007
    ..The molecular mechanisms of muscle atrophy in chronic obstructive pulmonary disease (COPD) are poorly understood. In wasted animals, muscle mass is regulated by several AKT-related signaling pathways...
  27. ncbi Signaling pathways perturbing muscle mass
    David J Glass
    Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA
    Curr Opin Clin Nutr Metab Care 13:225-9. 2010
    ..To discuss the mechanisms of muscle loss during cachexia...
  28. pmc IL-6 and serum amyloid A synergy mediates angiotensin II-induced muscle wasting
    Liping Zhang
    Nephrology Division, Baylor College of Medicine, Houston, TX 77030, USA
    J Am Soc Nephrol 20:604-12. 2009
    ..Targeting the high levels of IL-6 and SAA in catabolic disorders might be a therapeutic approach to prevent muscle wasting...
  29. pmc NO production results in suspension-induced muscle atrophy through dislocation of neuronal NOS
    Naoki Suzuki
    Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Clin Invest 117:2468-76. 2007
    ..We conclude that nNOS/NO mediates muscle atrophy via regulation of Foxo transcription factors and is a new therapeutic target for disuse-induced muscle atrophy...
  30. pmc Ubiquitin ligase Cbl-b is a negative regulator for insulin-like growth factor 1 signaling during muscle atrophy caused by unloading
    Reiko Nakao
    Department of Nutritional Physiology, Institute of Health Biosciences, University of Tokushima Graduate School, Kuramoto Cho, Tokushima, Japan
    Mol Cell Biol 29:4798-811. 2009
    ..The inhibition of Cbl-b-mediated ubiquitination may be a new therapeutic strategy for unloading-mediated muscle atrophy...
  31. doi The role and regulation of MAFbx/atrogin-1 and MuRF1 in skeletal muscle atrophy
    Victoria C Foletta
    Centre for Physical Activity and Nutrition Research, School of Exercise and Nutrition Sciences, Deakin University, 221 Burwood Highway, 3125, Burwood, Australia
    Pflugers Arch 461:325-35. 2011
    ..Finally, we will comment on new approaches that may expand our knowledge of these two molecules in their control of skeletal muscle function...
  32. ncbi Reduction of skeletal muscle atrophy by a proteasome inhibitor in a rat model of denervation
    Blake C Beehler
    Cardiovascular and Metabolic Diseases Drug Discovery, Bristol Myers Squibb Pharmaceutical Research Institute, Pennington, NJ 08543, USA
    Exp Biol Med (Maywood) 231:335-41. 2006
    ..These results show that proteasome inhibition attenuates denervation-induced muscle atrophy in vivo in soleus muscles. However, this mechanism may not be operative in all types of atrophy...
  33. pmc Toll-like receptor 4 mediates lipopolysaccharide-induced muscle catabolism via coordinate activation of ubiquitin-proteasome and autophagy-lysosome pathways
    Alexander Doyle
    Department of Integrative Biology and Pharmacology, University of Texas Health Science Center, Houston, TX 77030, USA
    FASEB J 25:99-110. 2011
    ..Furthermore, TLR4 knockout or p38 MAPK inhibition abolishes LPS-induced muscle proteolysis. Thus, TLR4 mediates LPS-induced muscle catabolism via coordinate activation of the ubiquitin-proteasome and the autophagy-lysosomal pathways...
  34. doi Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres
    Capucine Trollet
    Royal Holloway, University of London, Egham, UK
    Hum Mol Genet 19:2191-207. 2010
    ..and histological analysis of the skeletal muscle of this mouse model confirmed a severe and progressive muscular atrophy associated with a reduction in muscle strength. Moreover, muscle atrophy in the A17...
  35. ncbi Mediation of IGF-1-induced skeletal myotube hypertrophy by PI(3)K/Akt/mTOR and PI(3)K/Akt/GSK3 pathways
    C Rommel
    Regeneron Pharmaceuticals, 777 Old Saw Mill River Road, Tarrytown, NY 10591-6707, USA
    Nat Cell Biol 3:1009-13. 2001
    ..In contrast, in addition to demonstrating that calcineurin does not mediate IGF-1-induced hypertrophy, we show that IGF-1 unexpectedly acts via Akt to antagonize calcineurin signalling during myotube hypertrophy...
  36. ncbi Gene profiling of skeletal muscle in an amyotrophic lateral sclerosis mouse model
    Jose Luis Gonzalez de Aguilar
    Institut National de la Sante et de la Recherche Medicale, U692, Laboratoire de Signalisations Moléculaires et Neurodégénérescence, Strasbourg, France
    Physiol Genomics 32:207-18. 2008
    ..Second, they identify specific gene regulations to be explored in the search for therapeutic strategies that could alleviate disease before motor neuron death manifests clinically...
  37. pmc Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy
    Isabella Palazzolo
    Neurogenetics Branch, NINDS, NIH, Bethesda, MD 20892, USA
    Neuron 63:316-28. 2009
    Expansion of a polyglutamine tract in the androgen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA). We previously showed that Akt-mediated phosphorylation of AR reduces ligand binding and attenuates the mutant AR toxicity...
  38. ncbi Regulation of muscle protein degradation: coordinated control of apoptotic and ubiquitin-proteasome systems by phosphatidylinositol 3 kinase
    Seoung Woo Lee
    Nephrology Division, Department of Medicine, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77555, USA
    J Am Soc Nephrol 15:1537-45. 2004
    ..When PI3K activity is low, both apoptotic and Ub-P'some pathways are activated coordinately to cause muscle proteolysis. This mechanism could increase muscle atrophy in conditions with impaired insulin responsiveness...
  39. pmc The IkappaB kinases IKKalpha and IKKbeta are necessary and sufficient for skeletal muscle atrophy
    Darin Van Gammeren
    Boston University, Boston, MA 02215, USA
    FASEB J 23:362-70. 2009
    ..These data show that both IKKalpha and IKKbeta are necessary and sufficient for physiological muscle atrophy...
  40. ncbi Skeletal muscle atrophy leads to loss and dysfunction of muscle precursor cells
    Patrick O Mitchell
    Department of Pharmacology, Emory University School of Medicine, 5024 O W Rollins Research Center, Atlanta, GA 30322, USA
    Am J Physiol Cell Physiol 287:C1753-62. 2004
    ..Upon regrowth of the atrophied muscles, these deleterious effects were reversed. Our data suggest that preventing loss or dysfunction of MPC may be a new pharmacological target during muscle atrophy...
  41. doi Ubiquitination and proteolysis in limb and respiratory muscles of patients with chronic obstructive pulmonary disease
    Richard Debigare
    P T, Centre de Recherche, Institut Universitaire de Cardiologie et de Pneumologie de Quebec, 2725, Chemin Ste Foy, PQ, G1V 4G5 Canada
    Proc Am Thorac Soc 7:84-90. 2010
    ..Based on this information, the reader should be able to understand the essential role of this pathway in the context of muscle homeostasis and to picture the coming research in this area...
  42. pmc C/EBPβ mediates tumour-induced ubiquitin ligase atrogin1/MAFbx upregulation and muscle wasting
    Guohua Zhang
    Department of Integrative Biology and Pharmacology, University of Texas Health Science Center, Houston, TX 77030, USA
    EMBO J 30:4323-35. 2011
    ..Therefore, activation of the p38β MAPK-C/EBPβ signalling pathway appears a key component of the pathogenesis of LLC tumour-induced cachexia...
  43. ncbi Mitochondrial biogenesis and fragmentation as regulators of muscle protein degradation
    Vanina Romanello
    Dulbecco Telethon Institute at Venetian Institute of Molecular Medicine, Via Orus 2, 35129 Padova, Italy
    Curr Hypertens Rep 12:433-9. 2010
    ..This article reviews the rapid progress made in the past few years regarding the role of mitochondria in the control of proteolytic systems and in the loss of muscle mass and function...
  44. pmc Akt deficiency attenuates muscle size and function but not the response to ActRIIB inhibition
    Marcus D Goncalves
    Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 5:e12707. 2010
    ..Thus, we hypothesized that mice deficient in either Akt1 or Akt2 would not respond to in vivo inhibition of ActRIIB with ActRIIB-mFc treatment...
  45. ncbi Muscle wasting in diabetic and in tumor-bearing rats: role of oxidative stress
    Raffaella Mastrocola
    Department of Experimental Medicine and Oncology, University of Turin, Corso Raffaello 30, 10125 Turin, Italy
    Free Radic Biol Med 44:584-93. 2008
    ..Moreover, despite oxidative stress being detectable in both experimental models, its contribution to muscle wasting is not comparable...
  46. pmc Absence of disturbed axonal transport in spinal and bulbar muscular atrophy
    Bilal Malik
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Hum Mol Genet 20:1776-86. 2011
    Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, is a late-onset motor neuron disease (MND) caused by an abnormal expansion of the CAG repeat in the androgen receptor (AR) gene on the X-chromosome, encoding a polyglutamine ..
  47. doi Prevention of muscle disuse atrophy by MG132 proteasome inhibitor
    Cecile Jamart
    Research Group in Muscle and Exercise Physiology, Institute of Neuroscience, Universite Catholique de Louvain, Place Pierre de Coubertin 1, Louvain la Neuve B 1348, Belgium
    Muscle Nerve 43:708-16. 2011
    ..Our goal was to determine whether in vivo administration of the proteasome inhibitor MG132 can prevent muscle atrophy caused by hindlimb unloading (HU)...
  48. pmc Inducible nitric oxide synthase (iNOS) in muscle wasting syndrome, sarcopenia, and cachexia
    Derek T Hall
    McGill University, Biochemistry Department, Goodman Cancer Center, Montreal, Canada
    Aging (Albany NY) 3:702-15. 2011
    ..In this review, we will highlight the potential for targeting the iNOS/NO pathway in the treatment of muscle loss and discuss its functional relevance in sarcopenia and cachexia...
  49. ncbi Effects of 3 days unloading on molecular regulators of muscle size in humans
    T Gustafsson
    Department of Laboratory Medicine, Section of Clinical Physiology, Karolinska Institutet, Karolinska University Hospital, 141 86 Stockholm, Sweden
    J Appl Physiol (1985) 109:721-7. 2010
    ..Further, the reported difference in gene expression pattern across muscles suggests that mechanisms regulating protein content in human skeletal muscle are influenced by phenotype and/or function...
  50. pmc Epo is relevant neither for microvascular formation nor for the new formation and maintenance of mice skeletal muscle fibres in both normoxia and hypoxia
    Luciana Hagström
    Laboratoire Réponses Cellulaires et Fonctionnelles à l Hypoxie, Universite Paris 13, EA 2363, 97017 Bobigny, France
    J Biomed Biotechnol 2010:137817. 2010
    ..EpoR mRNA is not up-regulated in both Epo-deficient and hypoxic gastrocnemius. These results suggest that muscle deconditioning observed in patients suffering from renal failure is not due to Epo deficiency...
  51. ncbi Leucine attenuates skeletal muscle wasting via inhibition of ubiquitin ligases
    Igor L Baptista
    Department of Cell and Developmental Biology, Institute of Biomedical Sciences, University of Sao Paulo, Avenida Prof Lineu Prestes, 1524, Butanta, CEP 05508 900, Sao Paulo, Brazil
    Muscle Nerve 41:800-8. 2010
    ..It is notable that leucine supplementation does not restore decreased protein synthesis driven by immobilization...
  52. ncbi Discovering pathways of sarcopenia in older adults: a role for insulin resistance on mitochondria dysfunction
    A M Abbatecola
    Scientific Direction, Italian National Research Center on Aging INRCA, Ancona, Italy
    J Nutr Health Aging 15:890-5. 2011
    ..We will specifically emphasize possible steps involved in sarcopenia over aging, including potential biomolecular mechanisms of insulin resistance on mitochondrial functioning...
  53. pmc Decreased miR-29 suppresses myogenesis in CKD
    XIAONAN H WANG
    Renal Division, Emory University, School of Medicine, Atlanta, Georgia 30322, USA
    J Am Soc Nephrol 22:2068-76. 2011
    ..These data suggest a potential mechanism for the impaired muscle cell differentiation associated with CKD...
  54. doi Human sarcopenia reveals an increase in SOCS-3 and myostatin and a reduced efficiency of Akt phosphorylation
    Bertrand Leger
    Clinique Romande de Réadaptation SuvaCare, Sion, Switzerland
    Rejuvenation Res 11:163-175B. 2008
    ..Human sarcopenia may be linked to a reduction in the activity or sensitivity of anabolic signaling proteins such as GHR, IGF-1, and Akt. TNFalpha, SOCS-3, and myostatin are potential candidates influencing this anabolic perturbation...
  55. pmc Inhibition of FoxO transcriptional activity prevents muscle fiber atrophy during cachexia and induces hypertrophy
    Sarah A Reed
    Department of Physical Therapy, 101 S Newell Dr, University of Florida, Gainesville, FL 32611, USA
    FASEB J 26:987-1000. 2012
    ....
  56. ncbi Rapamycin inhibits the growth and muscle-sparing effects of clenbuterol
    William O Kline
    Univ of California, Davis, Section of Neurobiology, Physiology, and Behavior, One Shields Ave, Davis, California 95616, USA
    J Appl Physiol 102:740-7. 2007
    ..These results demonstrate that the effects of clenbuterol are mediated, in part, through the activation of Akt and mTOR signaling pathways...
  57. doi The involvement of the ubiquitin proteasome system in human skeletal muscle remodelling and atrophy
    A J Murton
    Centre for Integrated Systems Biology and Medicine, School of Biomedical Sciences, The University of Nottingham, Queen s Medical Centre, Nottingham, UK
    Biochim Biophys Acta 1782:730-43. 2008
    ....
  58. ncbi Control of muscle size during disuse, disease, and aging
    H Degens
    Institute for Biophysical and Clinical Research into Human Movement, Manchester Metropolitan University, Alsager Campus, Alsager, Cheshire, UK
    Int J Sports Med 27:94-9. 2006
    ....
  59. ncbi Microarray gene expression analysis in atrophying rainbow trout muscle: a unique nonmammalian muscle degradation model
    Mohamed Salem
    Division of Animal and Veterinary Sciences, West Virginia University, Morgantown, WV 26506 6108, USA
    Physiol Genomics 28:33-45. 2006
    ..For the first time, other changes/mechanisms unique to fish were discussed including genes associated with muscle atrophy...
  60. ncbi Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1
    Bertrand Leger
    Clinique romande de réadaptation, SuvaCare, Sion, Switzerland
    FASEB J 20:583-5. 2006
    ..The transcriptional regulation of human atrogin-1 may be controlled by an Akt-mediated transcription factor other than FKHR or via another signaling pathway...
  61. ncbi Isometric resistance exercise fails to counteract skeletal muscle atrophy processes during the initial stages of unloading
    F Haddad
    Dept of Physiology and Biophysics, Univ of California, Irvine, Irvine, CA 92697, USA
    J Appl Physiol (1985) 100:433-41. 2006
    ....
  62. ncbi The impact of sarcopenia and exercise training on skeletal muscle satellite cells
    Tim Snijders
    Department of Human Movement Sciences, Nutrition and Toxicology Research Institute Maastricht NUTRIM, Maastricht University Medical Centre, Maastricht, The Netherlands
    Ageing Res Rev 8:328-38. 2009
    ..This review discusses the contribution of skeletal muscle SC in the age-related loss of muscle mass and the efficacy of exercise training as a means to attenuate and/or reverse this process...
  63. ncbi Comparison of CT scan muscle measurements and isokinetic trunk strength in postoperative patients
    T G Mayer
    Division of Orthopedic Surgery, University of Texas Southwestern Medical Center, Dallas
    Spine (Phila Pa 1976) 14:33-6. 1989
    ..However, no significant difference was found in strength measures between: males with high versus low pain level and working versus nonworking males at the time of evaluation...
  64. ncbi Autophagy is required to maintain muscle mass
    Eva Masiero
    Dulbecco Telethon Institute, 35129 Padova, Italy
    Cell Metab 10:507-15. 2009
    ..Our results suggest that inhibition/alteration of autophagy can contribute to myofiber degeneration and weakness in muscle disorders characterized by accumulation of abnormal mitochondria and inclusions...
  65. ncbi Ubiquitin-protein ligases in muscle wasting
    Pei Rang Cao
    Renal Unit, DA517, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA
    Int J Biochem Cell Biol 37:2088-97. 2005
    ..The emerging challenge will be to define the protein targets for, as well as to develop inhibitors of, these E3s...
  66. pmc Early quadriceps strength loss after total knee arthroplasty. The contributions of muscle atrophy and failure of voluntary muscle activation
    Ryan L Mizner
    Department of Physical Therapy, 301 McKinly Laboratory, University of Delaware, Newark, Deleware 19716, USA
    J Bone Joint Surg Am 87:1047-53. 2005
    ..The purpose of the present investigation was to determine the role of failure of voluntary muscle activation and muscle atrophy in the early loss of quadriceps strength after surgery...
  67. doi Cardiac defects contribute to the pathology of spinal muscular atrophy models
    Monir Shababi
    Department of Veterinary Pathobiology, Bond Life Sciences Center, School of Medicine, University of Missouri, Columbia, MO 65211, USA
    Hum Mol Genet 19:4059-71. 2010
    Spinal muscular atrophy (SMA) is an autosomal recessive disorder, which is the leading genetic cause of infantile death. SMA is the most common inherited motor neuron disease and occurs in approximately 1:6000 live births...
  68. ncbi Muscle-fiber apoptosis in neuromuscular diseases
    Dominique S Tews
    Edinger Institute, Johann Wolfgang Goethe University Hospital, Deutschordenstrasse 46, D 60528 Frankfurt am Main, Germany
    Muscle Nerve 32:443-58. 2005
    ..This review focuses on the expression patterns of apoptosis-associated factors in different primary and secondary neuromuscular disorders and gives a synopsis of current knowledge...
  69. ncbi Age-related reductions in expression of serum response factor and myocardin-related transcription factor A in mouse skeletal muscles
    Kunihiro Sakuma
    Health Science Center, Toyohashi University of Technology, 1 1 Hibarigaoka, Tenpaku cho, Toyohashi 441 8580, Japan
    Biochim Biophys Acta 1782:453-61. 2008
    ..Senescent mice possessed significantly higher levels of MyoD protein in the cytosol and nucleus. Decreased SRF and MRTF expression may induce the atrophy of skeletal muscle with aging...
  70. doi Muscle RING-finger protein-1 (MuRF1) as a connector of muscle energy metabolism and protein synthesis
    Suguru Koyama
    Department of Enzymatic Regulation for Cell Functions Calpain Project, Tokyo Metropolitan Institute of Medical Science Rinshoken, Tokyo 113 8613, Japan
    J Mol Biol 376:1224-36. 2008
    ....
  71. ncbi Conditional activation of MET in differentiated skeletal muscle induces atrophy
    Tiziana Crepaldi
    Center for Experimental Research and Medical Studies, University of Turin, 10126 Turin, Italy
    J Biol Chem 282:6812-22. 2007
    ....
  72. pmc Runx1 prevents wasting, myofibrillar disorganization, and autophagy of skeletal muscle
    Xiaoxia Wang
    Molecular Neurobiology Program, Molecular Pathogenesis Program and Howard Hughes Medical Institute, Skirball Institute of Biomolecular Medicine, New York University Medical School, New York, New York 10016, USA
    Genes Dev 19:1715-22. 2005
    ..Moreover, these results suggest that reduced muscle activity could cause or contribute to congenital myopathies if Runx1 or its target genes were compromised...
  73. pmc MuRF1 is a muscle fiber-type II associated factor and together with MuRF2 regulates type-II fiber trophicity and maintenance
    Anselmo S Moriscot
    Department of Cell and Developmental Biology, Institute of Biomedical Sciences, University of Sao Paulo, Lineu Prestes Av, 1524, 05508 900 Sao Paulo, SP, Brazil
    J Struct Biol 170:344-53. 2010
    ....
  74. ncbi Myostatin antisense RNA-mediated muscle growth in normal and cancer cachexia mice
    C M Liu
    Molecular Virology Research Center, Institute of Microbiology, Chinese Academy of Sciences, Beijing, China
    Gene Ther 15:155-60. 2008
    ..Taken together, these results demonstrate the feasibility using antisense strategy for the treatment of muscle wasting conditions...
  75. ncbi Phosphodiesterase 4 inhibition reduces skeletal muscle atrophy
    Richard T Hinkle
    Research Division, Procter and Gamble Pharmaceuticals, Health Care Research Center, 8700 Mason Montgomery Road, Mason, Ohio 45040, USA
    Muscle Nerve 32:775-81. 2005
    ..These studies indicate that PDE 4 inhibitors may have a role in the treatment of skeletal muscle-wasting diseases...
  76. ncbi Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Lancet Neurol 9:875-84. 2010
    Spinal and bulbar muscular atrophy is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor...
  77. ncbi Activation of the vasoactive intestinal peptide 2 receptor modulates normal and atrophying skeletal muscle mass and force
    Richard T Hinkle
    Research Division, Procter and Gamble Pharmaceuticals, Health Care Research Center, 8700 Mason Montgomery Rd, Mason, OH 45040 9317, USA
    J Appl Physiol (1985) 98:655-62. 2005
    ..These studies indicate that VPAC2R agonists may have utility for the treatment of skeletal muscle-wasting diseases...
  78. ncbi Role of gelatinases in disuse-induced skeletal muscle atrophy
    Xuhui Liu
    San Francisco Veterans Affairs Medical Center, Department of Veterans Affairs, 4150 Clement Street 112, San Francisco, California 94121, USA
    Muscle Nerve 41:174-8. 2010
    ..These findings suggest that gelatinase A, and not gelatinase B, plays a critical role in disuse-induced skeletal muscle atrophy...
  79. ncbi Restoring Bcl-x(L) levels benefits a mouse model of spinal muscular atrophy
    Li Kai Tsai
    Department of Neurology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei 100, Taiwan
    Neurobiol Dis 31:361-7. 2008
    Currently, no curative treatment is available for spinal muscular atrophy (SMA). Since the degeneration of spinal motor neurons in SMA is mediated by apoptosis, over-expression of an anti-apoptotic factor, Bcl-x(L), may benefit SMA...
  80. pmc Gene expression during inactivity-induced muscle atrophy: effects of brief bouts of a forceful contraction countermeasure
    Soo J Kim
    Brain Research Institute, University of California Los Angeles, CA 90095 1761, USA
    J Appl Physiol (1985) 105:1246-54. 2008
    ..Although the protein anabolic pathway (IGF-1/PI3K/Akt) appears to play a minor role in regulating mass in the SI model, increased translational capacity may have contributed to mass preservation in response to isometric contractions...
  81. ncbi Matrix metalloproteinase-2 expression and promoter/enhancer activity in skeletal muscle atrophy
    Laura K Skittone
    San Francisco Veterans Affairs Medical Center, 4150 Clement Street 112, San Francisco, California 94121, USA
    J Orthop Res 26:357-63. 2008
    ..These findings show that increased MMP-2 activity in disused atrophic muscle and supporting tissues is regulated, at least in part, by increased MMP-2 promoter/enhancer activity...
  82. ncbi MRI detects early hindlimb muscle atrophy in Gly93Ala superoxide dismutase-1 (G93A SOD1) transgenic mice, an animal model of familial amyotrophic lateral sclerosis
    Keith J Brooks
    GlaxoSmithKline, The Frythe, Welwyn, Herts AL6 9AR, UK
    NMR Biomed 17:28-32. 2004
    ..Longitudinal MRI hindlimb muscle volume measurements may provide a straightforward, rapid, non-invasive and sensitive, way of monitoring outcome of experimental ALS treatments...
  83. ncbi Age-related changes in the structure and function of skeletal muscles
    John A Faulkner
    Molecular and Integrative Physiology, and Biomedical Engineering, Biomedical Science Research Building, University of Michigan, Ann Arbor, Michigan, USA
    Clin Exp Pharmacol Physiol 34:1091-6. 2007
    ....
  84. ncbi Molecular determinants of skeletal muscle mass: getting the "AKT" together
    Gustavo A Nader
    Research Center for Genetic Medicine, Children s National Medical Center, 111 Michigan Ave NW, Washington, DC 20010, USA
    Int J Biochem Cell Biol 37:1985-96. 2005
    ....
  85. ncbi Role for IkappaBalpha, but not c-Rel, in skeletal muscle atrophy
    Andrew R Judge
    Department of Health Sciences, Boston University, 635 Commonwealth Avenue, 4th Fl, Boston, MA 02215, USA
    Am J Physiol Cell Physiol 292:C372-82. 2007
    ..These data represent a significant advance in our understanding of the role of NF-kappaB/IkappaB family members in skeletal muscle atrophy, and they provide new candidate NF-kappaB target genes for further study...
  86. doi Exercise and immobilization in aging animals: the involvement of oxidative stress and NF-kappaB activation
    Marina Bar-Shai
    Department of Anatomy and Cell Biology, Technion Israel Institute of Technology, P O Box 9649, Haifa 31096, Israel
    Free Radic Biol Med 44:202-14. 2008
    ..Thus, the modulation of NF-kappaB activity in muscles of old animals by specific inhibitors may provide a means to retard muscle damage and protein degradation under conditions of immobilization...
  87. pmc Premature aging in skeletal muscle lacking serum response factor
    Charlotte Lahoute
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
    PLoS ONE 3:e3910. 2008
    ..Altogether, these results suggest that a naturally occurring SRF down-regulation precedes and contributes to the muscle aging process. Indeed, triggering SRF loss in the muscles of mutant mice results in an accelerated aging process...
  88. pmc Inhibition of atrogin-1/MAFbx mediated MyoD proteolysis prevents skeletal muscle atrophy in vivo
    Julie Lagirand-Cantaloube
    Laboratoire de Génomique Fonctionnelle et Myogenèse, UMR866 Différenciation Cellulaire et Croissance, INRA UM II, Campus INRA SupAgro, Montpellier, France
    PLoS ONE 4:e4973. 2009
    ..Our results point out MyoD as the second MAFbx skeletal muscle target by which powerful therapies could be developed...
  89. ncbi Ectopic expression of IGF-I and Shh by skeletal muscle inhibits disuse-mediated skeletal muscle atrophy and bone osteopenia in vivo
    Mohammed Borhan Alzghoul
    Basic Veterinary Sciences, School of Veterinary Medicine, Irbid Jordan
    FASEB J 18:221-3. 2004
    ..These results support the theory that skeletal muscle can regulate bone maintenance and could offer potentially novel and efficient therapeutic options for attenuating muscle and bone atrophy during aging, illness and spaceflight...
  90. ncbi Activation of the CRF 2 receptor modulates skeletal muscle mass under physiological and pathological conditions
    Richard T Hinkle
    Research Division, Procter and Gamble Pharmaceuticals, Health Care Research Center, 8700 Mason Montgomery Road, Mason, OH 45040 9317, USA
    Am J Physiol Endocrinol Metab 285:E889-98. 2003
    ..In addition, selective activation of the CRF2R increased nonatrophy skeletal muscle mass. Thus we describe for the first time a novel activity of the CRF2R, modulation of skeletal muscle mass...
  91. ncbi Mechanisms of disuse muscle atrophy: role of oxidative stress
    Scott K Powers
    Department of Applied Physiology and Kinesiology, PO Box 118225, University of Florida, Gainesville, FL 32611, USA
    Am J Physiol Regul Integr Comp Physiol 288:R337-44. 2005
    ..By discussing unresolved issues and suggesting topics for future research, it is hoped that this review will serve as a stimulus for the expansion of knowledge in this exciting field...
  92. ncbi Molecular events in skeletal muscle during disuse atrophy
    Susan C Kandarian
    Department of Health Sciences, Boston University, Massachusetts 02215, USA
    Exerc Sport Sci Rev 30:111-6. 2002
    ..Areas that are ripe for further study and that will advance our understanding of muscle atrophy are suggested...
  93. ncbi Activation of an alternative NF-kappaB pathway in skeletal muscle during disuse atrophy
    R Bridge Hunter
    Boston University, Department of Health Sciences, Boston, Massachusetts 02215, USA
    FASEB J 16:529-38. 2002
    ..The evidence presented here suggests that disuse muscle atrophy is associated with activation of an alternative NF-kappaB pathway that involves the activation of p50 but not p65...
  94. ncbi Differential gene expression profiling of short and long term denervated muscle
    Jane Batt
    Clinical Sciences Division, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    FASEB J 20:115-7. 2006
    ..Understanding of the timing and type of pathological processes that are triggered by denervation may allow the design of interventions that delay or protect muscle from loss of nerve function...
  95. pmc Calpain-1 is required for hydrogen peroxide-induced myotube atrophy
    J M McClung
    Dept of Applied Physiology and Kinesiology, Univ of Florida, Rm 25 Florida Gym, Gainesville, FL 32611, USA
    Am J Physiol Cell Physiol 296:C363-71. 2009
    ..Collectively, our data provide the first evidence for an absolute requirement for calpain-1 in the development of skeletal muscle myotube atrophy in response to oxidant-induced cellular stress...
  96. ncbi Proinflammatory cytokines and skeletal muscle
    Ulrike Späte
    The Forsyth Institute, Department of Cytokine Biology, Boston, Massachusetts, USA
    Curr Opin Clin Nutr Metab Care 7:265-9. 2004
    Metabolic abnormalities leading to a catabolic syndrome with progressive muscular atrophy are a common final stage of various chronic diseases...
  97. ncbi Atrophy responses to muscle inactivity. I. Cellular markers of protein deficits
    F Haddad
    Department of Physiology and Biophysics, University of California, Irvine, Irvine, CA 92697, USA
    J Appl Physiol 95:781-90. 2003
    ..Collectively, these data are consistent with the involvement of pretranslational and translational processes in muscle atrophy due to SI...
  98. pmc Phenotypic variability in siblings with type III spinal muscular atrophy
    M M K Muqit
    Division of Clinical Neurosciences and Psychological Medicine, Imperial College at Charing Cross Hospital, London, UK
    J Neurol Neurosurg Psychiatry 75:1762-4. 2004
    Autosomal recessive spinal muscular atrophy (SMA) shows substantial phenotypic variability, presenting at a variety of ages from infancy to adult life...
  99. pmc Muscular atrophy of caveolin-3-deficient mice is rescued by myostatin inhibition
    Yutaka Ohsawa
    Division of Neurology, Department of Internal Medicine, Kawasaki Medical School, Kurashiki, Japan
    J Clin Invest 116:2924-34. 2006
    ..However, identification of the precise molecular mechanism leading to muscular atrophy in caveolin-3-deficient muscle has remained elusive...
  100. ncbi Muscle wasting and impaired muscle regeneration in a murine model of chronic pulmonary inflammation
    Ramon C J Langen
    Department of Respiratory Medicine, Maastricht University, Maastricht, The Netherlands
    Am J Respir Cell Mol Biol 35:689-96. 2006
    ....
  101. ncbi Molecular mechanisms modulating muscle mass
    David J Glass
    Regeneron Pharmaceuticals, 777 Old Saw Mill River Road, Tarrytown, NY 10591 6707, USA
    Trends Mol Med 9:344-50. 2003
    ..The pathways modulating hypertrophy and atrophy will be further discussed, to highlight potential targets for clinical intervention...

Research Grants98

  1. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2010
    ..In this case, the neurologic disorder spinal muscular atrophy (SMA), which is caused by mutations in the survival motor neurons (SMN) gene...
  2. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2012
    ..In this case, the neurologic disorder spinal muscular atrophy (SMA), which is caused by mutations in the survival motor neurons (SMN) gene...
  3. Innate Immune Mechanisms of Motor Neuron Injury
    Timothy Vartanian; Fiscal Year: 2009
    ..such as Primary Lateral Sclerosis, pure Hereditary Spastic Paraplegia, Kennedy's disease, Spinal Muscular Atrophy, Progressive Muscular Atrophy, and amyotrophic lateral sclerosis, as well as in viral diseases such as Polio, ..
  4. Improving Air Quality for Laboratory Animal Research
    Sharron S Quisenberry; Fiscal Year: 2010
    ..significant data to increase the basic understanding of diseases such as Parkinson's disease, spinal muscular atrophy, cancer, HIV-1 and food borne illnesses...
  5. Retrograde Motility of Mitochondria
    MICHELLE AUDREY CRONIN; Fiscal Year: 2010
    ..Several neurodegenerative diseases, such as Amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SBMA), and Huntington's disease have been linked to defects in retrograde movement of organelles, ..
  6. Spinal muscular atrophy: a novel role of SMN in axonal ribonucleoprotein complexe
    Wilfried Rossoll; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) represents the most common genetic cause of infant mortality...
  7. Mechanistic Basis Underlying Protein Repair of CFTR Nonsense Mutations
    STEVEN MARK ROWE; Fiscal Year: 2010
    ..and other genetic diseases including Duchenne's muscular dystrophy, Hurler's syndrome, and spinal muscular atrophy. While initial studies with gentamicin, amikacin, and the novel small molecule PTC124 indicate significant ..
  8. Mechanistic Basis Underlying Protein Repair of CFTR Nonsense Mutations
    Steven Rowe; Fiscal Year: 2009
    ..and other genetic diseases including Duchenne's muscular dystrophy, Hurler's syndrome, and spinal muscular atrophy. While initial studies with gentamicin, amikacin, and the novel small molecule PTC124 indicate significant ..
  9. High-affinity RNA targets of Survival Motor Neuron Protein
    Ravindra N Singh; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is a developmental disorder characterized by a progressive loss of motor neurons during early childhood...
  10. Comprehensive mutation detection for Neuromuscular disorders: Bringing new techno
    Madhuri Hegde; Fiscal Year: 2009
    ..Muscular Dystrophies (LGMD), Congenital Muscular Dystrophies (CMD), Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA) and Charcot-Marie-Tooth disease (CMT)...
  11. Comprehensive mutation detection for Neuromuscular disorders: Bringing new techno
    Madhuri R Hegde; Fiscal Year: 2010
    ..Muscular Dystrophies (LGMD), Congenital Muscular Dystrophies (CMD), Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA) and Charcot-Marie-Tooth disease (CMT)...
  12. Spinal Muscular Atrophy: Is it a motor axon disease?
    Christine E Beattie; Fiscal Year: 2010
    ..Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes motoneuron dysfunction leading to paralysis and in severe ..
  13. A Spontaneous Mouse Model of Motor Neuron Disease
    Kevin L Seburn; Fiscal Year: 2010
    ..cause a motor neuron disease in mice that directly led to the identification of the genetic basis of Spinal Muscular Atrophy with Respiratory Distress in humans...
  14. SMN Control of snRNP Biogenesis: Role in RNA Splicing and Motor Neuron Survival
    Livio Pellizzoni; Fiscal Year: 2010
    ..Reduced SMN levels cause spinal muscular atrophy (SMA)-a common inherited neuromuscular disorder characterized by motor neuron degeneration...
  15. Animal models to examine role of ZPR1 protein complexes
    LAXMAN DASS GANGWANI; Fiscal Year: 2010
    ..cause of diverse human genetic diseases ranging from cancer to neurodegenerative disorders, including spinal muscular atrophy (SMA)...
  16. Noncoding RNA targets of the spinal muscular atrophy protein
    Livio Pellizzoni; Fiscal Year: 2009
    ..PUBLIC HEALTH RELEVANCE: Spinal muscular atrophy (SMA) is a devastating motor neuron disease caused by decreased levels of the SMN protein...
  17. Spinal Muscular Atrophy: Cell-based drug screens for treatment of axonal defects
    Wilfried Rossoll; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality...
  18. Noncoding RNA targets of the spinal muscular atrophy protein
    Livio Pellizzoni; Fiscal Year: 2010
    ..PUBLIC HEALTH RELEVANCE: Spinal muscular atrophy (SMA) is a devastating motor neuron disease caused by decreased levels of the SMN protein...
  19. Animal models to examine role of ZPR1 protein complexes
    Laxman Gangwani; Fiscal Year: 2009
    ..cause of diverse human genetic diseases ranging from cancer to neurodegenerative disorders, including spinal muscular atrophy (SMA)...
  20. Regulation of Mammalian mRNA Decapping
    Megerditch Kiledjian; Fiscal Year: 2009
    ..to its role in mRNA turnover as well as the target substrate of a drug candidate for the treatment of spinal muscular atrophy. In this proposal, i) we will test the impact of Dcp2 and its absence on mRNA decay and identify the non-Dcp2 ..
  21. Regulation of Mammalian mRNA Decapping
    Megerditch Kiledjian; Fiscal Year: 2010
    ..to its role in mRNA turnover as well as the target substrate of a drug candidate for the treatment of spinal muscular atrophy. In this proposal, i) we will test the impact of Dcp2 and its absence on mRNA decay and identify the non-Dcp2 ..
  22. A device for rapid, painless, bedside muscle evaluation of children
    JOSE LUIS BOHORQUEZ; Fiscal Year: 2012
    ..Pediatric neuromuscular disorders include muscular dystrophies, spinal muscular atrophy, and inflammatory myositis, and affect well over 100,000 children in the United States alone...
  23. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2005
    DESCRIPTION (provided by the applicant): Spinal muscular atrophy (SMA) is a genetic disease, frequency 8 per 100,000 live births, with a high mortality during infancy and no known treatment...
  24. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2004
    DESCRIPTION (provided by the applicant): Spinal muscular atrophy (SMA) is a genetic disease, frequency 8 per 100,000 live births, with a high mortality during infancy and no known treatment...
  25. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2003
    DESCRIPTION (provided by the applicant): Spinal muscular atrophy (SMA) is a genetic disease, frequency 8 per 100,000 live births, with a high mortality during infancy and no known treatment...
  26. Biogenesis of Small Ribonucleoproteins
    A Gregory Matera; Fiscal Year: 2010
    ..Defects in the assembly of Sm-class small RNPs are associated with a disorder called Spinal Muscular Atrophy (SMA). Patients with SMA typically die in early childhood...
  27. Creation of hypomorphic panel of Smn mice that mimic human SMN2 splicing
    CHRISTINE DIDONATO; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): Proximal spinal muscular atrophy (SMA), the leading monogenic cause of infant mortality, is caused by the loss of the survival motor neuron gene (SMN1)...
  28. Biogenesis of Small Ribonucleoproteins
    A Gregory Matera; Fiscal Year: 2007
    ..Defects in the assembly of Sm-class small RNPs are associated with a disorder called Spinal Muscular Atrophy (SMA). Patients with SMA typically die in early childhood...
  29. Biogenesis of Small Ribonucleoproteins
    A Gregory Matera; Fiscal Year: 2007
    ..Defects in the assembly of Sm-class small RNPs are associated with a disorder called Spinal Muscular Atrophy (SMA). Patients with SMA typically die in early childhood...
  30. Biogenesis of Small Ribonucleoproteins
    A Gregory Matera; Fiscal Year: 2009
    ..Defects in the assembly of Sm-class small RNPs are associated with a disorder called Spinal Muscular Atrophy (SMA). Patients with SMA typically die in early childhood...
  31. Biogenesis of Small Ribonucleoproteins
    A Gregory Matera; Fiscal Year: 2009
    ..Defects in the assembly of Sm-class small RNPs are associated with a disorder called Spinal Muscular Atrophy (SMA). Patients with SMA typically die in early childhood...
  32. Nemo-Like Kinase and the Pathogenesis of Spinal and Bulbar Muscular Atrophy
    TIFFANY WERLYNE TODD; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Spinal and Bulbar Muscular Atrophy (SBMA, Kennedy's Disease) is an X-linked progressive neurodegenerative disease affecting the proximal spinal and bulbar motoneurons...
  33. Motoneuron-selective Rescue of SMA Model Mice
    Mendell Rimer; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Lower motoneuron death is believed to be the primary defect in spinal muscular atrophy (SMA), a childhood hereditary neuromuscular disease almost as prevalent as cystic fibrosis, perhaps the best-..
  34. Regulation of Sensory-Motor Connectivity by Semaphorin-Plexin Signaling
    Yutaka Yoshida; Fiscal Year: 2009
    ..cord occurs in a number of neurological disorders such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA)...
  35. Investigation of Gemin5 in Coordinated mRNA Regulation
    DANIEL BATTLE; Fiscal Year: 2011
    ..Gemin5 binds to snRNAs and delivers then to SMN for snRNP assembly. Mutations in SMN cause Spinal Muscular Atrophy (SMA), a common and often fatal neurodegenerative disease characterized by motor-neuron degeneration and ..
  36. Spinal Muscular Atrophy: inducing SMN expression
    CHRISTINE DIDONATO; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Spinal Muscular Atrophy (SMA), a common autosomal recessive motor neuron disorder that is the leading genetic cause of infant mortality...
  37. Spinal Muscular Atrophy: inducing SMN expression
    CHRISTINE DIDONATO; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Spinal Muscular Atrophy (SMA), a common autosomal recessive motor neuron disorder that is the leading genetic cause of infant mortality...
  38. Spinal Muscular Atrophy: inducing SMN expression
    CHRISTINE DIDONATO; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Spinal Muscular Atrophy (SMA), a common autosomal recessive motor neuron disorder that is the leading genetic cause of infant mortality...
  39. Spinal Muscular Atrophy: inducing SMN expression
    CHRISTINE DIDONATO; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Spinal Muscular Atrophy (SMA), a common autosomal recessive motor neuron disorder that is the leading genetic cause of infant mortality...
  40. Spinal Muscular Atrophy: inducing SMN expression
    CHRISTINE DIDONATO; Fiscal Year: 2007
    Spinal Muscular Atrophy (SMA), a common autosomal recessive motor neuron disorder that is the leading genetic cause of infant mortality. SMA is caused by the loss of the survival motor neuron gene (SMN1)...
  41. Targeting SMN2 Alternative Splicing for the Treatment of Spinal Muscular Atrophy
    Michelle L Hastings; Fiscal Year: 2010
    ..One disease that can potentially be cured by targeting pre- mRNA splicing is spinal muscular atrophy (SMA). SMA is a pediatric neurodegenerative disease for which there is currently no cure or effective therapy...
  42. Genetic and Biochemical Analyses of Germline Development in Drosophila
    Alexey Arkov; Fiscal Year: 2009
    ..In particular, mutations in Tudor domain of human SMN protein cause spinal muscular atrophy which is a leading genetic cause of early childhood mortality. The following specific aims are proposed: I...
  43. A zebrafish model for neural regeneration
    ALLISON F ROSENBERG; Fiscal Year: 2010
    ..pathologies of the peripheral and central nervous systems, such as Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy. The importance of axon degeneration is highlighted by how its speed and efficiency determine the success of ..
  44. Nuclear bodies and ribonucleoprotein biogenesis
    MICHAEL HEBERT; Fiscal Year: 2009
    ..of Motor Neuron (SMN) protein, which is mutated in most patients with the neurodegenerative disorder Spinal Muscular Atrophy. No function for Gems has been described, but current evidence implicates the CB as the site for maturation ..
  45. Testing Compounds that Increase SMN levels for Efficacy in Mouse Models of SMA
    Elliot Androphy; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is an autosomal recessive form of muscular dystrophy that afflicts approximately 1 in 6,000 live births and clinically manifests as progressive muscle weakness due to ..
  46. Large Animal Model of Spinal Muscular Atrophy
    MONIQUE LORSON; Fiscal Year: 2009
    ..by applicant): Project summary/abstract: This application proposes the generation of a swine model of Spinal Muscular Atrophy (SMA) (pSMN1-/-;hSMN2) using somatic cell nuclear transfer of gene targeted fetal fibroblasts and breeding...
  47. GENETIC CONTROL OF NEUROMUSCULAR DEGENERATION IN MICE
    Gregory Cox; Fiscal Year: 2002
    Degenerative motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are devastating disorders that encompass both wide ranges of clinical severity and ages of onset...
  48. GENETIC CONTROL OF NEUROMUSCULAR DEGENERATION IN MICE
    Gregory Cox; Fiscal Year: 1999
    Degenerative motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are devastating disorders that encompass both wide ranges of clinical severity and ages of onset...
  49. GENETIC CONTROL OF NEUROMUSCULAR DEGENERATION IN MICE
    Gregory Cox; Fiscal Year: 2000
    Degenerative motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are devastating disorders that encompass both wide ranges of clinical severity and ages of onset...
  50. GENETIC CONTROL OF NEUROMUSCULAR DEGENERATION IN MICE
    Gregory Cox; Fiscal Year: 2001
    Degenerative motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are devastating disorders that encompass both wide ranges of clinical severity and ages of onset...
  51. Spinal Muscular Atrophy: Is it a motor axon disease?
    CHRISTINE BEATTIE; Fiscal Year: 2006
    Spinal muscular atrophy (SMA) is an autosomal recessive disease and one of the leading causes of infant mortality. To elucidate the biological mechanism underlying this motoneuron disease, SMA has been modeled in mice and zebrafish...
  52. Spinal Muscular Atrophy: Is it a motor axon disease?
    CHRISTINE BEATTIE; Fiscal Year: 2009
    Spinal muscular atrophy (SMA) is an autosomal recessive disease and one of the leading causes of infant mortality. To elucidate the biological mechanism underlying this motoneuron disease, SMA has been modeled in mice and zebrafish...
  53. Spinal Muscular Atrophy: Is it a motor axon disease?
    CHRISTINE BEATTIE; Fiscal Year: 2009
    Spinal muscular atrophy (SMA) is an autosomal recessive disease and one of the leading causes of infant mortality. To elucidate the biological mechanism underlying this motoneuron disease, SMA has been modeled in mice and zebrafish...
  54. The Electrophysiology of Motor Neuron Diseases
    Mark Bromberg; Fiscal Year: 2002
    Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are neurodegenerative disorders of unknown etiology. They have in common death of lower motor neurons (LMN) causing muscle weakness, and both disorders are fatal...
  55. Cooperative lead development program for treatment of spinal muscular atrophy
    Elliot J Androphy; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Spinal Muscular Atrophy (SMA) is a common form of muscular dystrophy and the leading genetic cause of infant mortality...
  56. The Electrophysiology of Motor Neuron Diseases
    Mark Bromberg; Fiscal Year: 2001
    Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are neurodegenerative disorders of unknown etiology. They have in common death of lower motor neurons (LMN) causing muscle weakness, and both disorders are fatal...
  57. Novel Gene Delivery Development for Spinal Muscular Atrophy
    Brian Kaspar; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is a genetic disorder characterized by the loss of lower motor neurons (LMNs) residing along the entire length of the spinal cord...
  58. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2000
    Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease of the anterior horn cell of the spinal cord; this disease is attributable to mutations in the 5q11 site which includes the SMN (survival motor neuron), the neuronal ..
  59. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2001
    Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease of the anterior horn cell of the spinal cord; this disease is attributable to mutations in the 5q11 site which includes the SMN (survival motor neuron), the neuronal ..
  60. CLINICAL TRIALS FOR PEDIATRIC SPINAL MUSCULAR ATROPHY
    Susan Iannaccone; Fiscal Year: 2002
    Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease of the anterior horn cell of the spinal cord; this disease is attributable to mutations in the 5q11 site which includes the SMN (survival motor neuron), the neuronal ..
  61. ATM AND CELL DEATH IN THE NERVOUS SYSTEM
    PETER MCKINNON; Fiscal Year: 2003
    ..of the nervous system leading to debilitating effects such as ataxia, memory deficits, epilepsy and muscular atrophy. In many cases, these syndromes underscore the important role of certain molecules responsible for the ..
  62. ATM AND CELL DEATH IN THE NERVOUS SYSTEM
    PETER MCKINNON; Fiscal Year: 2002
    ..of the nervous system leading to debilitating effects such as ataxia, memory deficits, epilepsy and muscular atrophy. In many cases, these syndromes underscore the important role of certain molecules responsible for the ..
  63. ATM AND CELL DEATH IN THE NERVOUS SYSTEM
    PETER MCKINNON; Fiscal Year: 2005
    ..of the nervous system leading to debilitating effects such as ataxia, memory deficits, epilepsy and muscular atrophy. In many cases, these syndromes underscore the important role of certain molecules responsible for the ..
  64. ATM AND CELL DEATH IN THE NERVOUS SYSTEM
    PETER MCKINNON; Fiscal Year: 2006
    ..of the nervous system leading to debilitating effects such as ataxia, memory deficits, epilepsy and muscular atrophy. In many cases, these syndromes underscore the important role of certain molecules responsible for the ..
  65. REGULATION OF CELL DEATH IN DROSOPHILA
    Bruce Hay; Fiscal Year: 2000
    ..in the human Neural Apoptosis Inhibitory Protein gene, an IP homologous gene are associated with spinal muscular atrophy, a common human neurological degenerative disease...
  66. ATM AND CELL DEATH IN THE NERVOUS SYSTEM
    PETER MCKINNON; Fiscal Year: 2004
    ..of the nervous system leading to debilitating effects such as ataxia, memory deficits, epilepsy and muscular atrophy. In many cases, these syndromes underscore the important role of certain molecules responsible for the ..
  67. Assembly of the AI5-beta Group I Intron RNP
    Edward Turk; Fiscal Year: 2007
    ..Defects in RNP biogenesis are responsible for retinitis pigmentosa and spinal muscular atrophy, both of which are human diseases characterized by tissue-specific degeneration of cells...
  68. REGULATION OF CELL DEATH IN DROSOPHILA
    Bruce Hay; Fiscal Year: 2002
    ..in the human Neural Apoptosis Inhibitory Protein gene, an IP homologous gene are associated with spinal muscular atrophy, a common human neurological degenerative disease...
  69. Function of the Zinc Finger Protein ZPR1 in neurodegeneration
    LAXMAN DASS GANGWANI; Fiscal Year: 2010
    ..research is to understand the physiological role of zinc finger protein ZPR1 in the pathogenesis of spinal muscular atrophy (SMA) caused by mutation of the survival motor neurons (SMN1) gene...
  70. The role of Usp 14 in regulating neuronal function
    SCOTT MICHAEL WILSON; Fiscal Year: 2012
    ..in the neuromuscular junction (NMJ) have recently been reported in motor neuron diseases such as Spinal muscular atrophy (SMA);however, little is known about the pathways that regulate synaptic activity and development in motor ..
  71. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard L Maria; Fiscal Year: 2010
    ..as symposia topics for 2006 to 2010 - injury to the preterm brain andcerebral palsy, brain tumors, spinal muscular atrophy, muscular dystrophy and myopathy, and cerebrovascular disease - are significant to the child neurology ..
  72. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2009
    ..as symposia topics for 2006 to 2010 - injury to the preterm brain andcerebral palsy, brain tumors, spinal muscular atrophy, muscular dystrophy and myopathy, and cerebrovascular disease - are significant to the child neurology ..
  73. microRNA biogenesis and function in spinal muscular atrophy
    Zissimos Mourelatos; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is a common motor neuron disease and one of the leading genetic causes of death of young children...
  74. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2009
    ..as symposia topics for 2006 to 2010 - injury to the preterm brain andcerebral palsy, brain tumors, spinal muscular atrophy, muscular dystrophy and myopathy, and cerebrovascular disease - are significant to the child neurology ..
  75. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2007
    ..as symposia topics for 2006 to 2010-injury to the preterm brain and cerebral palsy, brain tumors, spinal muscular atrophy, muscular dystrophy and myopathy, and cerebrovascular disease-are significant to the child neurology ..
  76. The role of Usp 14 in regulating neuronal function
    SCOTT MICHAEL WILSON; Fiscal Year: 2010
    ..in the neuromuscular junction (NMJ) have recently been reported in motor neuron diseases such as Spinal muscular atrophy (SMA);however, little is known about the pathways that regulate synaptic activity and development in motor ..
  77. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2006
    ..as symposia topics for 2006 to 2010-injury to the preterm brain and cerebral palsy, brain tumors, spinal muscular atrophy, muscular dystrophy and myopathy, and cerebrovascular disease-are significant to the child neurology ..
  78. GOLGI APPARATUS IN AMYOTROPHIC LATERAL SCLEROSIS
    NICHOLAS GONATAS; Fiscal Year: 1999
    ..overexpressing the human heavy neurofilament subunit, and in the wobbler mouse, a model of infantile spinal muscular atrophy (reviewer 1)...
  79. GOLGI APPARATUS IN AMYOTROPHIC LATERAL SCLEROSIS
    NICHOLAS GONATAS; Fiscal Year: 2000
    ..overexpressing the human heavy neurofilament subunit, and in the wobbler mouse, a model of infantile spinal muscular atrophy (reviewer 1)...
  80. GOLGI APPARATUS IN AMYOTROPHIC LATERAL SCLEROSIS
    NICHOLAS GONATAS; Fiscal Year: 2001
    ..overexpressing the human heavy neurofilament subunit, and in the wobbler mouse, a model of infantile spinal muscular atrophy (reviewer 1)...
  81. GOLGI APPARATUS IN AMYOTROPHIC LATERAL SCLEROSIS
    NICHOLAS GONATAS; Fiscal Year: 2001
    ..overexpressing the human heavy neurofilament subunit, and in the wobbler mouse, a model of infantile spinal muscular atrophy (reviewer 1)...
  82. INVESTIGATION OF THE ROLE OF SMN IN NEURONAL APOPTOSIS
    Douglas Kerr; Fiscal Year: 2003
    Patients with the motor neuron disease Spinal Muscular Atrophy (SMA) have mutations in the SMN1 (survival motor neuron) gene...
  83. Mechanisms of degeneration in the spinal cord and musculoskeletal system in SMA
    SANIYA FAYZULLINA; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is a fatal genetic disease. It is caused by mutations in the Survival of Motor Neuron (SMN) gene and is the second most common genetic cause of childhood mortality [6]...
  84. Therapeutic Opportunities in Spinal Muscular Atrophy
    Kathryn Swoboda; Fiscal Year: 2007
    Spinal muscular atrophy is the most common inherited motor neuron disease in humans, with an incidence of one in 8,000 live births. It is a leading cause of hereditary infant and childhood mortality...
  85. Therapeutic Opportunities in Spinal Muscular Atrophy
    Kathryn Swoboda; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Spinal muscular atrophy is the most common inherited motor neuron disease in humans, with an incidence of one in 8,000 live births. It is a leading cause of hereditary infant and childhood mortality...
  86. How low levels of SMN causes Spinal Muscular Atrophy
    Arthur Burghes; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is characterized by loss of motor neurons and atrophy of muscle. Proximal SMA is the second most common genetic cause of infant death...
  87. Axonal Transport in a Myogenic Model of Spinal Bulbar Muscular Atrophy (SBMA)
    Michael Kemp; Fiscal Year: 2009
    ..the extent to which retrograde transport and/or endocytosis are involved in a myogenic model of Spinal Bulbar Muscular Atrophy (SBMA)...
  88. The Mouse SNM Gene: Potential Role in Modeling Spinal Muscular Atrophy
    JORDAN GLADMAN; Fiscal Year: 2007
    Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuro-degenerative disease that is the primary genetic cause of infant mortality in the United States...
  89. The Mouse SNM Gene: Potential Role in Modeling Spinal Muscular Atrophy
    JORDAN GLADMAN; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuro-degenerative disease that is the primary genetic cause of infant mortality in the United States...
  90. How low levels of SMN causes Spinal Muscular Atrophy
    Arthur H M Burghes; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is characterized by loss of motor neurons and atrophy of muscle. Proximal SMA is the second most common genetic cause of infant death...
  91. Therapeutic Opportunities in Spinal Muscular Atrophy
    Kathryn J Swoboda; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Spinal muscular atrophy is the most common inherited motor neuron disease in humans, with an incidence of one in 8,000 live births. It is a leading cause of hereditary infant and childhood mortality...
  92. Muscle and neuromuscular junctions in spinal muscular atrophy
    CHARLOTTE SUMNER; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is a currently untreatable, autosomal recessive motor neuron disease that is the leading inherited cause of infant mortality...
  93. Muscle and neuromuscular junctions in spinal muscular atrophy
    CHARLOTTE JANE SUMNER; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA) is a currently untreatable, autosomal recessive motor neuron disease that is the leading inherited cause of infant mortality...
  94. Tetracycline derivatives as SMN2 mRNA splicing modifiers for treatment of SMA.
    Paul Higgins; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Project Summary. Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder characterized by progressive deterioration of motor neurons in the CMS. There is no treatment or cure for this disease...
  95. Electrophysiological phenotypes in a Drosophila model of SMA
    Subhabrata Sanyal; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Spinal muscular atrophy (SMA), one of the most widespread childhood genetic disorders in humans, is due to the loss of the telomeric SMN1 gene and partial rescue by the centromeric homolog SMN2 which ..
  96. Therapeutic Opportunities in Spinal Muscular Atrophy
    Kathryn J Swoboda; Fiscal Year: 2010
    Spinal muscular atrophy is the most common inherited motor neuron disease in humans, with an incidence of 1 in 8,000 live births. It is a leading cause of hereditary infant and childhood mortality...
  97. Neuronal RNA processing defects in ALS4 caused by SETX mutations
    Craig L Bennett; Fiscal Year: 2010
    ..it turns out, altered RNA processing in neurodegeneration is well established including loss of SMN in spinal muscular atrophy (SMA) and loss of FMRP in fragile-X mental retardation...
  98. Tetracycline derivatives as SMN2 mRNA splicing modifiers for treatment of SMA.
    Paul Higgins; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Project Summary. Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder characterized by progressive deterioration of motor neurons in the CMS. There is no treatment or cure for this disease...