dystrophin

Summary

Summary: A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

Top Publications

  1. Willmann R, De Luca A, Benatar M, Grounds M, Dubach J, Raymackers J, et al. Enhancing translation: guidelines for standard pre-clinical experiments in mdx mice. Neuromuscul Disord. 2012;22:43-9 pubmed publisher
    ..The cause is the absence of dystrophin, a large structural protein indispensable for muscle cell function and viability...
  2. 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.
  3. Helderman van den Enden A, Madan K, Breuning M, van der Hout A, Bakker E, de Die Smulders C, et al. An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy. Eur J Hum Genet. 2013;21:21-6 pubmed publisher
    ..The first step would be to introduce neonatal screening of males. The next is to test females for carrier status if requested, prenatally if fetal DNA is available or postnatally even before adulthood. ..
  4. Kawahara G, Karpf J, Myers J, Alexander M, Guyon J, Kunkel L. Drug screening in a zebrafish model of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2011;108:5331-6 pubmed publisher
    Two known zebrafish dystrophin mutants, sapje and sapje-like (sap(c/100)), represent excellent small-animal models of human muscular dystrophy...
  5. Lai Y, Zhao J, Yue Y, Duan D. ?2 and ?3 helices of dystrophin R16 and R17 frame a microdomain in the ?1 helix of dystrophin R17 for neuronal NOS binding. Proc Natl Acad Sci U S A. 2013;110:525-30 pubmed publisher
    ..The underlying mechanism is poorly understood. Dystrophin contains 24 spectrin-like repeats...
  6. Berger J, Berger S, Jacoby A, Wilton S, Currie P. Evaluation of exon-skipping strategies for Duchenne muscular dystrophy utilizing dystrophin-deficient zebrafish. J Cell Mol Med. 2011;15:2643-51 pubmed publisher
    Duchenne muscular dystophy (DMD) is a severe muscle wasting disease caused by mutations in the dystrophin gene...
  7. Goyenvalle A, Wright J, Babbs A, Wilkins V, Garcia L, Davies K. Engineering multiple U7snRNA constructs to induce single and multiexon-skipping for Duchenne muscular dystrophy. Mol Ther. 2012;20:1212-21 pubmed publisher
    Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disorder caused by mutations in the dystrophin gene...
  8. Chun J, O Brien R, Berry S. Cardiac dysfunction and pathology in the dystrophin and utrophin-deficient mouse during development of dilated cardiomyopathy. Neuromuscul Disord. 2012;22:368-79 pubmed publisher
    ..We therefore examined cardiac function and pathology in mdx/utrn(-/-) dystrophin/utrophin-deficient mice...
  9. Flanigan K, Dunn D, von Niederhausern A, Soltanzadeh P, Howard M, Sampson J, et al. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat. 2011;32:299-308 pubmed publisher
    ..However, nonsense mutations in the DMD gene, encoding the dystrophin protein, have been associated with both the severe Duchenne Muscular Dystrophy (DMD) and milder Becker Muscular ..

More Information

Publications90

  1. Hoogaars W, Mouisel E, Pasternack A, Hulmi J, Relizani K, Schuelke M, et al. Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice. Hum Gene Ther. 2012;23:1269-79 pubmed publisher
    Adeno-associated virus (AAV)-U7-mediated skipping of dystrophin-exon-23 restores dystrophin expression and muscle function in the mdx mouse model of Duchenne muscular dystrophy...
  2. Wu B, Lu P, Cloer C, Shaban M, Grewal S, Milazi S, et al. Long-term rescue of dystrophin expression and improvement in muscle pathology and function in dystrophic mdx mice by peptide-conjugated morpholino. Am J Pathol. 2012;181:392-400 pubmed publisher
    ..Phase 2 clinical trials in the United Kingdom and the Netherlands have reported induction of dystrophin expression in muscle of Duchenne muscular dystrophy patients by systemic administration of both ..
  3. Duguez S, Duddy W, Johnston H, Laine J, Le Bihan M, Brown K, et al. Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion. Cell Mol Life Sci. 2013;70:2159-74 pubmed publisher
    Duchenne muscular dystrophy results from loss of the protein dystrophin, which links the intracellular cytoskeletal network with the extracellular matrix, but deficiency in this function does not fully explain the onset or progression of ..
  4. Spurney C, Guerron A, Yu Q, Sali A, van der Meulen J, Hoffman E, et al. Membrane sealant Poloxamer P188 protects against isoproterenol induced cardiomyopathy in dystrophin deficient mice. BMC Cardiovasc Disord. 2011;11:20 pubmed publisher
    Cardiomyopathy in Duchenne muscular dystrophy (DMD) is an increasing cause of death in patients. The absence of dystrophin leads to loss of membrane integrity, cell death and fibrosis in cardiac muscle...
  5. Singh S, Mallela K. The N-terminal actin-binding tandem calponin-homology (CH) domain of dystrophin is in a closed conformation in solution and when bound to F-actin. Biophys J. 2012;103:1970-8 pubmed publisher
    Deficiency of the vital muscle protein dystrophin triggers Duchenne/Becker muscular dystrophy, but the structure-function relationship of dystrophin is poorly understood...
  6. Johnson E, Zhang L, Adams M, Phillips A, Freitas M, Froehner S, et al. Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins. PLoS ONE. 2012;7:e43515 pubmed publisher
    Mutations affecting the expression of dystrophin result in progressive loss of skeletal muscle function and cardiomyopathy leading to early mortality...
  7. Xie S, Lan Z, Qu N, Wei X, Yu P, Zhu Q, et al. Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing. Gene. 2012;499:139-42 pubmed publisher
    b>Dystrophin (DMD) gene is the largest gene containing 79 exons involving various mutation types and regions, and targeted next-generation sequencing (NGS) was employed in detecting DMD gene mutation in the present study...
  8. Joe M, Kee C, Tomarev S. Myocilin interacts with syntrophins and is member of dystrophin-associated protein complex. J Biol Chem. 2012;287:13216-27 pubmed publisher
    ..We identified ?1-syntrophin, a component of the dystrophin-associated protein complex (DAPC), as a myocilin-binding candidate...
  9. Wehling Henricks M, Tidball J. Neuronal nitric oxide synthase-rescue of dystrophin/utrophin double knockout mice does not require nNOS localization to the cell membrane. PLoS ONE. 2011;6:e25071 pubmed publisher
    Survival of dystrophin/utrophin double-knockout (dko) mice was increased by muscle-specific expression of a neuronal nitric oxide synthase (nNOS) transgene...
  10. 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...
  11. Wu B, Benrashid E, Lu P, Cloer C, Zillmer A, Shaban M, et al. Targeted skipping of human dystrophin exons in transgenic mouse model systemically for antisense drug development. PLoS ONE. 2011;6:e19906 pubmed publisher
    ..therapy has recently been demonstrated with great potential for targeted exon skipping and restoration of dystrophin production in cultured muscle cells and in muscles of Duchenne Muscular Dystrophy (DMD) patients...
  12. Fine D, Shin J, Yue Y, Volkmann D, Leach S, Smith B, et al. Age-matched comparison reveals early electrocardiography and echocardiography changes in dystrophin-deficient dogs. Neuromuscul Disord. 2011;21:453-61 pubmed publisher
    The absence of dystrophin in the heart leads to Duchenne cardiomyopathy. Dystrophin-deficient dogs represent a critical model to translate novel therapies developed in mice to humans...
  13. 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...
  14. Koo T, Wood M. Clinical trials using antisense oligonucleotides in duchenne muscular dystrophy. Hum Gene Ther. 2013;24:479-88 pubmed publisher
    ..Complete loss of muscle dystrophin protein causes progressive muscle weakness and heart and respiratory failure, leading to premature death...
  15. Delfin D, Xu Y, Peterson J, Guttridge D, Rafael Fortney J, Janssen P. Improvement of cardiac contractile function by peptide-based inhibition of NF-?B in the utrophin/dystrophin-deficient murine model of muscular dystrophy. J Transl Med. 2011;9:68 pubmed publisher
    ..reduces inflammation, enhances myofiber regeneration, and improves contractile deficits in the diaphragm in dystrophin-deficient mdx mice...
  16. 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...
  17. Chan S, Head S. The role of branched fibres in the pathogenesis of Duchenne muscular dystrophy. Exp Physiol. 2011;96:564-71 pubmed publisher
    ..DMD), a severe condition of progressive muscle wasting caused by an absence of the sarcolemmal protein dystrophin, and in the muscles of the mdx mouse, an animal model of DMD...
  18. Moulton H. Cell-penetrating peptides enhance systemic delivery of antisense morpholino oligomers. Methods Mol Biol. 2012;867:407-14 pubmed publisher
    ..The improved efficacy has been demonstrated in DMD animal models, including mdx mice and utrophin-dystrophin double-knockout mice...
  19. Shin J, Yue Y, Srivastava A, Smith B, Lai Y, Duan D. A simplified immune suppression scheme leads to persistent micro-dystrophin expression in Duchenne muscular dystrophy dogs. Hum Gene Ther. 2012;23:202-9 pubmed publisher
    Highly abbreviated micro-dystrophin genes have been intensively studied for Duchenne muscular dystrophy (DMD) gene therapy...
  20. Spurney C, Sali A, Guerron A, Iantorno M, Yu Q, Gordish Dressman H, et al. Losartan decreases cardiac muscle fibrosis and improves cardiac function in dystrophin-deficient mdx mice. J Cardiovasc Pharmacol Ther. 2011;16:87-95 pubmed publisher
    ..administration of losartan, an angiotensin II type I receptor antagonist, improved skeletal muscle function in dystrophin-deficient mdx mice...
  21. Gray S, McGee Lawrence M, SANDERS J, Condon K, Tsai C, Donahue S. Black bear parathyroid hormone has greater anabolic effects on trabecular bone in dystrophin-deficient mice than in wild type mice. Bone. 2012;51:578-85 pubmed publisher
    ..The dystrophin-deficient mdx mouse is a model of DMD that demonstrates muscle degeneration and fibrosis and osteoporosis...
  22. Vulin A, Barthélémy I, Goyenvalle A, Thibaud J, Beley C, Griffith G, et al. Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping. Mol Ther. 2012;20:2120-33 pubmed publisher
    Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder resulting from lesions of the gene encoding dystrophin. These usually consist of large genomic deletions, the extents of which are not correlated with the severity of the ..
  23. Belanto J, Mader T, Eckhoff M, Strandjord D, Banks G, Gardner M, et al. Microtubule binding distinguishes dystrophin from utrophin. Proc Natl Acad Sci U S A. 2014;111:5723-8 pubmed publisher
    b>Dystrophin and utrophin are highly similar proteins that both link cortical actin filaments with a complex of sarcolemmal glycoproteins, yet localize to different subcellular domains within normal muscle cells...
  24. Henderson D, Belanto J, Li B, Heun Johnson H, Ervasti J. Internal deletion compromises the stability of dystrophin. Hum Mol Genet. 2011;20:2955-63 pubmed publisher
    Duchenne muscular dystrophy (DMD) is a deadly and common childhood disease caused by mutations that disrupt dystrophin protein expression...
  25. Gumerson J, Michele D. The dystrophin-glycoprotein complex in the prevention of muscle damage. J Biomed Biotechnol. 2011;2011:210797 pubmed publisher
    ..Previous work has focused on understanding how disruptions in the dystrophin-glycoprotein complex result in muscular dystrophy, supporting a hypothesis that the muscle sarcolemma is fragile ..
  26. Kuno A, Hori Y, Hosoda R, Tanno M, Miura T, Shimamoto K, et al. Resveratrol improves cardiomyopathy in dystrophin-deficient mice through SIRT1 protein-mediated modulation of p300 protein. J Biol Chem. 2013;288:5963-72 pubmed publisher
    ..deacetylase SIRT1, suppresses cardiac hypertrophy and fibrosis and restores cardiac diastolic function in dystrophin-deficient mdx mice...
  27. Tran V, Ta V, Vu D, Nguyen S, Do H, Ta M, et al. Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients. J Neurogenet. 2013;27:170-5 pubmed publisher
    ..Becker muscular dystrophies (DMD/BMD) are the most common inherited muscle diseases caused by mutations in the dystrophin gene. The reading frame rule explains the genotype-phenotype relationship in DMD/BMD...
  28. Sarkis J, Vié V, Winder S, Renault A, Le Rumeur E, Hubert J. Resisting sarcolemmal rupture: dystrophin repeats increase membrane-actin stiffness. FASEB J. 2013;27:359-67 pubmed publisher
    b>Dystrophin is an essential part of a membrane protein complex that provides flexible support to muscle fiber membranes. Loss of dystrophin function leads to membrane fragility and muscle-wasting disease...
  29. Suzuki H, Kameyama T, Ohe K, Tsukahara T, Mayeda A. Nested introns in an intron: evidence of multi-step splicing in a large intron of the human dystrophin pre-mRNA. FEBS Lett. 2013;587:555-61 pubmed publisher
    ..We analyzed large intron 7 (110199 nucleotides) generated from the human dystrophin (DMD) pre-mRNA by RT-PCR...
  30. Bish L, Sleeper M, Forbes S, Wang B, Reynolds C, Singletary G, et al. Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping. Mol Ther. 2012;20:580-9 pubmed publisher
    Although restoration of dystrophin expression via exon skipping in both cardiac and skeletal muscle has been successfully demonstrated in the mdx mouse, restoration of cardiac dystrophin expression in large animal models of Duchenne ..
  31. Seto J, Ramos J, Muir L, Chamberlain J, Odom G. Gene replacement therapies for duchenne muscular dystrophy using adeno-associated viral vectors. Curr Gene Ther. 2012;12:139-51 pubmed
    ..Both forms of dystrophy are caused by mutations in the dystrophin gene and all cases can in theory be treated by gene replacement using synthetic forms of the dystrophin gene...
  32. Arpke R, Darabi R, Mader T, Zhang Y, Toyama A, Lonetree C, et al. A new immuno-, dystrophin-deficient model, the NSG-mdx(4Cv) mouse, provides evidence for functional improvement following allogeneic satellite cell transplantation. Stem Cells. 2013;31:1611-20 pubmed publisher
    ..These studies highlight the potency of satellite cells to improve muscle function and the utility of the NSG-mdx(4Cv) model for studies on muscle regeneration and Duchenne muscular dystrophy therapy. ..
  33. 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...
  34. 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...
  35. Spassov A, Gredes T, Gedrange T, Lucke S, Pavlovic D, Kunert Keil C. The expression of myogenic regulatory factors and muscle growth factors in the masticatory muscles of dystrophin-deficient (mdx) mice. Cell Mol Biol Lett. 2011;16:214-25 pubmed publisher
    ..The finding of gender-related differences in the mRNA expression of the examined factors may indicate the importance of hormonal influences on muscle regeneration. ..
  36. Wang Z, Storb R, Halbert C, Banks G, Butts T, Finn E, et al. Successful regional delivery and long-term expression of a dystrophin gene in canine muscular dystrophy: a preclinical model for human therapies. Mol Ther. 2012;20:1501-7 pubmed publisher
    Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle disease caused by mutations in the dystrophin gene. Adeno-associated viral (AAV) vector-mediated gene replacement strategies hold promise as a treatment...
  37. Darabi R, Arpke R, Irion S, Dimos J, Grskovic M, Kyba M, et al. Human ES- and iPS-derived myogenic progenitors restore DYSTROPHIN and improve contractility upon transplantation in dystrophic mice. Cell Stem Cell. 2012;10:610-9 pubmed publisher
    ..upon transplantation into dystrophic muscle, are able to engraft efficiently, producing abundant human-derived DYSTROPHIN-positive myofibers that exhibit superior strength...
  38. Masubuchi N, Shidoh Y, Kondo S, Takatoh J, Hanaoka K. Subcellular localization of dystrophin isoforms in cardiomyocytes and phenotypic analysis of dystrophin-deficient mice reveal cardiac myopathy is predominantly caused by a deficiency in full-length dystrophin. Exp Anim. 2013;62:211-7 pubmed
    ..b>Dystrophin, the gene responsible for DMD, encodes full-length dystrophin and various short dystrophin isoforms...
  39. Yokota T, Duddy W, Echigoya Y, Kolski H. Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?. Expert Opin Biol Ther. 2012;12:1141-52 pubmed publisher
    ..muscular dystrophy (DMD), one of the most common and lethal genetic disorders, is caused by mutations of the dystrophin gene...
  40. Kemaladewi D, Hoogaars W, van Heiningen S, Terlouw S, de Gorter D, den Dunnen J, et al. Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy. BMC Med Genomics. 2011;4:36 pubmed publisher
    ..by means of exon skipping, a technique which has been successfully applied to reframe the genetic defect of dystrophin gene in DMD patients...
  41. Taylor L, Kaminoh Y, Rodesch C, Flanigan K. Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens. Neuropathol Appl Neurobiol. 2012;38:591-601 pubmed publisher
    Duchenne muscular dystrophy (DMD) is usually associated with absent or nearly absent dystrophin expression at the sarcolemmal membrane...
  42. Koo T, Malerba A, Athanasopoulos T, Trollet C, Boldrin L, Ferry A, et al. Delivery of AAV2/9-microdystrophin genes incorporating helix 1 of the coiled-coil motif in the C-terminal domain of dystrophin improves muscle pathology and restores the level of ?1-syntrophin and ?-dystrobrevin in skeletal muscles of mdx mice. Hum Gene Ther. 2011;22:1379-88 pubmed publisher
    Duchenne muscular dystrophy is a severe X-linked inherited muscle wasting disorder caused by mutations in the dystrophin gene...
  43. Acsadi G, Moore S, Chéron A, Delalande O, Bennett L, Kupsky W, et al. Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy. J Biol Chem. 2012;287:18153-62 pubmed publisher
    Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish...
  44. Yang H, Ieronimakis N, Tsui J, Kim H, Suh K, Reyes M, et al. Nanopatterned muscle cell patches for enhanced myogenesis and dystrophin expression in a mouse model of muscular dystrophy. Biomaterials. 2014;35:1478-86 pubmed publisher
    ..muscular dystrophy (DMD), the proposed muscle patches led to the formation of a significantly greater number of dystrophin-positive muscle fibers, indicating that dystrophin replacement and myogenesis is achievable in vivo with this ..
  45. Licursi V, Caiello I, Lombardi L, De Stefano M, Negri R, Paggi P. Lack of dystrophin in mdx mice modulates the expression of genes involved in neuron survival and differentiation. Eur J Neurosci. 2012;35:691-701 pubmed publisher
    ..The main aim was to verify whether the lack of dystrophin affected the transcript levels of genes related to different aspects of neuron development and differentiation...
  46. Bowles D, McPhee S, Li C, Gray S, Samulski J, Camp A, et al. Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector. Mol Ther. 2012;20:443-55 pubmed publisher
    ..g., limb infusion gene delivery) and should usher in the next generation of viral delivery systems for human gene transfer. ..
  47. Diegoli M, Grasso M, Favalli V, Serio A, Gambarin F, Klersy C, et al. Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol. 2011;58:925-34 pubmed publisher
    ..the diagnostic work-up, phenotype, and long-term evolution of dilated cardiomyopathy (DCM) associated with Dystrophin (DYS) defects...
  48. Constantin B. Dystrophin complex functions as a scaffold for signalling proteins. Biochim Biophys Acta. 2014;1838:635-42 pubmed publisher
    b>Dystrophin is a 427kDa sub-membrane cytoskeletal protein, associated with the inner surface membrane and incorporated in a large macromolecular complex of proteins, the dystrophin-associated protein complex (DAPC)...
  49. 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
    ..Our findings demonstrate the substantial potential for MOE PS AOs as an alternative option for the treatment of DMD. ..
  50. Sahni N, Mangat K, Le Rumeur E, Menhart N. Exon edited dystrophin rods in the hinge 3 region. Biochim Biophys Acta. 2012;1824:1080-9 pubmed publisher
    ..of envisioned exon skipping therapy by antisense oligonucleotides, AONs, directed at exon 51 applied to relevant dystrophin defects causing Duchenne muscular dystrophy, DMD...
  51. Gehrig S, van der Poel C, Hoeflich A, Naim T, Lynch G, Metzger F. Therapeutic potential of PEGylated insulin-like growth factor I for skeletal muscle disease evaluated in two murine models of muscular dystrophy. Growth Horm IGF Res. 2012;22:69-75 pubmed publisher
    ..We used mdx mice which lack dystrophin (as in DMD) but exhibit only a relatively mild phenotype, and the dko mouse which is a transgenic model lacking ..
  52. Cirak S, Feng L, Anthony K, Arechavala Gomeza V, Torelli S, Sewry C, et al. Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. Mol Ther. 2012;20:462-7 pubmed publisher
    ..patients using the morpholino splice-switching oligonucleotide AVI-4658 (eteplirsen) that induces skipping of dystrophin exon 51 in patients with relevant deletions, restores the open reading frame and induces dystrophin protein ..
  53. Vieira N, Valadares M, Zucconi E, Secco M, Bueno C, Brandalise V, et al. Human adipose-derived mesenchymal stromal cells injected systemically into GRMD dogs without immunosuppression are able to reach the host muscle and express human dystrophin. Cell Transplant. 2012;21:1407-17 pubmed publisher
    ..Mutations in the DMD gene lead to the absence of muscle dystrophin and a progressive degeneration of skeletal muscle...
  54. Tadayoni R, Rendon A, Soria Jasso L, Cisneros B. Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene. Mol Neurobiol. 2012;45:43-60 pubmed publisher
    b>Dystrophin Dp71 is expressed in all tissues, with the exception of skeletal muscle, and is the main Duchenne muscular dystrophy (DMD) gene product in brain...
  55. Schmidt W, Uddin M, Dysek S, Moser Thier K, Pirker C, Hoger H, et al. DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies. PLoS Genet. 2011;7:e1002042 pubmed publisher
    ..Combined loss of dystrophin and dysferlin, as well as dystrophin and calpain-3, leads to accelerated tumor formation...
  56. Hoffman E, Bronson A, Levin A, Takeda S, Yokota T, Baudy A, et al. Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through. Am J Pathol. 2011;179:12-22 pubmed publisher
    ..Both approaches are in human clinical trials and aim to coax dystrophin protein production from otherwise inactive mutant genes...
  57. Hoffman E, Connor E. Orphan drug development in muscular dystrophy: update on two large clinical trials of dystrophin rescue therapies. Discov Med. 2013;16:233-9 pubmed
    ..The responsible gene and deficient protein (dystrophin) were identified in 1987, an early success of human molecular genetics and emerging genome projects...
  58. Berry S, Andruszkiewicz P, Chun J, Hong J. Nestin expression in end-stage disease in dystrophin-deficient heart: implications for regeneration from endogenous cardiac stem cells. Stem Cells Transl Med. 2013;2:848-61 pubmed publisher
    ..We examined nestin(+) stem cells in the myocardium of dystrophin/utrophin-deficient (mdx/utrn(-/-)) mice, a model for DMD...
  59. 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...
  60. van Putten M, Hulsker M, Nadarajah V, van Heiningen S, van Huizen E, van Iterson M, et al. The effects of low levels of dystrophin on mouse muscle function and pathology. PLoS ONE. 2012;7:e31937 pubmed publisher
    ..disorder caused by reading frame disrupting mutations in the DMD gene, preventing the synthesis of functional dystrophin. As dystrophin provides muscle fiber stability during contractions, dystrophin negative fibers are prone to ..
  61. Sabourin J, Harisseh R, Harnois T, Magaud C, Bourmeyster N, Déliot N, et al. Dystrophin/?1-syntrophin scaffold regulated PLC/PKC-dependent store-operated calcium entry in myotubes. Cell Calcium. 2012;52:445-56 pubmed publisher
    ..from patient suffering of Duchenne Muscular Dystrophy and from mdx mice, the absence of the cytoskeleton protein dystrophin has been shown to be essential for maintaining a normal calcium influx...
  62. García Pelagio K, Bloch R, Ortega A, Gonzalez Serratos H. Biomechanics of the sarcolemma and costameres in single skeletal muscle fibers from normal and dystrophin-null mice. J Muscle Res Cell Motil. 2011;31:323-36 pubmed publisher
    ..apparatus in single mammalian myofibers of Extensor digitorum longus muscles isolated from wild (WT) and dystrophin-null (mdx) mice...
  63. Hosur V, Kavirayani A, Riefler J, Carney L, Lyons B, Gott B, et al. Dystrophin and dysferlin double mutant mice: a novel model for rhabdomyosarcoma. Cancer Genet. 2012;205:232-41 pubmed publisher
    ..a link between muscular dystrophy (MD) and sarcomas in human patients, literature suggests that the MD genes dystrophin and dysferlin act as tumor suppressor genes in mouse models of MD...
  64. Legrand B, Giudice E, Nicolas A, Delalande O, Le Rumeur E. Computational study of the human dystrophin repeats: interaction properties and molecular dynamics. PLoS ONE. 2011;6:e23819 pubmed publisher
    b>Dystrophin is a large protein involved in the rare genetic disease Duchenne muscular dystrophy (DMD)...
  65. Eom Y, Lee J, Yang M, Jang I, Kim H, Lee D, et al. Effective myotube formation in human adipose tissue-derived stem cells expressing dystrophin and myosin heavy chain by cellular fusion with mouse C2C12 myoblasts. Biochem Biophys Res Commun. 2011;408:167-73 pubmed publisher
    ..b>Dystrophin and myosin heavy chain (MyHC) expression was induced by hASC conditioned medium in the late differentiation step...
  66. 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...
  67. Nonneman D, Brown Brandl T, Jones S, Wiedmann R, Rohrer G. A defect in dystrophin causes a novel porcine stress syndrome. BMC Genomics. 2012;13:233 pubmed publisher
    ..1-27.7 Mb over the dystrophin gene (DMD), was significantly associated with the syndrome...
  68. Flanigan K, Campbell K, Viollet L, Wang W, Gomez A, Walker C, et al. Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect. Hum Gene Ther. 2013;24:797-806 pubmed publisher
    ..typically occurs as a result of truncating mutations in the DMD gene that result in a lack of expression of the dystrophin protein in muscle fibers...
  69. Henderson D, LIN A, Thomas D, Ervasti J. The carboxy-terminal third of dystrophin enhances actin binding activity. J Mol Biol. 2012;416:414-24 pubmed publisher
    b>Dystrophin is an actin binding protein that is thought to stabilize the cardiac and skeletal muscle cell membranes during contraction. Here, we investigated the contributions of each dystrophin domain to actin binding function...
  70. Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala Gomeza V, et al. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain. 2011;134:3547-59 pubmed publisher
    ..in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using ..
  71. 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 ..
  72. Nguyen A, Xiao B, Neppl R, Kallin E, Li J, Chen T, et al. DOT1L regulates dystrophin expression and is critical for cardiac function. Genes Dev. 2011;25:263-74 pubmed publisher
    ..Mechanistic studies reveal that DOT1L performs its function in cardiomyocytes through regulating Dystrophin (Dmd) transcription and, consequently, stability of the Dystrophin-glycoprotein complex important for ..
  73. Miyazaki D, Nakamura A, Fukushima K, Yoshida K, Takeda S, Ikeda S. Matrix metalloproteinase-2 ablation in dystrophin-deficient mdx muscles reduces angiogenesis resulting in impaired growth of regenerated muscle fibers. Hum Mol Genet. 2011;20:1787-99 pubmed publisher
    ..muscles in the lethal X-linked muscle disorder Duchenne muscular dystrophy (DMD), which is caused by loss of dystrophin. A recent study showed that deletion of the MMP9 gene in mdx, a mouse model for DMD, improved skeletal muscle ..
  74. Juan Mateu J, Rodriguez M, Nascimento A, Jimenez Mallebrera C, González Quereda L, Rivas E, et al. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy. Orphanet J Rare Dis. 2012;7:82 pubmed publisher
    ..However, the assessment of XCI by means of the AR methylation assay has a poor prognostic value, probably because the methylation status of the AR gene in muscle may not reflect in all cases the methylation status of the DMD gene. ..
  75. 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...
  76. Zhang Y, Duan D. Novel mini-dystrophin gene dual adeno-associated virus vectors restore neuronal nitric oxide synthase expression at the sarcolemma. Hum Gene Ther. 2012;23:98-103 pubmed publisher
    Six- to 8-kb mini-dystrophin genes are promising candidates for Duchenne muscular dystrophy (DMD) gene therapy. Several dual adeno-associated virus (AAV) mini-dystrophin vectors have been tested in dystrophin-deficient mice...
  77. Ousterout D, Perez Pinera P, Thakore P, Kabadi A, Brown M, Qin X, et al. Reading frame correction by targeted genome editing restores dystrophin expression in cells from Duchenne muscular dystrophy patients. Mol Ther. 2013;21:1718-26 pubmed publisher
    ..without a repair template, can efficiently correct the reading frame and restore the expression of a functional dystrophin protein that is mutated in DMD...
  78. Pinheiro C, de Queiroz J, Guimarães Ferreira L, Vitzel K, Nachbar R, de Sousa L, et al. Local injections of adipose-derived mesenchymal stem cells modulate inflammation and increase angiogenesis ameliorating the dystrophic phenotype in dystrophin-deficient skeletal muscle. Stem Cell Rev. 2012;8:363-74 pubmed publisher
    ..cells (ADMSC) transplantation on degeneration, regeneration and skeletal muscle function were investigated in dystrophin-deficient mice (24-week-old). ADMSC transplantation improved muscle strength and, resistance to fatigue...
  79. Delfin D, Zang K, Schill K, Patel N, Janssen P, Raman S, et al. Cardiomyopathy in the dystrophin/utrophin-deficient mouse model of severe muscular dystrophy is characterized by dysregulation of matrix metalloproteinases. Neuromuscul Disord. 2012;22:1006-14 pubmed publisher
    Cardiomyopathy is a significant component in Duchenne muscular dystrophy. Although mdx mice are deficient in dystrophin, they only develop mild indicators of cardiomyopathy before 1year-of-age, making therapeutic investigations using this ..
  80. Gardan Salmon D, Dixon J, Lonergan S, Selsby J. Proteomic assessment of the acute phase of dystrophin deficiency in mdx mice. Eur J Appl Physiol. 2011;111:2763-73 pubmed publisher
    Duchenne muscular dystrophy (DMD) is caused by the absence of a functional dystrophin protein and is modeled by the mdx mouse. The mdx mouse suffers an early necrotic bout in the hind limb muscles lasting from approximately 4 to 7 weeks...
  81. Bovolenta M, Erriquez D, Valli E, Brioschi S, Scotton C, Neri M, et al. The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms. PLoS ONE. 2012;7:e45328 pubmed publisher
    The 2.2 Mb long dystrophin (DMD) gene, the largest gene in the human genome, corresponds to roughly 0.1% of the entire human DNA sequence...