Alan H Beggs

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
    Alan H Beggs
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research at Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 107:14697-702. 2010
  2. pmc Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
    Michael W Lawlor
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, CLSB 15026, Boston, MA 02115, USA
    Skelet Muscle 1:23. 2011
  3. ncbi Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression
    Despina Sanoudou
    Genomics Program and Divisison of Genetics, Children s Hospital Boston, and Harvard Medical School, MA 20115, USA
    Neurobiol Dis 15:590-600. 2004
  4. ncbi Variations in gene expression among different types of human skeletal muscle
    Peter B Kang
    Genomics Program, Enders 561, Howard Hughes Medical Institute and Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    Muscle Nerve 32:483-91. 2005
  5. ncbi Gene expression profiling of Duchenne muscular dystrophy skeletal muscle
    Judith N Haslett
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Neurogenetics 4:163-71. 2003
  6. pmc A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish
    Vandana A Gupta
    Genomics Program and Division of Genetics, Boston Children s Hospital, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston, Massachusetts, United States of America
    PLoS ONE 7:e43794. 2012
  7. ncbi Expression profiling and identification of novel genes involved in myogenic differentiation
    Kinga K Tomczak
    Genetics Division, Children s Hospital, Boston, Massachusetts 02115, USA
    FASEB J 18:403-5. 2004
  8. pmc Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population
    Kevin G Broadbelt
    Department of Pathology, Enders Building Room 1111, Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
    Pediatr Res 66:631-5. 2009
  9. pmc Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia
    Hanna T Gazda
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA
    Stem Cells 24:2034-44. 2006
  10. pmc Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia
    Michael Landowski
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Boston, MA, USA
    Hum Genet 132:1265-74. 2013

Detail Information

Publications60

  1. pmc MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
    Alan H Beggs
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research at Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 107:14697-702. 2010
    ..These data demonstrate that XLMTM in Labrador Retrievers is a faithful genetic model of the human condition...
  2. pmc Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
    Michael W Lawlor
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, CLSB 15026, Boston, MA 02115, USA
    Skelet Muscle 1:23. 2011
    ..abstract:..
  3. ncbi Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression
    Despina Sanoudou
    Genomics Program and Divisison of Genetics, Children s Hospital Boston, and Harvard Medical School, MA 20115, USA
    Neurobiol Dis 15:590-600. 2004
    ..Determination of the specific molecular differences in NM subgroups may eventually lead to improved prognostic determinations and treatment of these patients...
  4. ncbi Variations in gene expression among different types of human skeletal muscle
    Peter B Kang
    Genomics Program, Enders 561, Howard Hughes Medical Institute and Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    Muscle Nerve 32:483-91. 2005
    ..This approach may be extended to a broader survey, potentially elucidating a molecular classification of the skeletal muscles...
  5. ncbi Gene expression profiling of Duchenne muscular dystrophy skeletal muscle
    Judith N Haslett
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Neurogenetics 4:163-71. 2003
    ..It also highlights a large number of unknown genes whose expression is altered and whose identity therefore becomes important in understanding the pathogenesis of muscular dystrophy...
  6. pmc A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish
    Vandana A Gupta
    Genomics Program and Division of Genetics, Boston Children s Hospital, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston, Massachusetts, United States of America
    PLoS ONE 7:e43794. 2012
    ..This laminin-α2 deficient mutant fish represents a novel disease model to develop therapies for modulating splicing defects in congenital muscular dystrophies and to restore the muscle function in human patients with CMD...
  7. ncbi Expression profiling and identification of novel genes involved in myogenic differentiation
    Kinga K Tomczak
    Genetics Division, Children s Hospital, Boston, Massachusetts 02115, USA
    FASEB J 18:403-5. 2004
    ....
  8. pmc Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population
    Kevin G Broadbelt
    Department of Pathology, Enders Building Room 1111, Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
    Pediatr Res 66:631-5. 2009
    ..128-(191_192)dupA). The polymorphism seems to be a common, likely nonpathogenic, variant in the African-American population...
  9. pmc Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia
    Hanna T Gazda
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA
    Stem Cells 24:2034-44. 2006
    ..Downregulation of c-myb expression, which causes complete failure of fetal liver erythropoiesis in knockout mice, suggests a link between RPS19 mutations and reduced erythropoiesis in DBA...
  10. pmc Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia
    Michael Landowski
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Boston, MA, USA
    Hum Genet 132:1265-74. 2013
    ..These data identify RPL15 as a new gene involved in DBA and further support the presence of large deletions in RP genes in DBA patients...
  11. pmc Reproducibility of gene expression across generations of Affymetrix microarrays
    Ashish Nimgaonkar
    Informatics Program, Children s Hospital, Harvard Medical School, Boston, MA, USA
    BMC Bioinformatics 4:27. 2003
    ..In this study the reproducibility of gene expression levels across two generations of Affymetrix GeneChips (HuGeneFL and HG-U95A) was measured...
  12. pmc Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle
    Despina Sanoudou
    Division of Genetics, Children s Hospital, and Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 100:4666-71. 2003
    ..This comprehensive study of downstream molecular consequences of NM gene mutations provides insights in the cellular events leading to the NM phenotype...
  13. pmc Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
    Hanna T Gazda
    Division of Genetics, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Hum Genet 79:1110-8. 2006
    ..This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA...
  14. pmc Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
    Michael W Lawlor
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Harvard Medical School, Boston, MA, USA
    Hum Mol Genet 22:1525-38. 2013
    ..These promising findings suggest that even low levels of myotubularin protein replacement can improve the muscle weakness and reverse the pathology that characterizes XLMTM...
  15. pmc α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms
    Vandana Gupta
    Division of Genetics, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
    FASEB J 26:1892-908. 2012
    ..These data provide functional evidence that the primary sequences of α-actinin-2 and α-actinin-3 evolved differences to optimize their functions...
  16. ncbi Transcriptional profile of postmortem skeletal muscle
    Despina Sanoudou
    Genetics Division and Genomics Program, Boston, Massachusetts 02115, USA
    Physiol Genomics 16:222-8. 2004
    ..Knowledge of these changes is important for proper interpretation of gene expression studies utilizing autopsy specimens...
  17. pmc Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis
    Kenneth C Parker
    Harvard Partners Center for Genetics and Genomics, Proteomics Core, Harvard Medical School, Boston, Massachusetts USA
    Muscle Nerve 39:739-53. 2009
    ..Although muscle atrophy has long been recognized in IBM, these studies are the first to report specific proteins which are reduced in quantity in IBM muscle...
  18. pmc Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
    Pankaj B Agrawal
    Genomics Program, the Divisions of Genetics and Neonatology, Children s Hospital Boston, Boston, MA, 02115, USA
    Am J Hum Genet 80:162-7. 2007
    ....
  19. pmc Skeletal muscle repair in a mouse model of nemaline myopathy
    Despina Sanoudou
    Program in Genomics and Genetics Division, Children s Hospital Boston, Harvard Medical School, MA 02115, USA
    Hum Mol Genet 15:2603-12. 2006
    ..Evidence suggesting elevated focal repair was observed in nemaline muscle in electron micrographs. This analysis reveals that NM is characterized by a novel repair feature operating in multiple different muscles...
  20. pmc Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment
    Michael W Lawlor
    Division of Genetics and the Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Am J Pathol 181:961-8. 2012
    ....
  21. pmc SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
    Pankaj B Agrawal
    Division of Genetics and Genomics, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA Division of Newborn Medicine, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA Manton Center for Orphan Disease Research, Boston Children s Hospital and Harvard Medical School, Boston, MA 02115, USA Electronic address
    Am J Hum Genet 95:218-26. 2014
    ..SPEG is present in cardiac muscle, where it plays a critical role; therefore, individuals with SPEG mutations additionally present with dilated cardiomyopathy. ..
  22. pmc Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
    Vandana A Gupta
    Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 93:1108-17. 2013
    ..These studies expand the genetic heterogeneity of NM and implicate a critical role of BTB-Kelch family members in maintenance of sarcomeric integrity in NM. ..
  23. pmc Selenoprotein N deficiency in mice is associated with abnormal lung development
    Behzad Moghadaszadeh
    Division of Genetics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Boston, MA 02115, USA
    FASEB J 27:1585-99. 2013
    ..This finding raises the possibility that the respiratory syndrome observed in patients with SEPN1 mutations may have a primary pulmonary component in addition to the weakness of respiratory muscles...
  24. pmc Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish
    Vandana A Gupta
    Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    PLoS Genet 9:e1003583. 2013
    ....
  25. pmc Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis
    Ronan J Walsh
    Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Arthritis Rheum 56:3784-92. 2007
    ....
  26. pmc Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy
    Christopher R Pierson
    Department of Pathology, Division of Neuropathology, Children s Hospital Boston and Brigham, 300 Longwood Avenue, Boston, MA 02115, USA
    Neuromuscul Disord 17:562-8. 2007
    ..Failure to attain and/or maintain myofiber size, along with fiber type perturbations and the misplacement of myofiber nuclei and other organelles, are important components of XLMTM muscle pathology...
  27. pmc Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
    Steven E Boyden
    Division of Genetics, Program in Genomics, and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Neurogenetics 13:115-24. 2012
    ..Our data establish the importance of MEGF10 in human skeletal muscle and suggest satellite cell dysfunction as a novel myopathic mechanism...
  28. pmc Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes
    Richard R Bennett
    Program in Genomics and Division of Genetics, and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, Massachusetts, USA
    BMC Genet 10:66. 2009
    ..If true, this would allow automation and optimization of the mutation detection process resulting in reduced cost and increased throughput...
  29. pmc Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia
    Hanna T Gazda
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, 3 BlackfanCircle, Boston, MA 02115, USA
    Hum Mutat 33:1037-44. 2012
    ..We also found a deletion in RPL19 and missense mutations in RPL3 and RPL23A, which may be variants of unknown significance. Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to DBA...
  30. pmc Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion
    Michael W Lawlor
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Hum Mutat 31:176-83. 2010
    ..Several mutation-negative cases exhibited other abnormalities, such as central nuclei and central cores. These results support the utility of the CFTD diagnosis in directing the course of genetic testing...
  31. pmc Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
    Hanna T Gazda
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Hum Genet 83:769-80. 2008
    ....
  32. ncbi Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
    Igor Splawski
    Department of Cardiology, Children s Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Science 297:1333-6. 2002
    ..However, Y1102 may be a useful molecular marker for the prediction of arrhythmia susceptibility in the context of additional acquired risk factors such as the use of certain medications...
  33. pmc Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML
    Elspeth M Payne
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
    Blood 118:903-15. 2011
    ....
  34. pmc Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance
    Pankaj B Agrawal
    Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Boston, MA 02115, USA
    Hum Mol Genet 21:2341-56. 2012
    ..Overall, cofilin-2, although not critical for muscle development, is essential for muscle maintenance...
  35. pmc Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
    Ozge Ceyhan-Birsoy
    From the Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research O C B, P B A, K S A, E T D, L C S, K M, A H B, and Division of Newborn Medicine P B A, Boston Children s Hospital, Harvard Medical School, Boston, MA Department of Physiology and Sarver Molecular Cardiovascular Research Program C H, H G, University of Arizona, Tucson Center for Computational Molecular Biology and Department of Molecular and Cellular Biology and Biochemistry R S, W G F, Brown University, Providence, RI Department of Translational Medicine N V, J L, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France Departments of Pediatrics and Neurology and Neurotherapeutics S T I, University of Texas Southwestern Medical Center, Dallas Department of Neurology P B S, University of California, Los Angeles Division of Human Genetics N S, Department of Pediatrics, Rhode Island Hospital, Providence Department of Pediatrics, Division of Pediatric Pathology J M D, and Department of Pathology and Laboratory Medicine M W L, Medical College of Wisconsin, IDEC Pharmaceuticals Corporation
    Neurology 81:1205-14. 2013
    ....
  36. pmc Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion
    Massimiliano Cerletti
    Division of Genetics and Program in Genomics, Children s Hospital Boston, 320 Longwood Avenue, Boston, MA 02115, USA
    J Cell Sci 119:3117-27. 2006
    ..These studies identify M-CAM as a novel marker for myogenic progenitors in human fetal muscle and confirm that downregulation of this protein promotes myoblast fusion...
  37. pmc Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice
    Michael W Lawlor
    Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Harvard Medical School, Boston, Massachusetts Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin
    Am J Pathol 184:1831-42. 2014
    ..Our findings indicate that muscle-, fiber type-, and mutation-specific factors affect the response to hypertrophic therapies that will be important to assess in future therapeutic trials. ..
  38. pmc Altered translation of GATA1 in Diamond-Blackfan anemia
    Leif S Ludwig
    1 Division of Hematology and Oncology, Manton Center for Orphan Disease Research, Boston Children s Hospital, Boston, Massachusetts, USA 2 Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA 3 Whitehead Institute for Biomedical Research, Cambridge, Massachusetts, USA 4 Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA 5 Institute for Chemistry and Biochemistry, Freie Universitat Berlin, Berlin, Germany 6 Charité Universitätsmedizin Berlin, Berlin, Germany
    Nat Med 20:748-53. 2014
    ..Our results provide a paradigm by which selective defects in translation due to mutations affecting ubiquitous ribosomal proteins can result in human disease. ..
  39. pmc Distinctive patterns of microRNA expression in primary muscular disorders
    Iris Eisenberg
    Howard Hughes Medical Institute, Program in Genomics, Division of Genetics, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 104:17016-21. 2007
    ....
  40. ncbi Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations
    Pankaj B Agrawal
    Genomics Program and Division of Genetics, Children s Hospital Boston, MA 02115, USA
    Ann Neurol 56:86-96. 2004
    ..Overall, ACTA1 mutations are a common cause of NM, accounting for more than half of severe cases and 26% of all NM cases in this series...
  41. pmc Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy
    Laura L Smith
    Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Hum Mol Genet 23:3566-78. 2014
    ....
  42. pmc Dynamic regulation of endothelial NOS mediated by competitive interaction with alpha-actinin-4 and calmodulin
    Yukio Hiroi
    Vascular Medicine Research, Brigham and Women s Hospital, 65 Landsdowne Street, Boston, MA 02139, USA
    FASEB J 22:1450-7. 2008
    ..These findings indicate that eNOS activity in vascular endothelial cells is tonically and dynamically regulated by competitive interaction with alpha-actinin-4 and calmodulin...
  43. pmc The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies
    Vandana Gupta
    Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Hum Mol Genet 20:1712-25. 2011
    ....
  44. pmc Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
    Igor Splawski
    Howard Hughes Medical Institute, Department of Cardiology, and Genomics Program and Division of Genetics, Children s Hospital, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 102:8089-96; discussion 8086-8. 2005
    ..These data indicate that gain-of-function mutations of CaV1.2 exons 8 and 8A cause distinct forms of TS...
  45. pmc Selenoproteins and their impact on human health through diverse physiological pathways
    Behzad Moghadaszadeh
    Children s Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA
    Physiology (Bethesda) 21:307-15. 2006
    ....
  46. ncbi X-linked myotubular and centronuclear myopathies
    Christopher R Pierson
    Department of Pathology, Children s Hospital Boston, Massachusetts 02115, USA
    J Neuropathol Exp Neurol 64:555-64. 2005
    ..Currently the responsible gene(s) remain unknown. This review will explore the historical evolution in understanding of these myopathies and give an update on their histopathologic features, genetics and pathogenesis...
  47. ncbi The influence of muscle type and dystrophin deficiency on murine expression profiles
    Judith N Haslett
    Division of Genetics and Genomics Program, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Mamm Genome 16:739-48. 2005
    ..Further exploration of the genes that most distinguish these muscles may help explain the origins of the biomechanical differences and the reasons why some muscles are more resistant than others to dystrophin deficiency...
  48. ncbi Multiple serotonergic brainstem abnormalities in sudden infant death syndrome
    David S Paterson
    Department of Pathology, Children s Hospital Boston and Harvard Medical School, Boston, MA, USA
    JAMA 296:2124-32. 2006
    ..Previously, abnormalities in 5-HT receptor binding in the medullae of infants dying from sudden infant death syndrome (SIDS) were identified, suggesting that medullary 5-HT dysfunction may be responsible for a subset of SIDS cases...
  49. ncbi RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
    Hanna T Gazda
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA 02115, USA
    Br J Haematol 127:105-13. 2004
    ..Our data support the notion that, in addition to rare DBA patients with the deletion of one allele, the disease in certain other RPS19 mutant patients is because of RPS19 protein haplo-insufficiency...
  50. pmc Evidence by molecular profiling for a placental origin of infantile hemangioma
    Carmen M Barnes
    Vascular Biology Program and Department of Surgery, Children s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 102:19097-102. 2005
    ..Furthermore, it suggests that the unique self-limited growth of infantile hemangioma may, in fact, mirror the lifetime of placental endothelium...
  51. pmc Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
    Judith N Haslett
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 99:15000-5. 2002
    ....
  52. pmc Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice
    Michael W Lawlor
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Am J Pathol 178:784-93. 2011
    ..These results support ActRIIB-mFC as an effective treatment for the weakness observed in myotubularin deficiency...
  53. ncbi Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 14:461-70. 2004
    ..Finding the causative mutation(s) determines the mode of inheritance and permits prenatal diagnosis if requested, but will not as such permit prognostication...
  54. pmc Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
    Jason E Farrar
    Division of Pediatric Oncology, Department of Oncology, Kimmel Comprehensive Cancer Center
    Blood 112:1582-92. 2008
    ..The results also establish that haploinsufficiency of large ribosomal subunit proteins contributes to bone marrow failure and potentially cancer predisposition...
  55. ncbi Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance
    Edmar Zanoteli
    Department of Neurology, Universidade Federal de Sao Paulo UNIFESP, Sao Paulo, Brazil
    J Mol Neurosci 20:39-42. 2003
    ..The deficiency of ACTN3 in the muscle tissue of endurance athletes confirmed the redundancy of this protein for muscle function, even in muscles that are highly required...
  56. ncbi Rod distribution and muscle fiber type modification in the progression of nemaline myopathy
    Juliana Gurgel-Giannetti
    Centro de Estudos do Genoma Humano, Department of Biology, IB, School of Medicine, University of Sao Paulo, SP CEP, Brazil
    J Child Neurol 18:235-40. 2003
    ....
  57. ncbi Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
    John C Sparrow
    Department of Biology, University of York, York, YO10 5DD, UK
    Neuromuscul Disord 13:519-31. 2003
    ..g. actin myopathy. This would suggest that interference with certain actin functions may be more associated with certain phenotypes, though the exact pathophysiology of the actin mutations remains unknown...
  58. ncbi Telethonin protein expression in neuromuscular disorders
    Mariz Vainzof
    Center for the Study of the Human Genome, Department Biology, IBUSP, University of Sao Paulo, R do Matão, 277, sala 220 Cidade Universitária, Sao Paulo, Brazil
    Biochim Biophys Acta 1588:33-40. 2002
    ..Therefore, the primary deficiency of calpain-3, dysferlin, sarcoglycans, and dystrophin do not seem to alter telethonin expression...
  59. pmc AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
    Anna Buj-Bello
    Department of Neurobiology and Genetics, INSERM U596, CNRS UMR 7104, Universite Louis Pasteur de Strasbourg, College de France, 67404 Illkirch, France
    Hum Mol Genet 17:2132-43. 2008
    ..This study provides a proof-of-principle that local delivery of an AAV vector expressing myotubularin can improve the motor capacities of XLMTM muscle and represents a novel approach to study myotubularin function in skeletal muscle...
  60. ncbi Mutations in dynamin 2 cause dominant centronuclear myopathy
    Marc Bitoun
    INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitie Salpetriere, UPMC, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Nat Genet 37:1207-9. 2005
    ..The transfected mutants showed reduced labeling in the centrosome, suggesting that DNM2 mutations might cause centronuclear myopathy by interfering with centrosome function...

Research Grants14

  1. Alpha-actinins in normal and diseased muscle
    Alan Beggs; Fiscal Year: 2009
    ..Our results may also lead to insights into the role(s) that alpha-actinin genotypes may play in modulating and/or causing human neuromuscular disease. ..
  2. Alpha-actinins in normal and diseased muscle
    Alan Beggs; Fiscal Year: 2008
    ..Our results may also lead to insights into the role(s) that alpha-actinin genotypes may play in modulating and/or causing human neuromuscular disease. ..
  3. Alpha-actinins in normal and diseased muscle
    Alan Beggs; Fiscal Year: 2007
    ..Our results may also lead to insights into the role(s) that alpha-actinin genotypes may play in modulating and/or causing human neuromuscular disease. ..
  4. Alpha-actinins in normal and diseased muscle
    Alan Beggs; Fiscal Year: 2006
    ..Our results may also lead to insights into the role(s) that alpha-actinin genotypes may play in modulating and/or causing human neuromuscular disease. ..
  5. SARCOMERIC PROTEINS IN NORMAL AND DISEASED MUSCLE
    Alan Beggs; Fiscal Year: 2005
    ..Success in this project will enable accurate diagnostic and prognostic testing for all NM patients as well as shed new light on the structure and functions of normal and abnormal Z lines and thin filaments in skeletal muscle. ..
  6. SARCOMERIC PROTEINS IN NORMAL AND DISEASED MUSCLE
    Alan Beggs; Fiscal Year: 2004
    ..Success in this project will enable accurate diagnostic and prognostic testing for all NM patients as well as shed new light on the structure and functions of normal and abnormal Z lines and thin filaments in skeletal muscle. ..
  7. SARCOMERIC PROTEINS IN NORMAL AND DISEASED MUSCLE
    Alan Beggs; Fiscal Year: 2003
    ..Success in this project will enable accurate diagnostic and prognostic testing for all NM patients as well as shed new light on the structure and functions of normal and abnormal Z lines and thin filaments in skeletal muscle. ..
  8. SARCOMERIC PROTEINS IN NORMAL AND DISEASED MUSCLE
    Alan Beggs; Fiscal Year: 2002
    ..Success in this project will enable accurate diagnostic and prognostic testing for all NM patients as well as shed new light on the structure and functions of normal and abnormal Z lines and thin filaments in skeletal muscle. ..
  9. SARCOMERIC PROTEINS IN NORMAL AND DISEASED MUSCLE
    Alan Beggs; Fiscal Year: 2001
    ..Success in this project will enable accurate diagnostic and prognostic testing for all NM patients as well as shed new light on the structure and functions of normal and abnormal Z lines and thin filaments in skeletal muscle. ..
  10. ALPHA ACTININS IN NORMAL AND DISEASED MUSCLE
    Alan Beggs; Fiscal Year: 2000
    ..These experiments will also increase our understanding of alpha-actinin function and identify new interactions with existing and novel muscle proteins at the Z-line and elsewhere. ..
  11. ALPHA ACTININS IN NORMAL AND DISEASED MUSCLE
    Alan Beggs; Fiscal Year: 1999
    ..These experiments will also increase our understanding of alpha-actinin function and identify new interactions with existing and novel muscle proteins at the Z-line and elsewhere. ..
  12. Alpha-actinins in normal and diseased muscle
    Alan H Beggs; Fiscal Year: 2010
    ..Our results may also lead to insights into the role(s) that alpha-actinin genotypes may play in modulating and/or causing human neuromuscular disease. ..