Dmd

Summary

Gene Symbol: Dmd
Description: dystrophin, muscular dystrophy
Alias: DXSmh7, DXSmh9, Dp427, Dp71, dys, mdx, pke, dystrophin, X-linked muscular dystrophy, dystrophin Dp71 delta110 isoform, dystrophin Dp71c isoform, dystrophin Dp71d delta71,74 isoform, dystrophin Dp71d delta74 isoform, dystrophin Dp71d(delta71,73-74), dystrophin Dp71f delta74 isoform
Species: mouse

Top Publications

  1. pmc Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice
    Elisabeth R Barton
    Department of Physiology, University of Pennsylvania, Philadelphia, PA 19104, USA
    J Cell Biol 157:137-48. 2002
  2. ncbi Loss of dystrophin causes aberrant mechanotransduction in skeletal muscle fibers
    Ashok Kumar
    Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    FASEB J 18:102-13. 2004
  3. ncbi Dystrophin-deficient mdx mice display a reduced life span and are susceptible to spontaneous rhabdomyosarcoma
    Jeffrey S Chamberlain
    Department of Neurology, K243b HSB, Box 357720, 1959 N E Pacific St, University of Washington School of Medicine, Seattle, WA 98195 7720, USA
    FASEB J 21:2195-204. 2007
  4. doi Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy
    Pietro Spitali
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Lab Invest 90:1396-402. 2010
  5. ncbi MyoD is required for myogenic stem cell function in adult skeletal muscle
    L A Megeney
    Institute for Molecular Biology and Biotechnology, Cancer Research Group, McMaster University, Hamilton, Ontario, Canada
    Genes Dev 10:1173-83. 1996
  6. ncbi The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy
    H H Stedman
    School of Medicine, University of Pennsylvania, Philadelphia 19104
    Nature 352:536-9. 1991
  7. pmc Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan
    Günther A Rezniczek
    Max F Perutz Laboratories, Department of Molecular Cell Biology, University of Vienna, A 1030 Vienna, Austria
    J Cell Biol 176:965-77. 2007
  8. pmc Shifts in macrophage phenotypes and macrophage competition for arginine metabolism affect the severity of muscle pathology in muscular dystrophy
    S Armando Villalta
    Molecular, Cellular and Integrative Physiology Program, David Geffen School of Medicine at UCLA, University of California, Los Angeles, CA 90095 1606, USA
    Hum Mol Genet 18:482-96. 2009
  9. pmc PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy
    Christoph Handschin
    Dana Farber Cancer Institute and Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genes Dev 21:770-83. 2007
  10. pmc Fibrinogen drives dystrophic muscle fibrosis via a TGFbeta/alternative macrophage activation pathway
    Berta Vidal
    Program on Differentiation and Cancer, Center for Genomic Regulation CRG, Pompeu Fabra University UPF, E 08003 Barcelona, Spain
    Genes Dev 22:1747-52. 2008

Research Grants

  1. Novel hybrid AAV vectors for cystic fibrosis gene therapy
    Dongsheng Duan; Fiscal Year: 2008
  2. Cardiac Contraction-Relaxation Coupling
    PAULUS JANSSEN; Fiscal Year: 2008
  3. FASEB Summer Conference on: The Biology of Calpains in Health and Disease
    Melissa Spencer; Fiscal Year: 2007
  4. Study of Intrinsic Bladder Activity by Optical Imaging
    Anthony Kanai; Fiscal Year: 2007
  5. THERAPEUTIC APPROACHES FOR MUSCULAR DYSTROPHY
    Melissa Spencer; Fiscal Year: 2006
  6. Use of Albuterol in Spinal Cord Injury
    Richard Zeman; Fiscal Year: 2002
  7. Pathogenesis of autoimmune myositis: Role of MHC Class 1
    Kanneboyina Nagaraju; Fiscal Year: 2009
  8. Epsilon-sarcoglycan in LGMD Type 2D
    Kevin Campbell; Fiscal Year: 2009
  9. Apoptosis in Laminin alpha2-Deficient Muscle Pathology
    JANICE DOMINOV; Fiscal Year: 2009
  10. Notch Signaling and Satellite Cell Activation
    THOMAS RANDO; Fiscal Year: 2009

Detail Information

Publications204 found, 100 shown here

  1. pmc Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice
    Elisabeth R Barton
    Department of Physiology, University of Pennsylvania, Philadelphia, PA 19104, USA
    J Cell Biol 157:137-48. 2002
    Duchenne muscular dystrophy is an X-linked degenerative disorder of muscle caused by the absence of the protein dystrophin. A major consequence of muscular dystrophy is that the normal regenerative capacity of skeletal muscle cannot ..
  2. ncbi Loss of dystrophin causes aberrant mechanotransduction in skeletal muscle fibers
    Ashok Kumar
    Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    FASEB J 18:102-13. 2004
    b>Dystrophin is a cytoskeletal protein found at the inner surface of skeletal and cardiac muscle fibers. We hypothesize that deficiency of dystrophin increases muscle compliance and causes an aberrant mechanotransduction in muscle fibers...
  3. ncbi Dystrophin-deficient mdx mice display a reduced life span and are susceptible to spontaneous rhabdomyosarcoma
    Jeffrey S Chamberlain
    Department of Neurology, K243b HSB, Box 357720, 1959 N E Pacific St, University of Washington School of Medicine, Seattle, WA 98195 7720, USA
    FASEB J 21:2195-204. 2007
    ..dystrophy exist, but the most effective model for characterizing the structural and functional properties of dystrophin and therapeutic interventions has been the mdx mouse...
  4. doi Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy
    Pietro Spitali
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Lab Invest 90:1396-402. 2010
    ..Digital array results show that 1 ng of mdx gastrocnemius muscle-derived mRNA contains approximately 1100 dystrophin transcripts and that 665 transcripts are sufficient to determine exon-skipping levels...
  5. ncbi MyoD is required for myogenic stem cell function in adult skeletal muscle
    L A Megeney
    Institute for Molecular Biology and Biotechnology, Cancer Research Group, McMaster University, Hamilton, Ontario, Canada
    Genes Dev 10:1173-83. 1996
    ..Mice lacking both MyoD and dystrophin displayed a marked increase in severity of myopathy leading to premature death, suggesting a role for MyoD in ..
  6. ncbi The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy
    H H Stedman
    School of Medicine, University of Pennsylvania, Philadelphia 19104
    Nature 352:536-9. 1991
    ..and Duchenne muscular dystrophy (DMD) are genetically homologous and both characterized by a complete absence of dystrophin, the limb muscles of adult mdx mice suffer neither the detectable weakness nor the progressive degeneration that ..
  7. pmc Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan
    Günther A Rezniczek
    Max F Perutz Laboratories, Department of Molecular Cell Biology, University of Vienna, A 1030 Vienna, Austria
    J Cell Biol 176:965-77. 2007
    ..and in vitro binding assays using recombinant protein fragments revealed the direct binding of plectin to dystrophin (utrophin) and beta-dystroglycan, the key components of the dystrophin-glycoprotein complex...
  8. pmc Shifts in macrophage phenotypes and macrophage competition for arginine metabolism affect the severity of muscle pathology in muscular dystrophy
    S Armando Villalta
    Molecular, Cellular and Integrative Physiology Program, David Geffen School of Medicine at UCLA, University of California, Los Angeles, CA 90095 1606, USA
    Hum Mol Genet 18:482-96. 2009
    Duchenne muscular dystrophy (DMD) is the most common, lethal, muscle-wasting disease of childhood...
  9. pmc PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy
    Christoph Handschin
    Dana Farber Cancer Institute and Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genes Dev 21:770-83. 2007
    ..Since a subset of genes controlled by PGC-1alpha and GABP is dysregulated in Duchenne muscular dystrophy (DMD), we examined the effects of transgenic PGC-1alpha in muscle of mdx mice...
  10. pmc Fibrinogen drives dystrophic muscle fibrosis via a TGFbeta/alternative macrophage activation pathway
    Berta Vidal
    Program on Differentiation and Cancer, Center for Genomic Regulation CRG, Pompeu Fabra University UPF, E 08003 Barcelona, Spain
    Genes Dev 22:1747-52. 2008
    ..Here, we show that fibrinogen accumulates in dystrophic muscles of DMD patients and mdx mice...
  11. doi An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan
    Gai Ayalon
    Howard Hughes Medical Institute and Departments of Cell Biology, Biochemistry, and Neurobiology, Duke University Medical Center, Durham, NC 27710, USA
    Cell 135:1189-200. 2008
    beta-dystroglycan (DG) and the dystrophin-glycoprotein complex (DGC) are localized at costameres and neuromuscular junctions in the sarcolemma of skeletal muscle...
  12. ncbi Contraction-induced injury to single permeabilized muscle fibers from mdx, transgenic mdx, and control mice
    G S Lynch
    Institute of Gerontology, University of Michigan, Ann Arbor, Michigan 48109 2007, USA
    Am J Physiol Cell Physiol 279:C1290-4. 2000
    Muscle fibers of mdx mice that lack dystrophin are more susceptible to contraction-induced injury, particularly when stretched...
  13. pmc Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice
    Holly H Nguyen
    Department of Neuroscience, Glycobiology Research and Training Center, University of California at San Diego School of Medicine, La Jolla, CA 92093 0691, USA
    Proc Natl Acad Sci U S A 99:5616-21. 2002
    Duchenne muscular dystrophy (DMD) is a congenital X-linked myopathy caused by lack of dystrophin protein expression...
  14. pmc X chromosome-linked muscular dystrophy (mdx) in the mouse
    G Bulfield
    Proc Natl Acad Sci U S A 81:1189-92. 1984
    An X chromosome-linked mouse mutant (gene symbol, mdx) has been found that has elevated plasma levels of muscle creatine kinase and pyruvate kinase and exhibits histological lesions characteristic of muscular dystrophy...
  15. ncbi Leukemia inhibitory factor and interleukin-6 are produced by diseased and regenerating skeletal muscle
    J B Kurek
    Melbourne Neuromuscular Research Centre, St Vincent s Hospital, Fitzroy, Victoria, Australia
    Muscle Nerve 19:1291-301. 1996
    ..Using in situ hybridization we have localized mRNA for LIF expression in the mdx diaphragm, suggesting that local production of these molecules by regenerating muscle itself, as well as by other ..
  16. pmc A role for nitric oxide in muscle repair: nitric oxide-mediated activation of muscle satellite cells
    J E Anderson
    Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada R3E 0W3
    Mol Biol Cell 11:1859-74. 2000
    ..NOS-inhibited release of normal cells, in agreement with reports of displaced and reduced NOS expression in dystrophin-deficient mdx muscle and the complete loss of NOS-I expression in knockout mice...
  17. ncbi Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities
    F Galbiati
    Department of Molecular Pharmacology, Albert Einstein Comprehensive Cancer Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Biol Chem 276:21425-33. 2001
    ..muscle tissue from these caveolin-3 null mice reveals: (i) mild myopathic changes; (ii) an exclusion of the dystrophin-glycoprotein complex from lipid raft domains; and (iii) abnormalities in the organization of the T-tubule system,..
  18. pmc uPA deficiency exacerbates muscular dystrophy in MDX mice
    Monica Suelves
    Program on Differentiation and Cancer, Center for Genomic Regulation, E 08003, Barcelona, Spain
    J Cell Biol 178:1039-51. 2007
    ..We identify a function of the protease urokinase plasminogen activator (uPA) in mdx mice, a mouse model of DMD...
  19. pmc Sildenafil reverses cardiac dysfunction in the mdx mouse model of Duchenne muscular dystrophy
    Candace M Adamo
    Departments of Pharmacology, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 107:19079-83. 2010
    ..Patients with DMD lack expression of the protein dystrophin as a result of mutations in the X-linked dystrophin gene...
  20. ncbi Decreased myocardial nNOS, increased iNOS and abnormal ECGs in mouse models of Duchenne muscular dystrophy
    B L Bia
    Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK
    J Mol Cell Cardiol 31:1857-62. 1999
    Duchenne muscular dystrophy is a devastating neuromuscular disease caused by lack of the protein, dystrophin, in skeletal muscle and heart, although the biochemical mechanism by which dystrophin loss causes muscle dysfunction is unknown...
  21. pmc Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer
    Bo Wu
    McColl Lockwood Laboratory for Muscular Dystrophy, Neuromuscular ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA
    Proc Natl Acad Sci U S A 105:14814-9. 2008
    ..its application is limited by low potency and inefficiency in systemic delivery, especially failure to restore dystrophin in heart...
  22. pmc Cardiac expression of a mini-dystrophin that normalizes skeletal muscle force only partially restores heart function in aged Mdx mice
    Brian Bostick
    Department of Molecular Microbiology and Immunology, School of Medicine, The University of Missouri, Columbia, Missouri, USA
    Mol Ther 17:253-61. 2009
    ..Synthetic mini-/micro-dystrophin genes have yielded impressive skeletal muscle protection in animal models...
  23. pmc Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy
    Yen Hui Chiu
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Hum Mol Genet 18:1976-89. 2009
    ..This study reveals a novel pathomechanism affecting muscle regeneration and maintenance in dysferlinopathy and highlights enhancement of the neutrophil response as a potential therapeutic avenue in these disorders...
  24. ncbi Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins
    K S Song
    Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142 1479, USA
    J Biol Chem 271:15160-5. 1996
    ..plasma membrane) and coincides with the distribution of another muscle-specific plasma membrane marker protein, dystrophin. In addition, caveolin-3 protein expression is dramatically induced during the differentiation of C2C12 skeletal ..
  25. pmc Force and power output of fast and slow skeletal muscles from mdx mice 6-28 months old
    G S Lynch
    Institute of Gerontology, University of Michigan, Ann Arbor, MI 48109 2007, USA
    J Physiol 535:591-600. 2001
    1. Differences in the effect of age on structure-function relationships of limb muscles of mdx (dystrophin null) and control mice have not been resolved...
  26. ncbi Increased leakage of calcium ion from the sarcoplasmic reticulum of the mdx mouse
    A Takagi
    Department of Neurology, Toranomon Hospital, Tokyo, Japan
    J Neurol Sci 110:160-4. 1992
    ..function of the contractile system and the sarcoplasmic reticulum (SR) were analyzed in the skeletal muscle of the mdx mouse. Activation of the contractile system by calcium ion and the maximum force generation was normal...
  27. ncbi Morphometric analysis of mdx diaphragm muscle fibres. Comparison with hindlimb muscles
    J P Louboutin
    URA CNRS 1340, CHR G R Laënnec, Nantes, France
    Neuromuscul Disord 3:463-9. 1993
    Histological, histochemical and morphometric characteristics of diaphragm muscles from mdx and control mice were compared with those of hindlimb muscles [extensor digitorum longus (EDL), tibialis anterior (TA) and soleus (SA) muscles]...
  28. ncbi A role for mast cells in the progression of Duchenne muscular dystrophy? Correlations in dystrophin-deficient humans, dogs, and mice
    J R Gorospe
    Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, PA 15261
    J Neurol Sci 122:44-56. 1994
    b>Dystrophin deficiency has been shown to be the underlying cause of Duchenne muscular dystrophy...
  29. ncbi Delay of muscle degeneration and necrosis in mdx mice by calpain inhibition
    M A Badalamente
    Department of Orthopedics, Health Science Center, State University of New York at Stony Brook, Stony Brook, New York, USA
    Muscle Nerve 23:106-11. 2000
    Inhibition of muscle degeneration by the tripeptide calpain inhibitor, leupeptin, was tested in vivo in a dystrophin-deficient mdx murine model...
  30. ncbi Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology
    Melissa J Spencer
    Department of Pediatrics and UCLA Duchenne Muscular Dystrophy Research Center, University of California, Los Angeles, CA 90095 1606, USA
    Hum Mol Genet 11:2645-55. 2002
    Reduced sarcolemmal integrity in dystrophin-deficient muscles of mdx mice and Duchenne muscular dystrophy (DMD) patients has been reported to result in altered calcium homeostasis...
  31. ncbi Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin
    Bruno Gavillet
    Department of Pharmacology and Toxicology, University of Lausanne, Switzerland
    Circ Res 99:407-14. 2006
    ..These experiments revealed that the C-terminus associates with dystrophin, and that this interaction was mediated by alpha- and beta-syntrophin proteins...
  32. pmc Postnatal overexpression of the CT GalNAc transferase inhibits muscular dystrophy in mdx mice without altering muscle growth or neuromuscular development: evidence for a utrophin-independent mechanism
    Rui Xu
    Center for Gene Therapy, Columbus Children s Research Institute, Department of Pediatrics, Ohio State University College of Medicine and Public Health, 700 Children s Drive, Columbus, OH 43205, USA
    Neuromuscul Disord 17:209-20. 2007
    ..overexpression of Galgt2 did not reproducibly increase the expression of utrophin, synaptic laminins, or dystrophin-associated glycoproteins along infected myofibers...
  33. ncbi Systemic administration of micro-dystrophin restores cardiac geometry and prevents dobutamine-induced cardiac pump failure
    DeWayne Townsend
    Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, Michigan, USA
    Mol Ther 15:1086-92. 2007
    ..DMD) is a fatal disease of striated muscle deterioration resulting from the loss of the cytoskeletal protein dystrophin. Most patients develop significant cardiomyopathy, with heart failure being the second leading cause of death in ..
  34. pmc Lateral transmission of force is impaired in skeletal muscles of dystrophic mice and very old rats
    Krishnan S Ramaswamy
    Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan 48109 2200, USA
    J Physiol 589:1195-208. 2011
    The dystrophin–glycoprotein complex (DGC) provides an essential link from the muscle fibre cytoskeleton to the extracellular matrix...
  35. doi Chronic AMPK activation evokes the slow, oxidative myogenic program and triggers beneficial adaptations in mdx mouse skeletal muscle
    Vladimir Ljubicic
    Department of Cellular and Molecular Medicine, Faculty of Medicine, Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada K1H 8M5
    Hum Mol Genet 20:3478-93. 2011
    ..dystrophy (DMD) is to up-regulate utrophin in skeletal muscle in an effort to compensate for the lack of dystrophin. We previously hypothesized that promotion of the slow, oxidative myogenic program, which triggers utrophin up-..
  36. pmc β1D chain increases α7β1 integrin and laminin and protects against sarcolemmal damage in mdx mice
    Jianming Liu
    Department of Cell and Developmental Biology, University of Illinois, Urbana, IL 61801, USA
    Hum Mol Genet 21:1592-603. 2012
    The dystrophin-glycoprotein complex connects myofibers with extracellular matrix laminin. In Duchenne muscular dystrophy, this linkage system is absent and the integrity of muscle fibers is compromised...
  37. doi TRPC1 binds to caveolin-3 and is regulated by Src kinase - role in Duchenne muscular dystrophy
    Othon L Gervasio
    School of Medical Sciences, Discipline of Physiology F13, Bosch Institute, The University of Sydney, NSW 2006, Australia
    J Cell Sci 121:2246-55. 2008
    ..calcium (Ca(2+))-permeable channel, is potentially involved in the pathogenesis of Duchenne muscular dystrophy (DMD)...
  38. pmc Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy
    Jachinta E Rooney
    Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA
    Proc Natl Acad Sci U S A 106:7991-6. 2009
    Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease caused by mutations in the gene encoding dystrophin. Loss of dystrophin results in reduced sarcolemmal integrity and increased susceptibility to muscle damage...
  39. ncbi The molecular basis of muscular dystrophy in the mdx mouse: a point mutation
    P Sicinski
    Medical Research Unit, MRC Centre, Cambridge, United Kingdom
    Science 244:1578-80. 1989
    ..In both mouse and man the mutations lie within the dystrophin gene, but the phenotypic differences of the disease in the two species confer much interest on the molecular ..
  40. ncbi Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    M Koenig
    Cell 50:509-17. 1987
    The 14 kb human Duchenne muscular dystrophy (DMD) cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned...
  41. ncbi Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy
    A E Deconinck
    Department of Biochemistry, University of Oxford, United Kingdom
    Cell 90:717-27. 1997
    The absence of dystrophin at the muscle membrane leads to Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease that is inevitably fatal in early adulthood...
  42. pmc Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobblestone lissencephaly
    Agnieszka Niewmierzycka
    Department of Pathology, University of California, San Francisco, California 94143, USA
    J Neurosci 25:7022-31. 2005
    ..This study demonstrates a critical role for Ilk in cortical lamination and suggests that Ilk-associated pathways are involved in the pathogenesis of cobblestone lissencephalies...
  43. pmc Interplay of IKK/NF-kappaB signaling in macrophages and myofibers promotes muscle degeneration in Duchenne muscular dystrophy
    Swarnali Acharyya
    Human Cancer Genetics Program and Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA
    J Clin Invest 117:889-901. 2007
    Duchenne muscular dystrophy (DMD) is a lethal X-linked disorder associated with dystrophin deficiency that results in chronic inflammation and severe skeletal muscle degeneration...
  44. pmc Deregulated protein kinase A signaling and myospryn expression in muscular dystrophy
    Joseph G Reynolds
    Department of Biology, Program in Cell and Molecular Biology, Boston University, Boston, MA 02215, USA
    J Biol Chem 283:8070-4. 2008
    ..of Duchenne muscular dystrophy, a degenerative muscle disease caused by a deficiency in the costameric protein dystrophin. Accordingly, the notion of the dystrophin-glycoprotein complex, and by extension the costamere, as harboring ..
  45. pmc Muscular dystrophy begins early in embryonic development deriving from stem cell loss and disrupted skeletal muscle formation
    Deborah Merrick
    School of Biosciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
    Dis Model Mech 2:374-88. 2009
    ..Disruption of myogenesis occurs earlier in mdx mutants, which lack a functional form of dystrophin, than in cav-3(-/-) mutants, which lack the Cav3 gene that encodes the protein caveolin-3; this finding is ..
  46. pmc Flt-1 haploinsufficiency ameliorates muscular dystrophy phenotype by developmentally increased vasculature in mdx mice
    Mayank Verma
    Stem Cell Institute, University of Minnesota Medical School, Minneapolis, MN 55455, USA
    Hum Mol Genet 19:4145-59. 2010
    ..dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in the gene coding for the protein dystrophin. Recent work demonstrates that dystrophin is also found in the vasculature and its absence results in vascular ..
  47. ncbi Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex
    A A Hack
    Department of Molecular Genetics and Cell Biology, Section of Cardiology, University of Chicago, Chicago, IL 60637, USA
    J Cell Sci 113:2535-44. 2000
    Sarcoglycan is a multimeric, integral membrane glycoprotein complex that associates with dystrophin. Mutations in individual sarcoglycan subunits have been identified in inherited forms of muscular dystrophy...
  48. pmc Cytoplasmic gamma-actin contributes to a compensatory remodeling response in dystrophin-deficient muscle
    Laurin M Hanft
    Department of Physiology, University of Wisconsin, 1300 University Avenue, Madison, WI 53706, USA
    Proc Natl Acad Sci U S A 103:5385-90. 2006
    b>Dystrophin mechanically links the costameric cytoskeleton and sarcolemma, yet dystrophin-deficient muscle exhibits abnormalities in cell signaling, gene expression, and contractile function that are not clearly understood...
  49. pmc Skeletal muscle-specific ablation of gamma(cyto)-actin does not exacerbate the mdx phenotype
    Kurt W Prins
    Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, Minnesota, United States of America
    PLoS ONE 3:e2419. 2008
    We previously documented a ten-fold increase in gamma(cyto)-actin expression in dystrophin-deficient skeletal muscle and hypothesized that increased gamma(cyto)-actin expression may participate in an adaptive cytoskeletal remodeling ..
  50. ncbi Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia
    Swarnali Acharyya
    Human Cancer Genetics Program, The Ohio State University, Columbus, Ohio 43210, USA
    Cancer Cell 8:421-32. 2005
    ..We report that tumor-induced alterations in the muscular dystrophy-associated dystrophin glycoprotein complex (DGC) represent a key early event in cachexia...
  51. pmc Overexpression of the cytotoxic T cell (CT) carbohydrate inhibits muscular dystrophy in the dyW mouse model of congenital muscular dystrophy 1A
    Rui Xu
    Center for Gene Therapy, Columbus Children s Research Institute, Department of Pediatrics, Ohio State University College of Medicine and Public Health, Columbus, OH 43205, USA
    Am J Pathol 171:181-99. 2007
    ..of recent studies have demonstrated therapeutic effects of transgenes on the development of muscle pathology in the mdx mouse model for Duchenne muscular dystrophy, but none have been shown also to be effective in mouse models for ..
  52. pmc Protein-DNA array-based identification of transcription factor activities differentially regulated in skeletal muscle of normal and dystrophin-deficient mdx mice
    Charu Dogra
    Musculoskeletal Disease Center, Jerry L Pettis Memorial Veteren Affairs Medical Center, Loma Linda, CA 92357, USA
    Mol Cell Biochem 312:17-24. 2008
    Inactivation of dystrophin gene is the primary cause of Duchenne muscular dystrophy (DMD) in humans and mdx mice...
  53. doi A growth stimulus is needed for IGF-1 to induce skeletal muscle hypertrophy in vivo
    Thea Shavlakadze
    School of Anatomy and Human Biology, The University of Western Australia, Perth 6009, WA, Australia
    J Cell Sci 123:960-71. 2010
    Here, we characterise new strains of normal and dystrophic (mdx) mice that overexpress Class 2 IGF-1 Ea in skeletal myofibres...
  54. doi Upregulation of store-operated Ca2+ entry in dystrophic mdx mouse muscle
    Joshua N Edwards
    School of Biomedical Sciences, University of Queensland, Brisbane, QLD, Australia
    Am J Physiol Cell Physiol 299:C42-50. 2010
    ..of Ca(2+) from sarcoplasmic reticulum (SR) in skeletal muscle fibers from healthy (wild-type, WT) and dystrophic mdx mouse. The mdx fibers were found to have normal activation and deactivation properties of SOCE...
  55. ncbi T-cell-dependent fibrosis in the mdx dystrophic mouse
    J Morrison
    Muscle Cell Biology Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom
    Lab Invest 80:881-91. 2000
    ..be driven by the continuous degeneration and regeneration of muscle both in Duchenne Muscular Dystrophy and in the mdx mouse homolog...
  56. doi Diaphragm rescue alone prevents heart dysfunction in dystrophic mice
    Alastair Crisp
    MRC Annex Building, MRC Clinical Sciences Centre, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Hum Mol Genet 20:413-21. 2011
    ..X-linked recessive disease caused, in most cases, by the complete absence of the 427 kDa cytoskeletal protein, dystrophin. There is no effective treatment, and affected individuals die from respiratory failure and cardiomyopathy by ..
  57. ncbi Effect of voluntary wheel-running exercise on muscles of the mdx mouse
    G T Carter
    Department of Physical Medicine and Rehabilitation, University of California, School of Medicine, Davis 95616, USA
    Neuromuscul Disord 5:323-32. 1995
    The purpose of this study is to determine whether dystrophin-deficient mdx mice are more susceptible to muscle injury and functional impairment than normal C57 mice when allowed to exercise voluntarily on mouse wheels...
  58. ncbi Prevention of pathology in mdx mice by expression of utrophin: analysis using an inducible transgenic expression system
    S Squire
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK
    Hum Mol Genet 11:3333-44. 2002
    Duchenne muscular dystrophy results from the absence of dystrophin, a cytoskeletal protein...
  59. ncbi rAAV6-microdystrophin rescues aberrant Golgi complex organization in mdx skeletal muscles
    Justin M Percival
    Department of Physiology and Biophysics, University of Washington, Box 357290, 1959 NE Pacific Street, Seattle, WA 98195, USA
    Traffic 8:1424-39. 2007
    ..Thus, we investigated GC organization in the dystrophin-deficient muscles of mdx mice, a mouse model for Duchenne muscular dystrophy...
  60. pmc Inhibitory control over Ca(2+) sparks via mechanosensitive channels is disrupted in dystrophin deficient muscle but restored by mini-dystrophin expression
    Martin D H Teichmann
    Medical Biophysics, Department of Systems Physiology, Institute of Physiology and Pathophysiology, Ruprecht Karls University, Heidelberg, Germany
    PLoS ONE 3:e3644. 2008
    ..They may be related to mechanosensitive pathways but the mechanisms are elusive. Also, it is not known whether truncated dystrophins can correct the dystrophic disinhibition...
  61. doi Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy
    Sara Menazza
    Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy
    Hum Mol Genet 19:4207-15. 2010
    ..effect on the dystrophic phenotype of Col6a1(-/-) mice, a model of Bethlem myopathy and Ullrich congenital MD, and mdx mice, a model of Duchenne MD...
  62. ncbi The coexistence of embryonic and adult acetylcholine receptors in sarcolemma of mdx dystrophic mouse muscle: an effect of regeneration or muscular dystrophy?
    D Költgen
    Physiologisches Institut, Technischen Universitat Munchen, FRG
    Neurosci Lett 173:79-82. 1994
    In the sarcolemma of innervated dystrophic mdx mouse muscle we found the embryonic and the adult nicotinic acetylcholine receptor, where normally after innervation only the adult type would be expected, as can be shown with comparative ..
  63. ncbi Muscular weakness in the mdx mouse
    F Muntoni
    Istituto di Neuropsichiatria Infantile, Cagliari, Italy
    J Neurol Sci 120:71-7. 1993
    ..We conclude that dystrophin deficiency induces muscle degeneration and significant weakness in mdx mice, but only in an early period...
  64. ncbi Altered activity of signaling pathways in diaphragm and tibialis anterior muscle of dystrophic mice
    Joshua M Lang
    Muscle Biology Laboratory, School of Kinesiology, University of Illinois, Chicago, Illinois 60608, USA
    Exp Biol Med (Maywood) 229:503-11. 2004
    Duchenne muscular dystrophy is a musculoskeletal disease caused by mutations in the dystrophin gene...
  65. doi Myonucleus-related properties in soleus muscle fibers of mdx mice
    Masahiro Terada
    Osaka University, Japan
    Cells Tissues Organs 191:248-59. 2010
    ..and total number of myonuclei in single soleus muscle fibers, sampled from tendon to tendon, were analyzed in mdx and wild-type (WT) mice. Apoptotic myonuclei and the microscopic structure around the myonuclei were also analyzed...
  66. doi Eccentric contractions lead to myofibrillar dysfunction in muscular dystrophy
    Bert Blaauw
    Dept of Human Anatomy and Physiology, Univ of Padua, Padua, Italy
    J Appl Physiol (1985) 108:105-11. 2010
    It is commonly accepted that skeletal muscles from dystrophin-deficient mdx mice are more susceptible than those from wild-type mice to damage from eccentric contractions...
  67. pmc Bowman-Birk inhibitor attenuates dystrophic pathology in mdx mice
    C A Morris
    Department of Physiology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    J Appl Physiol (1985) 109:1492-9. 2010
    ..Duchenne muscular dystrophy (DMD) results from a loss of dystrophin protein and involves an ongoing inflammatory response, with matrix remodeling and activation of transforming ..
  68. doi Urocortins improve dystrophic skeletal muscle structure and function through both PKA- and Epac-dependent pathways
    Julie Reutenauer-Patte
    Laboratory of Pharmacology, Geneva Lausanne School of Pharmaceutical Sciences, University of Geneva, University of Lausanne, Geneva, Switzerland
    Am J Pathol 180:749-62. 2012
    In Duchenne muscular dystrophy, the absence of dystrophin causes progressive muscle wasting and premature death. Excessive calcium influx is thought to initiate the pathogenic cascade, resulting in muscle cell death...
  69. ncbi Abnormalities in structure and function of limb skeletal muscle fibres of dystrophic mdx mice
    S I Head
    Department of Zoology, La Trobe University, Melbourne, Victoria, Australia
    Proc Biol Sci 248:163-9. 1992
    In this study we have shown that the skeletal muscle fibres from adult (older than 26 weeks) mdx mice have gross structural deformities. We have characterized the onset and age dependence of this feature in mdx mice...
  70. ncbi New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin
    G A Cox
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109 0618
    Nat Genet 4:87-93. 1993
    The dystrophin gene encodes several tissue-specific protein isoforms that are generated by alternative splicing and by transcription from at least three separate promoters...
  71. ncbi Evolution of the mdx mouse cardiomyopathy: physiological and morphological findings
    John G Quinlan
    Departments of Neurology, University of Cincinnati, 4011 Medical Science Building, 231 Cincinnati, OH 45267 0525, USA
    Neuromuscul Disord 14:491-6. 2004
    ..In order to determine if the cardiac function of the mdx mouse is similarly disturbed, we performed murine echocardiograms and left heart catheterization studies, along ..
  72. ncbi Prevention of dystrophin-deficient cardiomyopathy in twenty-one-month-old carrier mice by mosaic dystrophin expression or complementary dystrophin/utrophin expression
    Brian Bostick
    Department of Molecular Microbiology and Immunology, The University of Missouri, School of Medicine, One Hospital Dr, M610G, MSB, Columbia, MO 65212, USA
    Circ Res 102:121-30. 2008
    A cure for dystrophin-deficient muscular dystrophy requires treating both skeletal muscle and the heart...
  73. ncbi Generation and characterization of transgenic mice with the full-length human DMD gene
    Peter A C 't Hoen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Postal Zone S4 P, PO Box 9600, 2300 RC Leiden, The Netherlands
    J Biol Chem 283:5899-907. 2008
    We report the generation of mice with an intact and functional copy of the 2.3-megabase human dystrophin gene (hDMD), the largest functional stretch of human DNA thus far integrated into a mouse chromosome...
  74. pmc Preservation of muscle force in Mdx3cv mice correlates with low-level expression of a near full-length dystrophin protein
    Dejia Li
    Department of Molecular Microbiology and Immunology, The University of Missouri, School of Medicine, One Hospital Dr M610G, MSB, Columbia, MO 65212, USA
    Am J Pathol 172:1332-41. 2008
    The complete absence of dystrophin causes Duchenne muscular dystrophy. Its restoration by greater than 20% is needed to reduce muscle pathology and improve muscle force...
  75. pmc Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle
    Andrew M Bellinger
    Clyde and Helen Wu Center for Molecular Cardiology, Department of Physiology and Cellular Biophysics, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, New York 10032, USA
    Nat Med 15:325-30. 2009
    Duchenne muscular dystrophy is characterized by progressive muscle weakness and early death resulting from dystrophin deficiency...
  76. pmc Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin
    Dejia Li
    Department of Molecular Microbiology and Immunology, School of Medicine, The University of Missouri, Columbia, MO 65212, USA
    J Cell Sci 123:2008-13. 2010
    Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by dystrophin deficiency. In normal muscle, dystrophin helps maintain sarcolemmal stability...
  77. pmc Nitrosative stress elicited by nNOSµ delocalization inhibits muscle force in dystrophin-null mice
    Dejia Li
    Department of Molecular Microbiology and Immunology, School of Medicine, The University of Missouri, Missouri 65212, USA
    J Pathol 223:88-98. 2011
    The mechanism of force reduction is not completely understood in Duchenne muscular dystrophy (DMD), a dystrophin-deficient lethal disease. Nitric oxide regulates muscle force...
  78. pmc Genotyping mdx, mdx3cv, and mdx4cv mice by primer competition polymerase chain reaction
    Jin Hong Shin
    Department of Molecular Microbiology and Immunology, University of Missouri School of Medicine, Columbia, MO 65212, USA
    Muscle Nerve 43:283-6. 2011
    ..Their disease is caused by point mutations in the dystrophin gene. Despite widespread use of these models, genotyping has not always been straightforward...
  79. pmc Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex
    DeWayne Townsend
    Department of Integrative Biology and Physiology, University of Minnesota, Minneapolis, MN 55455, USA
    FASEB J 25:3106-14. 2011
    Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophy (LGMD) 2C-F result from the loss of dystrophin and the sarcoglycans, respectively...
  80. ncbi Skeletal muscle pathology in X chromosome-linked muscular dystrophy (mdx) mouse
    Y Tanabe
    Acta Neuropathol 69:91-5. 1986
    ..analyses were performed chronologically on muscles from mutant mice with X chromosome-linked muscular dystrophy (mdx), and the findings were compared with those in nondystrophic control animals (C57BL/10ScSn)...
  81. pmc A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice
    M Wehling
    Department of Physiological Science, University of California at Los Angeles School of Medicine, Los Angeles, CA 90095, USA
    J Cell Biol 155:123-31. 2001
    b>Dystrophin-deficient muscles experience large reductions in expression of nitric oxide synthase (NOS), which suggests that NO deficiency may influence the dystrophic pathology...
  82. ncbi The role of utrophin and Dp71 for assembly of different dystrophin-associated protein complexes (DPCs) in the choroid plexus and microvasculature of the brain
    T Haenggi
    Institute of Pharmacology and Toxicology, University of Zurich, Winterthurerstrasse 190, CH 8057 Zurich, Switzerland
    Neuroscience 129:403-13. 2004
    ..present in the choroid plexus epithelium and vascular endothelial cells, whereas the short C-terminal isoform of dystrophin (Dp71) is localized in the glial end-feet surrounding blood vessels...
  83. doi Akt activation prevents the force drop induced by eccentric contractions in dystrophin-deficient skeletal muscle
    Bert Blaauw
    Department of Biomedical Sciences, CNR Institute of Neurosciences, University of Padova, Padova, Italy
    Hum Mol Genet 17:3686-96. 2008
    ..This specific sign of the susceptibility of dystrophin-deficient muscles to mechanical stress can be used as a quantitative test to measure the efficacy of therapeutic ..
  84. doi Abnormal cardiac morphology, function and energy metabolism in the dystrophic mdx mouse: an MRI and MRS study
    Wen Zhang
    Department of Physiology, Anatomy and Genetics, Sherrington Building, University of Oxford, Oxford, UK
    J Mol Cell Cardiol 45:754-60. 2008
    ..Transsarcolemmal creatine uptake was 12% lower in mdx mouse hearts. We conclude that the absence of dystrophin in adult mdx mouse heart, as in the heart of human patient, is associated with right ventricular dilatation, ..
  85. ncbi Dystrophin and utrophin do not play crucial roles in nonmuscle tissues in mice
    J A Rafael
    Department of Human Anatomy and Genetics, University of Oxford, UK
    Muscle Nerve 22:517-9. 1999
    The loss of full-length dystrophin from skeletal muscle leads to the clinical features of Duchenne muscular dystrophy...
  86. ncbi Large-scale analysis of differential gene expression in the hindlimb muscles and diaphragm of mdx mouse
    A V Tkatchenko
    Laboratoire de Physiopathologie Cellulaire et Moléculaire, INSERM Unité 300, Faculte de Pharmacie, 34060, Montpellier, France
    Biochim Biophys Acta 1500:17-30. 2000
    The mdx mouse is an animal model for Duchenne muscular dystrophy (DMD), which is caused by the absence of dystrophin. Mdx limb muscles substantially compensate for the lack of dystrophin while the diaphragm is affected like DMD skeletal ..
  87. pmc Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse
    C J Mann
    Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Perth, Western Australia 6009, Australia
    Proc Natl Acad Sci U S A 98:42-7. 2001
    Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease arising from defects in the dystrophin gene, typically nonsense or frameshift mutations, that preclude the synthesis of a functional protein...
  88. ncbi Regulation of the cardiac L-type Ca2+ channel by the actin-binding proteins alpha-actinin and dystrophin
    Abbas Sadeghi
    Department of Physiology and Neurobiology, University of Connecticut, Storrs, Connecticut 06269
    Am J Physiol Cell Physiol 282:C1502-11. 2002
    The actin-binding proteins dystrophin and alpha-actinin are members of a family of actin-binding proteins that may link the cytoskeleton to membrane proteins such as ion channels...
  89. ncbi Calcium entry through stretch-inactivated ion channels in mdx myotubes
    A Franco
    Department of Pharmacology, School of Medicine, University of California, San Francisco 94143 0450
    Nature 344:670-3. 1990
    ..in understanding the molecular basis of human X-linked muscular dystrophies have come from the identification of dystrophin, a cytoskeletal protein associated with the surface membrane...
  90. pmc Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice
    K Ohlendieck
    Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
    J Cell Biol 115:1685-94. 1991
    b>Dystrophin, the protein product of the human Duchenne muscular dystrophy gene, exists in skeletal muscle as a large oligomeric complex that contains four glycoproteins of 156, 50, 43, and 35 kD and a protein of 59 kD...
  91. ncbi Excitation contraction coupling in normal and mdx mice
    S Hollingworth
    Department of Physiological Sciences, Medical School, University of Newcastle upon Tyne, UK
    Muscle Nerve 13:16-20. 1990
    The protein dystrophin is absent from patients with Duchenne muscular dystrophy and from the muscles of mdx mice...
  92. ncbi The mdx mouse skeletal muscle myopathy: I. A histological, morphometric and biochemical investigation
    G R Coulton
    Department of Histopathology, Charing Cross and Westminster Medical School, London
    Neuropathol Appl Neurobiol 14:53-70. 1988
    Skeletal muscle has been examined in a colony of the mdx strain of myopathic mice...
  93. ncbi Ultrastructure of the skeletal muscle in the X chromosome-linked dystrophic (mdx) mouse. Comparison with Duchenne muscular dystrophy
    M J Cullen
    Muscular Dystrophy Group Research Laboratories, Newcastle General Hospital, Newcastle upon Tyne, UK
    Acta Neuropathol 77:69-81. 1988
    ..It has been proposed that the differences are due to secondary biochemical changes consequent on the absence of dystrophin in both conditions...
  94. ncbi Muscle development in mdx mutant mice
    J Dangain
    Muscle Nerve 7:700-4. 1984
    Mechanical and contractile properties of tibialis anterior (TA) muscles from X-linked muscular dystrophic (mdx) mutant mice at different stages of development are compared to those of muscles from normal control animals...
  95. ncbi Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy
    D J Wells
    Department of Veterinary Basic Sciences, Royal Veterinary College, London, UK
    Hum Mol Genet 4:1245-50. 1995
    ..reduce the myopathic phenotype in transgenic mdx mice, even when expressed at only 20-30% of endogenous dystrophin levels at the sarcolemma...
  96. ncbi Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice
    S F Phelps
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109 0618, USA
    Hum Mol Genet 4:1251-8. 1995
    Duchenne and Becker muscular dystrophy are caused by defects in the dystrophin gene, and are candidates for treatment by gene therapy...
  97. ncbi Muscular degeneration in Duchenne's dystrophy may be caused by a mitochondrial defect
    B Lucas-Heron
    Laboratoire de Physiologie, UER de Medecine, Nantes, France
    Med Hypotheses 44:298-300. 1995
    ..to account for this disease have not been swept away by the discovery of the DMD gene and the deficient protein, dystrophin, since the exact cellular role played by the latter is still unknown...
  98. ncbi Radiation inhibition of mdx mouse muscle regeneration: dose and age factors
    J G Quinlan
    Department of Neurology, University of Cincinnati, Ohio
    Muscle Nerve 18:201-6. 1995
    A single hind limb was irradiated with 12, 18, 24, or 30 Gy in mdx and C57 mice aged 12, 21, or 42 days to determine regeneration inhibition dose-response curves in different aged dystrophic mice and to characterize radiation side-..
  99. pmc Mechanical function of dystrophin in muscle cells
    C Pasternak
    Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St Louis, Missouri 63110
    J Cell Biol 128:355-61. 1995
    We have directly measured the contribution of dystrophin to the cortical stiffness of living muscle cells and have demonstrated that lack of dystrophin causes a substantial reduction in stiffness...
  100. ncbi Time course of changes in plasma membrane permeability in the dystrophin-deficient mdx mouse
    A McArdle
    Department of Medicine, University of Liverpool, United Kingdom
    Muscle Nerve 17:1378-84. 1994
    Control C57Bl/10 and mutant, dystrophin-deficient mdx mice of different ages were used to study the permeability of the plasma membrane to cytosolic components, to a vital stain (procion orange) and to extracellular 45calcium...
  101. ncbi Does muscular dystrophy affect metabolic rate? A study in mdx mice
    E E Dupont-Versteegden
    Department of Physiology, University of Texas Health Science Center, San Antonio 78284 7756
    J Neurol Sci 121:203-7. 1994
    In this study metabolic consequences of muscular dystrophy were investigated using the mdx mouse model. Measurements were performed on C57BL/10SNJ (control) and dystrophic (mdx) mice of ages 4-6 weeks (young) and 1 year (adult), i.e...

Research Grants33

  1. Novel hybrid AAV vectors for cystic fibrosis gene therapy
    Dongsheng Duan; Fiscal Year: 2008
    ..This is a generic approach independent of the transgene sequence. [unreadable] [unreadable] [unreadable]..
  2. Cardiac Contraction-Relaxation Coupling
    PAULUS JANSSEN; Fiscal Year: 2008
    ....
  3. FASEB Summer Conference on: The Biology of Calpains in Health and Disease
    Melissa Spencer; Fiscal Year: 2007
    ..The proposed program will provide the forum by which the momentum in this field may be maintained. [unreadable] [unreadable] [unreadable] [unreadable]..
  4. Study of Intrinsic Bladder Activity by Optical Imaging
    Anthony Kanai; Fiscal Year: 2007
    ..To study the neural-chemical control of spontaneous detrusor activity; and III.) To determine the origin of detrusor overactivity in partially obstructed bladders. ..
  5. THERAPEUTIC APPROACHES FOR MUSCULAR DYSTROPHY
    Melissa Spencer; Fiscal Year: 2006
    ..Collectively, these findings can provide the basis for design of immune interventions to reduce the pathology of dystrophin deficient muscle.
  6. Use of Albuterol in Spinal Cord Injury
    Richard Zeman; Fiscal Year: 2002
    ..PROPOSED COMMERCIAL APPLICATION: Use of beta 2-agonists like albuterol alone or together with x-irradiation maybe useful therapies for spinal cord injuries. ..
  7. Pathogenesis of autoimmune myositis: Role of MHC Class 1
    Kanneboyina Nagaraju; Fiscal Year: 2009
    ..abstract_text> ..
  8. Epsilon-sarcoglycan in LGMD Type 2D
    Kevin Campbell; Fiscal Year: 2009
    ....
  9. Apoptosis in Laminin alpha2-Deficient Muscle Pathology
    JANICE DOMINOV; Fiscal Year: 2009
    ....
  10. Notch Signaling and Satellite Cell Activation
    THOMAS RANDO; Fiscal Year: 2009
    ..abstract_text> ..
  11. Mechanisms of Spinal Cord Injury
    Richard Zeman; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  12. Ischemia and the Pathogenesis of Muscular Dystrophy
    Gail Thomas; Fiscal Year: 2008
    ..dystrophies, is a crippling, incurable disease caused by mutation of the gene encoding the sarcolemmal protein dystrophin. There currently is no effective treatment for DMD because the mechanism by which dystrophin deficiency produces ..
  13. Muscular Dystrophy Cooperative Research Center
    Jeffrey Chamberlain; Fiscal Year: 2007
    ..studies in dystrophic mice that lead to a phase I clinical tdal of gene therapy for Duchenne muscular dystrophy (DMD)...
  14. Altered phosphodiesterase expression in diseased muscle
    TIMOTHY BLOOM; Fiscal Year: 2007
    ..reported decreases in PDE expression in skeletal muscle from the mdx mouse, a model with the same defect in the dystrophin gene that causes Duchenne muscular dystrophy...
  15. FASEB Conference:Skeletal muscle satellite and stem cells
    THOMAS RANDO; Fiscal Year: 2007
    ..unreadable] [unreadable] We fully anticipate that progress in this field will pave the way for stem cell therapies for a variety of degenerative, inflammatory, and age-related disorders. [unreadable] [unreadable] [unreadable]..
  16. The Role of Cytokeratins in Skeletal Muscle Injury
    RICHARD LOVERING; Fiscal Year: 2006
    ..single-fibers to the whole-muscle findings and to mdx fibers transfected with a virus expressing a functional dystrophin, 2) To determine whether muscles lacking cytokeratin K8 or K19 are dystrophic and/or more susceptible to injury, ..
  17. Use of Tempol for Spinal Cord Injury
    Richard Zeman; Fiscal Year: 2004
    ..Optimization of tempol treatment may lead to a therapeutic modality for SCI. ..
  18. REGULATION OF MYOTENDINOUS JUNCTION STRUCTURE
    James Tidball; Fiscal Year: 2001
    ..Hind limb immobilization at shortened length followed by remobilization will be used to examine the effect of inhibition of NOS on sarcomere addition. ..
  19. Use of Clenbuterol for Enhancement of Stem Cell Therapy
    Richard Zeman; Fiscal Year: 2002
    ..The method will be patented, licensed and marketed as a new therapy. ..
  20. ESTROGEN/SYMPATHETIC VASOCONSTRICTION IN SKELETAL MUSCLE
    Gail Thomas; Fiscal Year: 2003
    ....
  21. Enhancement of Myoblast Chemotactic Migration
    JANICE DOMINOV; Fiscal Year: 2003
    ..Normal myoblasts and those induced by cytokines will be injected into tail veins of mdx mice (model for DMD) undergoing muscle regeneration and extravasation into tissues assessed...
  22. Myostatin in Muscle Growth and Regeneration
    Kathryn Wagner; Fiscal Year: 2005
    ..In addition to the ultimate goal of providing clinical applications for muscle disease, this multidisciplinary approach should provide excellent training for a career integrating clinical myology and molecular neuroscience. ..
  23. Cellular Signaling and Muscular Dystrophies
    THOMAS RANDO; Fiscal Year: 2005
    ..Others, such as those due to dystrophin mutations, are due to abnormalities of protein complexes that are postulated to transduce signals from the ..
  24. OXIDATIVE STRESS AND MUSCLE CELL DEATH
    THOMAS RANDO; Fiscal Year: 2005
    ..3 explore the mechanism of increased susceptibility to oxidative stress of muscles that have abnormalities in dystrophin expression which, in vivo, cause muscular dystrophies...
  25. Myeloid Cell Function in Muscular Dystrophy
    James Tidball; Fiscal Year: 2005
    ..Although mutations in the dystrophin gene are primarily responsible for DMD and animal models of DMD, many features of dystrophinopathies indicate ..
  26. Extraocular muscle stem cells for DMD therapy
    Tejvir Khurana; Fiscal Year: 2005
    ..DMD) is a fatal disorder caused by mutations in the DMD gene that results in an absence or severe reduction of dystrophin. Current therapies can not significantly slow down, let alone cure the disease...
  27. Pathogenic mechanisms that initiate DMD
    Robert Grange; Fiscal Year: 2006
    ..The loss of dystrophin, and additional proteins of the dystrophin-glycoprotein complex from the muscle membrane characterize DMD...
  28. Dystrophic Cardiomyopathies in mdx
    DeWayne Townsend; Fiscal Year: 2006
    ..DMD results from the absence of dystrophin, a large protein found primarily in striated muscle...
  29. Enhancing Recovery of Muscle after Rotator Cuff Repair
    Elisabeth Barton; Fiscal Year: 2006
    ..Ultimately, the goal the of proposed study is to develop appropriate therapeutic strategies for the treatment of rotator cuff injury. ..
  30. Molecular Characterization of Extraocular Muscle (EOM)
    Tejvir S Khurana; Fiscal Year: 2010
    ..gravis, Grave's disease and mitochondrial myopathies;they are spared, however, in Duchenne muscular dystrophy (DMD), despite the widespread involvement of all other skeletal muscle groups...
  31. Jeffrey S Chamberlain; Fiscal Year: 2016
    ..Duchenne muscular dystrophy (DMD) is an X-linked recessive, lethal disorder caused by mutations in the dystrophin gene...
  32. Regulation of Utrophin Promoter in Muscle
    Tejvir Khurana; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Utrophin (dystrophin related protein) shares extensive sequence homology and organizational motifs with dystrophin, and is considered to be the autosomal homolog of dystrophin...