DMD

Summary

Gene Symbol: DMD
Description: dystrophin
Alias: dystrophin
Species: dog
Products:     DMD

Top Publications

  1. Rodriguez M, Cai W, Kostin S, Lucchesi B, Schaper J. Ischemia depletes dystrophin and inhibits protein synthesis in the canine heart: mechanisms of myocardial ischemic injury. J Mol Cell Cardiol. 2005;38:723-33 pubmed
    ..we investigated all three intracellular/extracellular linkage systems of the sarcolemma using antibodies against dystrophin, beta-dystroglycan, gamma-sarcoglycan, vinculin, beta1-integrin, laminin, and spectrin...
  2. Urasawa N, Wada M, Machida N, Yuasa K, Shimatsu Y, Wakao Y, et al. Selective vacuolar degeneration in dystrophin-deficient canine Purkinje fibers despite preservation of dystrophin-associated proteins with overexpression of Dp71. Circulation. 2008;117:2437-48 pubmed publisher
    ..Nevertheless, the expression of dystrophin-associated proteins alpha-, beta-, gamma-, and delta-sarcoglycans and beta-dystroglycan was well maintained at ..
  3. Atencia Fernandez S, Shiel R, Mooney C, Nolan C. Muscular dystrophy in the Japanese Spitz: an inversion disrupts the DMD and RPGR genes. Anim Genet. 2015;46:175-84 pubmed publisher
    An X-linked muscular dystrophy, with deficiency of full-length dystrophin and expression of a low molecular weight dystrophin-related protein, has been described in Japanese Spitz dogs...
  4. Nghiem P, Bello L, Balog Alvarez C, López S, Bettis A, Barnett H, et al. Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy. Mamm Genome. 2017;28:106-113 pubmed publisher
    b>Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome...
  5. Barbash I, Cecchini S, Faranesh A, Virag T, Li L, Yang Y, et al. MRI roadmap-guided transendocardial delivery of exon-skipping recombinant adeno-associated virus restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Gene Ther. 2013;20:274-82 pubmed publisher
    ..Eliminating specific exons restores the open reading frame resulting in translation of truncated dystrophin protein...
  6. Sharma P, Basu S, Mitchell R, Stelmack G, Anderson J, Halayko A. Role of dystrophin in airway smooth muscle phenotype, contraction and lung function. PLoS ONE. 2014;9:e102737 pubmed publisher
    b>Dystrophin links the transmembrane dystrophin-glycoprotein complex to the actin cytoskeleton...
  7. Kornegay J, Bogan D, Bogan J, Dow J, Wang J, Fan Z, et al. Dystrophin-deficient dogs with reduced myostatin have unequal muscle growth and greater joint contractures. Skelet Muscle. 2016;6:14 pubmed publisher
    ..b>Dystrophin-deficient mdx mice in which myostatin is knocked out or inhibited postnatally have a less severe phenotype with ..
  8. Dell agnola C, Wang Z, Storb R, Tapscott S, Kuhr C, Hauschka S, et al. Hematopoietic stem cell transplantation does not restore dystrophin expression in Duchenne muscular dystrophy dogs. Blood. 2004;104:4311-8 pubmed
    Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene on the X-chromosome that result in skeletal and cardiac muscle damage and premature death...
  9. Tegeler C, Grange R, Bogan D, Markert C, Case D, Kornegay J, et al. Eccentric contractions induce rapid isometric torque drop in dystrophin-deficient dogs. Muscle Nerve. 2010;42:130-2 pubmed publisher
    ..the hypothesis that eccentric contractions (ECCs) rapidly induce greater-than-normal isometric torque drop in dystrophin-deficient golden retriever muscular dystrophy (GRMD) muscles...

More Information

Publications12

  1. Nghiem P, Hoffman E, Mittal P, Brown K, Schatzberg S, Ghimbovschi S, et al. Sparing of the dystrophin-deficient cranial sartorius muscle is associated with classical and novel hypertrophy pathways in GRMD dogs. Am J Pathol. 2013;183:1411-24 pubmed publisher
    Both Duchenne and golden retriever muscular dystrophy (GRMD) are caused by dystrophin deficiency. The Duchenne muscular dystrophy sartorius muscle and orthologous GRMD cranial sartorius (CS) are relatively spared/hypertrophied...
  2. Martin P, Golden B, Okerblom J, Camboni M, Chandrasekharan K, Xu R, et al. A comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle. PLoS ONE. 2014;9:e88226 pubmed publisher
    ..the cytotoxic T cell (CT) carbohydrate can impact the severity of muscular dystrophy arising from the loss of dystrophin in mdx mice...
  3. Pichavant C, Chapdelaine P, Cerri D, Bizario J, Tremblay J. Electrotransfer of the full-length dog dystrophin into mouse and dystrophic dog muscles. Hum Gene Ther. 2010;21:1591-601 pubmed publisher
    Duchenne muscular dystrophy (DMD) is an X-linked genetic disease characterized by the absence of dystrophin (427?kDa)...