Dysferlin mutations and mitochondrial dysfunction

[1]  Robert W. Taylor,et al.  A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis , 2015, Scientific Reports.

[2]  Fuchen Liu,et al.  Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle , 2015, The International journal of neuroscience.

[3]  Colin P. Johnson,et al.  Quantitation of the calcium and membrane binding properties of the C2 domains of dysferlin. , 2014, Biophysical journal.

[4]  Robert W. Taylor,et al.  Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics , 2012, Brain : a journal of neurology.

[5]  S. Shankar,et al.  Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. , 2011, Indian journal of pathology & microbiology.

[6]  M. Lek,et al.  Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins , 2010, BMC Evolutionary Biology.

[7]  T. Prolla,et al.  Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations , 2010, Cell.

[8]  A. Nairn,et al.  CaM kinase Iα–induced phosphorylation of Drp1 regulates mitochondrial morphology , 2008, The Journal of cell biology.

[9]  S. Salamat,et al.  Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers. , 2006, American journal of human genetics.

[10]  K. Campbell,et al.  Dysferlin and the plasma membrane repair in muscular dystrophy. , 2004, Trends in cell biology.

[11]  Laura C. Greaves,et al.  Mitochondrial DNA mutations in human colonic crypt stem cells. , 2003, The Journal of clinical investigation.

[12]  Chien-Chang Chen,et al.  Defective membrane repair in dysferlin-deficient muscular dystrophy , 2003, Nature.

[13]  R. Rojas-García,et al.  Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients , 2001, Neurology.

[14]  V. Sukhorukov,et al.  Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy , 2000, Neurology.

[15]  C. Greenberg,et al.  Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). , 1999, Human molecular genetics.

[16]  Pieter J. de Jong,et al.  Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy , 1998, Nature Genetics.

[17]  J. Beckmann,et al.  A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B , 1998, Nature Genetics.

[18]  Robert W. Taylor,et al.  Adults with RRM 2 B-related mitochondrial disease have distinct clinical and molecular characteristics , 2012 .