James J Dowling

Summary

Affiliation: University of Michigan
Country: USA

Publications

  1. pmc Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy
    James J Dowling
    Department of Paediatrics, University of Michigan Medical School, Ann Arbor, MI 48109 2200, USA
    Brain 135:1115-27. 2012
  2. ncbi request reprint Murine Fig4 is dispensable for muscle development but required for muscle function
    Aaron Reifler
    Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109 2200, USA
    Skelet Muscle 3:21. 2013
  3. pmc Neb: a zebrafish model of nemaline myopathy due to nebulin mutation
    William R Telfer
    Departments of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109 2200, USA
    Dis Model Mech 5:389-96. 2012
  4. pmc Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
    James J Dowling
    Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, Ann Arbor, MI 48109 2200, USA
    Dis Model Mech 5:852-9. 2012
  5. pmc Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
    James J Dowling
    Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, Michigan, USA
    PLoS Genet 5:e1000372. 2009
  6. doi request reprint Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function
    James J Dowling
    Division of Pediatric Neurology, L3215 Women s Hospital, Ann Arbor, MI 48109 0203, USA
    Circ Res 102:423-31. 2008
  7. pmc Kindlin-2 is required for myocyte elongation and is essential for myogenesis
    James J Dowling
    Department of Pediatrics, University of Michigan, Ann Arbor, USA
    BMC Cell Biol 9:36. 2008
  8. pmc Neuromuscular effects of G93A-SOD1 expression in zebrafish
    Stacey A Sakowski
    Department of Neurology, University of Michigan, 109 Zina Pitcher Place, Ann Arbor 5017 AAT BSRBMI, USA
    Mol Neurodegener 7:44. 2012
  9. pmc Membrane traffic and muscle: lessons from human disease
    James J Dowling
    Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109, USA
    Traffic 9:1035-43. 2008
  10. pmc Two dynamin-2 genes are required for normal zebrafish development
    Elizabeth M Gibbs
    Department of Neurology, University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS ONE 8:e55888. 2013

Collaborators

Detail Information

Publications25

  1. pmc Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy
    James J Dowling
    Department of Paediatrics, University of Michigan Medical School, Ann Arbor, MI 48109 2200, USA
    Brain 135:1115-27. 2012
    ..We propose that N-acetylcysteine represents the first potential therapeutic strategy for these debilitating muscle diseases...
  2. ncbi request reprint Murine Fig4 is dispensable for muscle development but required for muscle function
    Aaron Reifler
    Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109 2200, USA
    Skelet Muscle 3:21. 2013
    ..Mutation of FIG4 results in a severe neurodegenerative disorder in mice and a progressive peripheral polyneuropathy in humans. The effect of FIG4 mutation on skeletal muscle has yet to be examined...
  3. pmc Neb: a zebrafish model of nemaline myopathy due to nebulin mutation
    William R Telfer
    Departments of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109 2200, USA
    Dis Model Mech 5:389-96. 2012
    ..In summary, neb zebrafish mirror the genetic, clinical and pathological aspects of nemaline myopathy due to NEB mutation, and thus are an excellent model for future therapy development for this devastating disorder...
  4. pmc Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
    James J Dowling
    Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, Ann Arbor, MI 48109 2200, USA
    Dis Model Mech 5:852-9. 2012
    ..In all, these results describe a newly identified pathological abnormality in MTM, and uncover a potential disease-modifying therapy for this devastating disorder...
  5. pmc Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
    James J Dowling
    Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, Michigan, USA
    PLoS Genet 5:e1000372. 2009
    ..Based on our findings, we speculate that congenital myopathies, usually considered entities with similar clinical features but very disparate pathomechanisms, may at their root be disorders of calcium homeostasis...
  6. doi request reprint Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function
    James J Dowling
    Division of Pediatric Neurology, L3215 Women s Hospital, Ann Arbor, MI 48109 0203, USA
    Circ Res 102:423-31. 2008
    ..These findings provide the first characterization of the in vivo functions of this novel and critical regulator of cardiogenesis...
  7. pmc Kindlin-2 is required for myocyte elongation and is essential for myogenesis
    James J Dowling
    Department of Pediatrics, University of Michigan, Ann Arbor, USA
    BMC Cell Biol 9:36. 2008
    ..Unc-112 is an integrin-associated protein required for muscle development in C. elegans. To better understand the intracellular effectors of integrin signaling in muscle, we examined the mammalian homolog of Unc-112, kindlin-2...
  8. pmc Neuromuscular effects of G93A-SOD1 expression in zebrafish
    Stacey A Sakowski
    Department of Neurology, University of Michigan, 109 Zina Pitcher Place, Ann Arbor 5017 AAT BSRBMI, USA
    Mol Neurodegener 7:44. 2012
    ..Defects in the distal axon and at the neuromuscular junction are early events in the disease course, and zebrafish provide a promising in vivo system to examine cellular mechanisms and treatments for these events in ALS pathogenesis...
  9. pmc Membrane traffic and muscle: lessons from human disease
    James J Dowling
    Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109, USA
    Traffic 9:1035-43. 2008
    ..This review highlights our current understanding of the trafficking genes responsible for human myopathies...
  10. pmc Two dynamin-2 genes are required for normal zebrafish development
    Elizabeth M Gibbs
    Department of Neurology, University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS ONE 8:e55888. 2013
    ..Our findings suggest that dnm2 and dnm2-like are orthologs to human DNM2, and that they are required for normal zebrafish development...
  11. ncbi request reprint Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy
    Eric J Horstick
    Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Commun 4:1952. 2013
    ..Analysis of NAM stac3 in zebrafish shows that the NAM mutation decreases excitation-contraction coupling. These findings enhance our understanding of both excitation-contraction coupling and the pathology of myopathies...
  12. doi request reprint Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy
    Elizabeth M Gibbs
    Department of Neurology, Taubman Medical Research Institute, University of Michigan Medical Center, BSRB 5017, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
    J Mol Med (Berl) 91:727-37. 2013
    ....
  13. ncbi request reprint The role of MTMR14 in autophagy and in muscle disease
    Elizabeth M Gibbs
    Departments of Pediatrics and Neurology, University of Michigan, Ann Arbor, MI, USA
    Autophagy 6:819-20. 2010
    ..Our study provides the first in vivo evidence for a role of myotubularins, and in particular MTMR14, in the regulation of autophagy...
  14. pmc Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J
    Guy M Lenk
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
    PLoS Genet 7:e1002104. 2011
    ..The transgenic model will be useful for testing in vivo interventions to increase the abundance of the mutant protein...
  15. ncbi request reprint Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies
    Elizabeth M Gibbs
    Departments of Neuroscience, Neurology and Pediatrics, University of Michigan Medical Center, Ann Arbor, MI, USA
    FEBS J 280:4187-97. 2013
    ....
  16. pmc Genotype-phenotype correlations in recessive RYR1-related myopathies
    Kimberly Amburgey
    Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
    Orphanet J Rare Dis 8:117. 2013
    ..To date, no clear patterns have been identified in these recessive mutations, though no systematic examination has yet been performed...
  17. pmc The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
    Elizabeth M Gibbs
    Department of Neuroscience, University of Michigan Medical Center, Ann Arbor, MI 48109 2200, USA
    Dis Model Mech 7:157-61. 2014
    ..Expression of DNM2-S619L in COS7 cells resulted in defective BIN1-dependent tubule formation. These data suggest that DNM2-S619L causes disease, in part, by interfering with membrane tubulation. ..
  18. pmc A novel approach to study motor neurons from zebrafish embryos and larvae in culture
    Stacey A Sakowski
    Department of Neurology, University of Michigan, Ann Arbor, MI, USA
    J Neurosci Methods 205:277-82. 2012
    ....
  19. ncbi request reprint Conditional knockout of pik3c3 causes a murine muscular dystrophy
    Aaron Reifler
    Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, Michigan Neuroscience Graduate Program, University of Michigan Medical Center, Ann Arbor, Michigan
    Am J Pathol 184:1819-30. 2014
    ..In all, we present the first analysis of Pik3c3 in skeletal muscle, and report a novel association between deletion of Pik3c3 and muscular dystrophy. ..
  20. pmc Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1
    Peter K Todd
    Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA
    Dis Model Mech 7:143-55. 2014
    ....
  21. pmc Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies
    Ann E Davidson
    Department of Paediatrics, University of Michigan Medical Centre, Ann Arbor, MI 48109 2200, USA
    Brain 136:508-21. 2013
    ..We describe a novel β-tropomyosin mutation, two clinical-histopathological phenotypes not previously associated with β-tropomyosin and pathogenic data from the first animal model of β-tropomyosin-related myopathies...
  22. pmc Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
    Karen Majczenko
    Molecular and Behavioral Neuroscience Institute, University of Michigan Medical Center, Ann Arbor, MI 48109 2200, USA
    Am J Hum Genet 91:365-71. 2012
    ..Using a combination of linkage analysis, next-generation sequencing, and modeling in the zebrafish, we have identified a CCDC78 mutation associated with a unique myopathy with prominent internal nuclei and atypical cores...
  23. doi request reprint Prevalence of congenital myopathies in a representative pediatric united states population
    Kimberly Amburgey
    Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA
    Ann Neurol 70:662-5. 2011
    ..Our data broadly agrees with estimates from previous European studies and provides the first estimate of the prevalence of congenital myopathies in the United States. Ann Neurol 2011;70:662-665...
  24. pmc Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
    Clement Y Chow
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nature 448:68-72. 2007
    ..This novel form of autosomal recessive Charcot-Marie-Tooth disorder is designated CMT4J...
  25. doi request reprint King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    James J Dowling
    Division of Pediatric Neurology, Pediatric Neuromuscular Clinic, 5328 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, USA
    Neuromuscul Disord 21:420-7. 2011
    ..Our findings support the hypothesis that RYR1 mutations are associated with King-Denborough syndrome but that further genetic heterogeneity is likely...