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
Products:     Dmd

Top Publications

  1. Spitali P, Heemskerk H, Vossen R, Ferlini A, den Dunnen J, t Hoen P, et al. Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy. Lab Invest. 2010;90:1396-402 pubmed publisher
    ..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...
  2. Crisp A, Yin H, Goyenvalle A, Betts C, Moulton H, Seow Y, et al. Diaphragm rescue alone prevents heart dysfunction in dystrophic mice. Hum Mol Genet. 2011;20:413-21 pubmed publisher
    ..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 ..
  3. Cacchiarelli D, Incitti T, Martone J, Cesana M, Cazzella V, Santini T, et al. miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy. EMBO Rep. 2011;12:136-41 pubmed publisher
    Duchenne muscular dystrophy (DMD)--which is caused by mutations in the dystrophin gene-is one of the most severe myopathies...
  4. van Putten M, Kumar D, Hulsker M, Hoogaars W, Plomp J, van Opstal A, et al. Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains. Neuromuscul Disord. 2012;22:406-17 pubmed publisher
    ..By contrast, mice lacking utrophin and dystrophin (mdx/utrn -/-) are severely affected and die prematurely...
  5. Han R, Frett E, Levy J, Rader E, Lueck J, Bansal D, et al. Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice. J Clin Invest. 2010;120:4366-74 pubmed publisher
    ..mice but had no significant beneficial effect in a genetically distinct model of muscular dystrophy, mdx mice...
  6. Lancioni A, Rotundo I, Kobayashi Y, D Orsi L, Aurino S, Nigro G, et al. Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. Hum Mol Genet. 2011;20:4644-54 pubmed publisher
    ..It shows a complete loss of residual SGs and a strong reduction in both dystrophin and dystroglycan. Our data indicate that ?-SG is important in preventing cardiomyopathy in ?-SG deficiency.
  7. Townsend D, Yasuda S, McNally E, Metzger J. Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex. FASEB J. 2011;25:3106-14 pubmed publisher
    Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophy (LGMD) 2C-F result from the loss of dystrophin and the sarcoglycans, respectively...
  8. Mizunoya W, Upadhaya R, Burczynski F, Wang G, Anderson J. Nitric oxide donors improve prednisone effects on muscular dystrophy in the mdx mouse diaphragm. Am J Physiol Cell Physiol. 2011;300:C1065-77 pubmed publisher
    In Duchenne muscular dystrophy (DMD), palliative glucocorticoid therapy can produce myopathy or calcification...
  9. Yang L, Niu H, Gao X, Wang Q, Han G, Cao L, et al. Effective exon skipping and dystrophin restoration by 2'-o-methoxyethyl antisense oligonucleotide in dystrophin-deficient mice. PLoS ONE. 2013;8:e61584 pubmed publisher
    ..In this report, we focused on the effect of 2'-O-methoxyethyl oligonucleotides (MOE) on exon skipping in cultured mdx myoblasts and mice...
  10. Li D, Bareja A, Judge L, Yue Y, Lai Y, Fairclough R, et al. Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin. J Cell Sci. 2010;123:2008-13 pubmed publisher
    Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by dystrophin deficiency. In normal muscle, dystrophin helps maintain sarcolemmal stability...

Detail Information

Publications69

  1. Spitali P, Heemskerk H, Vossen R, Ferlini A, den Dunnen J, t Hoen P, et al. Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy. Lab Invest. 2010;90:1396-402 pubmed publisher
    ..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...
  2. Crisp A, Yin H, Goyenvalle A, Betts C, Moulton H, Seow Y, et al. Diaphragm rescue alone prevents heart dysfunction in dystrophic mice. Hum Mol Genet. 2011;20:413-21 pubmed publisher
    ..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 ..
  3. Cacchiarelli D, Incitti T, Martone J, Cesana M, Cazzella V, Santini T, et al. miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy. EMBO Rep. 2011;12:136-41 pubmed publisher
    Duchenne muscular dystrophy (DMD)--which is caused by mutations in the dystrophin gene-is one of the most severe myopathies...
  4. van Putten M, Kumar D, Hulsker M, Hoogaars W, Plomp J, van Opstal A, et al. Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains. Neuromuscul Disord. 2012;22:406-17 pubmed publisher
    ..By contrast, mice lacking utrophin and dystrophin (mdx/utrn -/-) are severely affected and die prematurely...
  5. Han R, Frett E, Levy J, Rader E, Lueck J, Bansal D, et al. Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice. J Clin Invest. 2010;120:4366-74 pubmed publisher
    ..mice but had no significant beneficial effect in a genetically distinct model of muscular dystrophy, mdx mice...
  6. Lancioni A, Rotundo I, Kobayashi Y, D Orsi L, Aurino S, Nigro G, et al. Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. Hum Mol Genet. 2011;20:4644-54 pubmed publisher
    ..It shows a complete loss of residual SGs and a strong reduction in both dystrophin and dystroglycan. Our data indicate that ?-SG is important in preventing cardiomyopathy in ?-SG deficiency.
  7. Townsend D, Yasuda S, McNally E, Metzger J. Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex. FASEB J. 2011;25:3106-14 pubmed publisher
    Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophy (LGMD) 2C-F result from the loss of dystrophin and the sarcoglycans, respectively...
  8. Mizunoya W, Upadhaya R, Burczynski F, Wang G, Anderson J. Nitric oxide donors improve prednisone effects on muscular dystrophy in the mdx mouse diaphragm. Am J Physiol Cell Physiol. 2011;300:C1065-77 pubmed publisher
    In Duchenne muscular dystrophy (DMD), palliative glucocorticoid therapy can produce myopathy or calcification...
  9. Yang L, Niu H, Gao X, Wang Q, Han G, Cao L, et al. Effective exon skipping and dystrophin restoration by 2'-o-methoxyethyl antisense oligonucleotide in dystrophin-deficient mice. PLoS ONE. 2013;8:e61584 pubmed publisher
    ..In this report, we focused on the effect of 2'-O-methoxyethyl oligonucleotides (MOE) on exon skipping in cultured mdx myoblasts and mice...
  10. Li D, Bareja A, Judge L, Yue Y, Lai Y, Fairclough R, et al. Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin. J Cell Sci. 2010;123:2008-13 pubmed publisher
    Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by dystrophin deficiency. In normal muscle, dystrophin helps maintain sarcolemmal stability...
  11. Menazza S, Blaauw B, Tiepolo T, Toniolo L, Braghetta P, Spolaore B, et al. Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy. Hum Mol Genet. 2010;19:4207-15 pubmed publisher
    ..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...
  12. Morris C, Selsby J, Morris L, Pendrak K, Sweeney H. Bowman-Birk inhibitor attenuates dystrophic pathology in mdx mice. J Appl Physiol (1985). 2010;109:1492-9 pubmed publisher
    ..Duchenne muscular dystrophy (DMD) results from a loss of dystrophin protein and involves an ongoing inflammatory response, with matrix remodeling and activation of transforming ..
  13. Chamberlain J. Duchenne muscular dystrophy models show their age. Cell. 2010;143:1040-2 pubmed publisher
    ..A new mouse model lacking both dystrophin and telomerase (Sacco et al...
  14. Marques M, Barbin I, Taniguti A, Oggian D, Ferretti R, Santo Neto H. Myocardial fibrosis is unaltered by long-term administration of L-arginine in dystrophin deficient mdx mice: a histomorphometric analysis. Acta Biol Hung. 2010;61:168-74 pubmed publisher
    ..In aging, the mdx mice, an animal model of DMD, MF is similar to that observed in humans...
  15. Percival J, Siegel M, Knowels G, Marcinek D. Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition. Hum Mol Genet. 2013;22:153-67 pubmed publisher
    ..Despite this foresight, mitochondrial function in dystrophin-deficient muscles has remained poorly defined and unknown in vivo...
  16. Cacchiarelli D, Martone J, Girardi E, Cesana M, Incitti T, Morlando M, et al. MicroRNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway. Cell Metab. 2010;12:341-51 pubmed publisher
    In Duchenne muscular dystrophy (DMD) the absence of dystrophin at the sarcolemma delocalizes and downregulates nitric oxide synthase (nNOS); this alters S-nitrosylation of HDAC2 and its chromatin association...
  17. Li D, Yue Y, Lai Y, Hakim C, Duan D. Nitrosative stress elicited by nNOSµ delocalization inhibits muscle force in dystrophin-null mice. J Pathol. 2011;223:88-98 pubmed publisher
    The mechanism of force reduction is not completely understood in Duchenne muscular dystrophy (DMD), a dystrophin-deficient lethal disease. Nitric oxide regulates muscle force...
  18. Ljubicic V, Miura P, Burt M, Boudreault L, Khogali S, Lunde J, et al. Chronic AMPK activation evokes the slow, oxidative myogenic program and triggers beneficial adaptations in mdx mouse skeletal muscle. Hum Mol Genet. 2011;20:3478-93 pubmed publisher
    ..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-..
  19. Edwards J, Friedrich O, Cully T, von Wegner F, Murphy R, Launikonis B. Upregulation of store-operated Ca2+ entry in dystrophic mdx mouse muscle. Am J Physiol Cell Physiol. 2010;299:C42-50 pubmed publisher
    ..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...
  20. Kim M, Kay D, Rudra R, Chen B, Hsu N, Izumiya Y, et al. Myogenic Akt signaling attenuates muscular degeneration, promotes myofiber regeneration and improves muscle function in dystrophin-deficient mdx mice. Hum Mol Genet. 2011;20:1324-38 pubmed publisher
    ..the most common form of childhood muscular dystrophy, is caused by X-linked inherited mutations in the dystrophin gene...
  21. Liu J, Milner D, Boppart M, Ross R, Kaufman S. ?1D chain increases ?7?1 integrin and laminin and protects against sarcolemmal damage in mdx mice. Hum Mol Genet. 2012;21:1592-603 pubmed publisher
    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...
  22. Judge L, Arnett A, Banks G, Chamberlain J. Expression of the dystrophin isoform Dp116 preserves functional muscle mass and extends lifespan without preventing dystrophy in severely dystrophic mice. Hum Mol Genet. 2011;20:4978-90 pubmed publisher
    Dp116 is a non-muscle isoform of dystrophin that assembles the dystrophin-glycoprotein complex (DGC), but lacks actin-binding domains...
  23. Lewis C, Ohlendieck K. Proteomic profiling of naturally protected extraocular muscles from the dystrophin-deficient mdx mouse. Biochem Biophys Res Commun. 2010;396:1024-9 pubmed publisher
    ..Fluorescence difference in-gel electrophoretic analysis of 9-week-old dystrophin-deficient versus age-matched normal extraocular muscle, using a pH 4-7 gel range, identified out of 1088 ..
  24. Boppart M, Burkin D, Kaufman S. Activation of AKT signaling promotes cell growth and survival in ?7?1 integrin-mediated alleviation of muscular dystrophy. Biochim Biophys Acta. 2011;1812:439-46 pubmed publisher
    ..pathology in a mouse model of Duchenne muscular dystrophy (mdx/utr(-/-)) and thus can compensate for the loss of dystrophin in diseased mice...
  25. Graciotti L, Becker J, Granata A, Procopio A, Tessarollo L, Fulgenzi G. Dystrophin is required for the normal function of the cardio-protective K(ATP) channel in cardiomyocytes. PLoS ONE. 2011;6:e27034 pubmed publisher
    ..other molecular events including K(ATP) ion channel complex presence, its functionality and interaction with dystrophin. We found that this channel complex is present in the dystrophic cardiac cell membrane but its ability to sense ..
  26. Ardite E, Perdiguero E, Vidal B, Gutarra S, Serrano A, Munoz Canoves P. PAI-1-regulated miR-21 defines a novel age-associated fibrogenic pathway in muscular dystrophy. J Cell Biol. 2012;196:163-75 pubmed publisher
    ..Genetic loss of PAI-1 in mdx dystrophic mice anticipated muscle fibrosis through these sequential mechanisms: the alteration of collagen ..
  27. Rufo A, Del Fattore A, Capulli M, Carvello F, De Pasquale L, Ferrari S, et al. Mechanisms inducing low bone density in Duchenne muscular dystrophy in mice and humans. J Bone Miner Res. 2011;26:1891-903 pubmed publisher
    Patients affected by Duchenne muscular dystrophy (DMD) and dystrophic MDX mice were investigated in this study for their bone phenotype and systemic regulators of bone turnover...
  28. Martins P, Ayub Guerrieri D, Martins Bach A, Onofre Oliveira P, Malheiros J, Tannús A, et al. Dmdmdx/Largemyd: a new mouse model of neuromuscular diseases useful for studying physiopathological mechanisms and testing therapies. Dis Model Mech. 2013;6:1167-74 pubmed publisher
    ..To help elucidate the role of the proteins dystrophin and LARGE in the organization of the dystrophin-glycoprotein complex in muscle sarcolemma, we generated double-..
  29. Burr A, Millay D, Goonasekera S, Park K, Sargent M, Collins J, et al. Na+ dysregulation coupled with Ca2+ entry through NCX1 promotes muscular dystrophy in mice. Mol Cell Biol. 2014;34:1991-2002 pubmed publisher
    ..musculature, as well as exacerbated the muscle disease phenotypes in ?-sarcoglycan (Sgcd(-/-)), Dysf(-/-), and mdx mouse models of muscular dystrophy...
  30. Kitamoto T, Hanaoka K. Notch3 null mutation in mice causes muscle hyperplasia by repetitive muscle regeneration. Stem Cells. 2010;28:2205-16 pubmed publisher
    ..Because overexpression of Notch3 activated the expression of Nrarp, a negative feedback regulator of Notch signaling, Notch3 might act as a Notch1 repressor by activating Nrarp. ..
  31. Huynh T, Uaesoontrachoon K, Quinn J, Tatem K, Heier C, van der Meulen J, et al. Selective modulation through the glucocorticoid receptor ameliorates muscle pathology in mdx mice. J Pathol. 2013;231:223-35 pubmed publisher
    ..of compound A in H-2K(b) -tsA58 mdx myoblasts and myotubes, and demonstrate improvements in disease phenotype of dystrophin deficient mdx mice...
  32. Petitprez S, Zmoos A, Ogrodnik J, Balse E, Raad N, El Haou S, et al. SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes. Circ Res. 2011;108:294-304 pubmed publisher
    ..5 (Ser-Ile-Val) constitute a PDZ-domain binding motif that interacts with the syntrophin-dystrophin complex. As dystrophin is absent at the intercalated discs, Na(v)1...
  33. Ramaswamy K, Palmer M, van der Meulen J, Renoux A, Kostrominova T, Michele D, et al. Lateral transmission of force is impaired in skeletal muscles of dystrophic mice and very old rats. J Physiol. 2011;589:1195-208 pubmed publisher
    The dystrophin–glycoprotein complex (DGC) provides an essential link from the muscle fibre cytoskeleton to the extracellular matrix...
  34. Dorchies O, Reutenauer Patte J, Dahmane E, Ismail H, Petermann O, Patthey Vuadens O, et al. The anticancer drug tamoxifen counteracts the pathology in a mouse model of duchenne muscular dystrophy. Am J Pathol. 2013;182:485-504 pubmed
    ..breast cancer, caused remarkable improvements of muscle force and of diaphragm and cardiac structure in the mdx(5Cv) mouse model of DMD...
  35. Liu N, Williams A, Maxeiner J, Bezprozvannaya S, Shelton J, Richardson J, et al. microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice. J Clin Invest. 2012;122:2054-65 pubmed publisher
    ..Our findings reveal an essential role for miR-206 in satellite cell differentiation during skeletal muscle regeneration and indicate that miR-206 slows progression of Duchenne muscular dystrophy. ..
  36. Shin J, Hakim C, Zhang K, Duan D. Genotyping mdx, mdx3cv, and mdx4cv mice by primer competition polymerase chain reaction. Muscle Nerve. 2011;43:283-6 pubmed publisher
    ..Their disease is caused by point mutations in the dystrophin gene. Despite widespread use of these models, genotyping has not always been straightforward...
  37. Whitehead N, Yeung E, Froehner S, Allen D. Skeletal muscle NADPH oxidase is increased and triggers stretch-induced damage in the mdx mouse. PLoS ONE. 2010;5:e15354 pubmed publisher
    Recent studies have shown that oxidative stress contributes to the pathogenesis of muscle damage in dystrophic (mdx) mice. In this study we have investigated the role of NADPH oxidase as a source of the oxidative stress in these mice...
  38. Altamirano F, Valladares D, Henríquez Olguín C, Casas M, Lopez J, Allen P, et al. Nifedipine treatment reduces resting calcium concentration, oxidative and apoptotic gene expression, and improves muscle function in dystrophic mdx mice. PLoS ONE. 2013;8:e81222 pubmed publisher
    ..Muscular Dystrophy (DMD) is a recessive X-linked genetic disease, caused by mutations in the gene encoding dystrophin. DMD is characterized in humans and in mdx mice by a severe and progressive destruction of muscle fibers, ..
  39. Godin R, Daussin F, Matecki S, Li T, Petrof B, Burelle Y. Peroxisome proliferator-activated receptor ? coactivator1- gene ? transfer restores mitochondrial biomass and improves mitochondrial calcium handling in post-necrotic mdx mouse skeletal muscle. J Physiol. 2012;590:5487-502 pubmed publisher
    ..Overall, these results suggest that overexpression of PGC1? in dystrophin-deficient muscles, after the onset of necrosis, has direct beneficial effects upon multiple aspects of ..
  40. Kumar A, Bhatnagar S, Kumar A. Matrix metalloproteinase inhibitor batimastat alleviates pathology and improves skeletal muscle function in dystrophin-deficient mdx mice. Am J Pathol. 2010;177:248-60 pubmed publisher
    Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, involves severe muscle degeneration, inflammation, fibrosis, and early death in afflicted boys...
  41. Stuckey D, Carr C, Camelliti P, Tyler D, Davies K, Clarke K. In vivo MRI characterization of progressive cardiac dysfunction in the mdx mouse model of muscular dystrophy. PLoS ONE. 2012;7:e28569 pubmed publisher
    The mdx mouse has proven to be useful in understanding the cardiomyopathy that frequently occurs in muscular dystrophy patients...
  42. Wehling Henricks M, Jordan M, Gotoh T, Grody W, Roos K, Tidball J. Arginine metabolism by macrophages promotes cardiac and muscle fibrosis in mdx muscular dystrophy. PLoS ONE. 2010;5:e10763 pubmed publisher
    Duchenne muscular dystrophy (DMD) is the most common, lethal disease of childhood. One of 3500 new-born males suffers from this universally-lethal disease...
  43. Yoon J, Johnson E, Xu R, Martin L, Martin P, Montanaro F. Comparative proteomic profiling of dystroglycan-associated proteins in wild type, mdx, and Galgt2 transgenic mouse skeletal muscle. J Proteome Res. 2012;11:4413-24 pubmed publisher
    ..Here we describe an immunoprecipitation technique that allows isolation of beta dystroglycan with members of the dystrophin-associated protein complex (DAPC) from detergent-solubilized skeletal muscle...
  44. Aoki Y, Nakamura A, Yokota T, Saito T, Okazawa H, Nagata T, et al. In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse. Mol Ther. 2010;18:1995-2005 pubmed publisher
    ..In-frame deletions of the hinge 3 region of the dystrophin protein, which is encoded by exons 50 and 51, are predicted to cause a variety of phenotypes...
  45. Reutenauer Patte J, Boittin F, Patthey Vuadens O, Ruegg U, Dorchies O. Urocortins improve dystrophic skeletal muscle structure and function through both PKA- and Epac-dependent pathways. Am J Pathol. 2012;180:749-62 pubmed publisher
    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...
  46. Sacco A, Mourkioti F, Tran R, Choi J, Llewellyn M, Kraft P, et al. Short telomeres and stem cell exhaustion model Duchenne muscular dystrophy in mdx/mTR mice. Cell. 2010;143:1059-71 pubmed publisher
    In Duchenne muscular dystrophy (DMD), dystrophin mutation leads to progressive lethal skeletal muscle degeneration...
  47. Amenta A, Yilmaz A, Bogdanovich S, McKechnie B, Abedi M, Khurana T, et al. Biglycan recruits utrophin to the sarcolemma and counters dystrophic pathology in mdx mice. Proc Natl Acad Sci U S A. 2011;108:762-7 pubmed publisher
    Duchenne muscular dystrophy (DMD) is caused by mutations in dystrophin and the subsequent disruption of the dystrophin-associated protein complex (DAPC)...
  48. Han R, Rader E, Levy J, Bansal D, Campbell K. Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null mice. Skelet Muscle. 2011;1:35 pubmed publisher
    Mutations in the genes coding for either dystrophin or dysferlin cause distinct forms of muscular dystrophy. Dystrophin links the cytoskeleton to the sarcolemma through direct interaction with ?-dystroglycan...
  49. Adamo C, Dai D, Percival J, Minami E, Willis M, Patrucco E, et al. Sildenafil reverses cardiac dysfunction in the mdx mouse model of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2010;107:19079-83 pubmed publisher
    ..Patients with DMD lack expression of the protein dystrophin as a result of mutations in the X-linked dystrophin gene...
  50. Dahiya S, Givvimani S, Bhatnagar S, Qipshidze N, Tyagi S, Kumar A. Osteopontin-stimulated expression of matrix metalloproteinase-9 causes cardiomyopathy in the mdx model of Duchenne muscular dystrophy. J Immunol. 2011;187:2723-31 pubmed publisher
    Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is a common and lethal form of muscular dystrophy. With progressive disease, most patients succumb to death from respiratory or heart failure, or both...
  51. Hindi S, Shin J, Ogura Y, Li H, Kumar A. Matrix metalloproteinase-9 inhibition improves proliferation and engraftment of myogenic cells in dystrophic muscle of mdx mice. PLoS ONE. 2013;8:e72121 pubmed publisher
    Duchenne muscular dystrophy (DMD) caused by loss of cytoskeletal protein dystrophin is a devastating disorder of skeletal muscle...
  52. Marshall J, Holmberg J, Chou E, Ocampo A, Oh J, Lee J, et al. Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration. J Cell Biol. 2012;197:1009-27 pubmed publisher
    ..normally confined to the neuromuscular junction (NMJ) in adult muscle and partially compensates for the loss of dystrophin in mdx mice. We show that Akt signaling and utrophin levels were diminished in sarcospan (SSPN)-deficient muscle...
  53. Albesa M, Ogrodnik J, Rougier J, Abriel H. Regulation of the cardiac sodium channel Nav1.5 by utrophin in dystrophin-deficient mice. Cardiovasc Res. 2011;89:320-8 pubmed publisher
    Duchenne muscular dystrophy (DMD) is a severe striated muscle disease due to the absence of dystrophin. Dystrophin deficiency results in dysfunctional sodium channels and conduction abnormalities in hearts of mdx mice...
  54. Mu X, Usas A, Tang Y, Lu A, Wang B, Weiss K, et al. RhoA mediates defective stem cell function and heterotopic ossification in dystrophic muscle of mice. FASEB J. 2013;27:3619-31 pubmed publisher
    ..b>Dystrophin-deficient mdx mice and dystrophin/utrophin double-knockout (dKO) mice are mouse models of DMD; however, mdx mice ..
  55. Hollinger K, Gardan Salmon D, Santana C, Rice D, Snella E, Selsby J. Rescue of dystrophic skeletal muscle by PGC-1? involves restored expression of dystrophin-associated protein complex components and satellite cell signaling. Am J Physiol Regul Integr Comp Physiol. 2013;305:R13-23 pubmed publisher
    ..05), likely driven by the five-fold (P < 0.05) increase in utrophin protein expression and increase in dystrophin-associated complex members...
  56. von Maltzahn J, Renaud J, Parise G, Rudnicki M. Wnt7a treatment ameliorates muscular dystrophy. Proc Natl Acad Sci U S A. 2012;109:20614-9 pubmed publisher
    ..the therapeutic potential of the secreted factor Wnt7a for focal treatment of dystrophic DMD muscles using the mdx mouse model, and found that Wnt7a treatment efficiently induced satellite cell expansion and myofiber hypertrophy ..
  57. Henderson D, Lee A, Ervasti J. Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation. Proc Natl Acad Sci U S A. 2010;107:9632-7 pubmed publisher
    Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD) most commonly through loss of protein expression...
  58. Vasquez I, Tan N, Boonyasampant M, Koppitch K, Lansman J. Partial opening and subconductance gating of mechanosensitive ion channels in dystrophic skeletal muscle. J Physiol. 2012;590:6167-85 pubmed publisher
    ..MS) ion channels in skeletal muscle from the mdx mouse, a deletion mutant that lacks the cytoskeletal protein, dystrophin. Experiments were designed to examine the influence of dystrophin, a major component of skeletal muscle ..
  59. Goyenvalle A, Babbs A, Wright J, Wilkins V, Powell D, Garcia L, et al. Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping. Hum Mol Genet. 2012;21:2559-71 pubmed publisher
    Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by mutations in the dystrophin gene that result in the absence of functional protein...
  60. Nakagaki W, Bertran C, Matsumura C, Santo Neto H, Camilli J. Mechanical, biochemical and morphometric alterations in the femur of mdx mice. Bone. 2011;48:372-9 pubmed publisher
    ..Mdx mice lack dystrophin and present cycles of muscle degeneration/regeneration that become more intense in the third week of life...
  61. Dahiya S, Bhatnagar S, Hindi S, Jiang C, Paul P, Kuang S, et al. Elevated levels of active matrix metalloproteinase-9 cause hypertrophy in skeletal muscle of normal and dystrophin-deficient mdx mice. Hum Mol Genet. 2011;20:4345-59 pubmed publisher
    ..In one-year-old mdx mice (a model for Duchenne muscular dystrophy, DMD), deletion of the Mmp9 gene reduced fiber hypertrophy and phosphorylation of Akt and p38 mitogen-activated protein ..
  62. Koenig X, Dysek S, Kimbacher S, Mike A, Cervenka R, Lukacs P, et al. Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart. PLoS ONE. 2011;6:e20300 pubmed publisher
    Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including cardiomyopathy and cardiac arrhythmias...
  63. Wheeler T, Leger A, Pandey S, MacLeod A, Nakamori M, Cheng S, et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature. 2012;488:111-5 pubmed publisher
    ..These results provide a general strategy to correct RNA gain-of-function effects and to modulate the expression of expanded repeats, lncRNAs and other transcripts with prolonged nuclear residence. ..
  64. Percival J, Whitehead N, Adams M, Adamo C, Beavo J, Froehner S. Sildenafil reduces respiratory muscle weakness and fibrosis in the mdx mouse model of Duchenne muscular dystrophy. J Pathol. 2012;228:77-87 pubmed publisher
    Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy caused by mutations in the dystrophin gene...
  65. Gawlik K, Oliveira B, Durbeej M. Transgenic expression of Laminin ?1 chain does not prevent muscle disease in the mdx mouse model for Duchenne muscular dystrophy. Am J Pathol. 2011;178:1728-37 pubmed publisher
    ..Increased expression of integrin ?7 is not beneficial for mdxLM?1 muscle, and components of the dystrophin-glycoprotein complex are not restored at the sarcolemma on laminin-111 overexpression...
  66. Goonasekera S, Lam C, Millay D, Sargent M, Hajjar R, Kranias E, et al. Mitigation of muscular dystrophy in mice by SERCA overexpression in skeletal muscle. J Clin Invest. 2011;121:1044-52 pubmed publisher
    ..The primary defect common to most MDs involves disruption of the dystrophin-glycoprotein complex (DGC). This leads to sarcolemmal instability and Ca(2+) influx, inducing cellular necrosis...
  67. Thomas G, Ye J, De Nardi C, Monopoli A, Ongini E, Victor R. Treatment with a nitric oxide-donating NSAID alleviates functional muscle ischemia in the mouse model of Duchenne muscular dystrophy. PLoS ONE. 2012;7:e49350 pubmed publisher
    In patients with Duchenne muscular dystrophy (DMD) and the standard mdx mouse model of DMD, dystrophin deficiency causes loss of neuronal nitric oxide synthase (nNOS?) from the sarcolemma, producing functional ischemia when the muscles ..
  68. Verma M, Asakura Y, Hirai H, Watanabe S, Tastad C, Fong G, et al. Flt-1 haploinsufficiency ameliorates muscular dystrophy phenotype by developmentally increased vasculature in mdx mice. Hum Mol Genet. 2010;19:4145-59 pubmed publisher
    ..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 ..
  69. Selsby J, Morine K, Pendrak K, Barton E, Sweeney H. Rescue of dystrophic skeletal muscle by PGC-1? involves a fast to slow fiber type shift in the mdx mouse. PLoS ONE. 2012;7:e30063 pubmed publisher
    Increased utrophin expression is known to reduce pathology in dystrophin-deficient skeletal muscles. Transgenic over-expression of PGC-1? has been shown to increase levels of utrophin mRNA and improve the histology of mdx muscles...