I-TASSER: an Internet service for protein structure and function predictions.
Jmol: an open-source Java viewer for chemical structures in 3D.
MyDomains: allows generation of custom domain figures.
UMD - DMD: French database for mutations of the DMD gene identified in patients with dystrophinopathies in France.
Leiden Muscular Dystrophy: database for mutations of the DMD gene found in the literature and submitted directly.
HGMD: a comprehensive collection of germ-line mutations in nuclear genes that underlie or are associated with human inherited disease.
UMR CNRS 6026: our research unit between the CNRS and the University of Rennes 1 (FRANCE).
References
Aartsma-Rus A, Bremmer-Bout M, Janson AA, den Dunnen JT, van Ommen GJ, van Deutekom JC. 2002. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord 12 Suppl 1:S71-7 Go to Pubmed
Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ, den Dunnen JT. 2009. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Human mutation 30:293-9 Go to Pubmed
Amann KJ, Guo AW, Ervasti JM. 1999. Utrophin lacks the rod domain actin binding activity of dystrophin. The Journal of biological chemistry 274:35375-80.Go to Pubmed
Arnett AL, Chamberlain JR, Chamberlain JS. 2009. Therapy for neuromuscular disorders. Current opinion in genetics & development 19:290-7. Go to Pubmed
Ayalon G, Davis JQ, Scotland PB, Bennett V. 2008. An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan. Cell 135:1189-200.Go to Pubmed
Banuelos S, Saraste M, Djinovic Carugo K. 1998. Structural comparisons of calponin homology domains: implications for actin binding. Structure 6:1419-31 Go to Pubmed
Batchelor CL, Winder SJ. 2006. Sparks, signals and shock absorbers: how dystrophin loss causes muscular dystrophy. Trends in cell biology 16:198-205 Go to Pubmed
Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM. 1991. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. American journal of human genetics 49:54-67 Go to Pubmed
Bellayou H, Hamzi K, Rafai MA, Karkouri M, Slassi I, Azeddoug H, Nadifi S. 2009. Duchenne and Becker muscular dystrophy: contribution of a molecular and immunohistochemical analysis in diagnosis in Morocco. Journal of biomedicine & biotechnology 2009:325210 Go to Pubmed
Beroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P and others. 2007. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Human mutation 28:196-202 Go to Pubmed
Bhosle RC, Michele DE, Campbell KP, Li Z, Robson RM. 2006. Interactions of intermediate filament protein synemin with dystrophin and utrophin. Biochemical and biophysical research communications 346:768-77 Go to Pubmed
Byers TJ, Lidov HG, Kunkel LM. 1993. An alternative dystrophin transcript specific to peripheral nerve. Nature genetics 4:77-81 Go to Pubmed
Blake DJ, Tinsley JM, Davies KE, Knight AE, Winder SJ, Kendrick-Jones J. 1995. Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions. Trends in biochemical sciences 20:133-5 Go to Pubmed
Blake DJ, Weir A, Newey SE, Davies KE. 2002. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiological reviews 82:291-329 Go to Pubmed
Buzin CH, Feng J, Yan J, Scaringe W, Liu Q, den Dunnen J, Mendell JR, Sommer SS. 2005. Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. Human mutation 25:177-88 Go to Pubmed
Carsana A, Frisso G, Tremolaterra MR, Lanzillo R, Vitale DF, Santoro L, Salvatore F. 2005. Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity. Annals of human genetics 69:253-9 Go to Pubmed
Chelly J, Hamard G, Koulakoff A, Kaplan JC, Kahn A, Berwald-Netter Y. 1990. Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature 344:64-5 Go to Pubmed
Comi GP, Prelle A, Bresolin N, Moggio M, Bardoni A, Gallanti A, Vita G, Toscano A, Ferro MT, Bordoni A and others. 1994. Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain 117 ( Pt 1):1-14 Go to Pubmed
D'Souza VN, Nguyen TM, Morris GE, Karges W, Pillers DA, Ray PN. 1995. A novel dystrophin isoform is required for normal retinal electrophysiology. Human molecular genetics 4:837-42 Go to Pubmed
Dent KM, Dunn DM, von Niederhausern AC, Aoyagi AT, Kerr L, Bromberg MB, Hart KJ, Tuohy T, White S, den Dunnen JT and others. 2005. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A 134:295-8 Go to Pubmed
Fajkusova L, Lukas Z, Tvrdikova M, Kuhrova V, Hajek J, Fajkus J. 2001. Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation. Neuromuscul Disord 11:133-8 Go to Pubmed
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM and others. 2009. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Human mutation 30:1657-1666 Go to Pubmed
Goyenvalle A, Babbs A, Powell D, Kole R, Fletcher S, Wilton SD, Davies KE. 2010. Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping. Mol Ther 18:198-205 Go to Pubmed
Goyenvalle A, Vulin A, Fougerousse F, Leturcq F, Kaplan JC, Garcia L, Danos O. 2004. Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science (New York, N.Y 306:1796-9 Go to Pubmed
Gregorevic P, Allen JM, Minami E, Blankinship MJ, Haraguchi M, Meuse L, Finn E, Adams ME, Froehner SC, Murry CE and others. 2006. rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice. Nature medicine 12:787-9 Go to Pubmed
Hnia K, Zouiten D, Cantel S, Chazalette D, Hugon G, Fehrentz JA, Masmoudi A, Diment A, Bramham J, Mornet D and others. 2007. ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site. The Biochemical journal 401:667-77 Go to Pubmed
Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ and others. 2004. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Human mutation 23:57-66 Go to Pubmed
Hogan A, Shepherd L, Chabot J, Quenneville S, Prescott SM, Topham MK, Gee SH. 2001. Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions. The Journal of biological chemistry 276:26526-33 Go to Pubmed
Huang X, Poy F, Zhang R, Joachimiak A, Sudol M, Eck MJ. 2000. Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan. Nature structural biology 7:634-8 Go to Pubmed
Hugnot JP, Gilgenkrantz H, Vincent N, Chafey P, Morris GE, Monaco AP, Berwald-Netter Y, Koulakoff A, Kaplan JC, Kahn A and others. 1992. Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. Proceedings of the National Academy of Sciences of the United States of America 89:7506-10 Go to Pubmed
Ishikawa-Sakurai M, Yoshida M, Imamura M, Davies KE, Ozawa E. 2004. ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan. Human molecular genetics 13:693-702 Go to Pubmed
Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. 2005. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6:29-35 Go to Pubmed
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Muller CR, Lindlof M, Kaariainen H and others. 1989. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. American journal of human genetics 45:498-506 Go to Pubmed
Koenig M, Kunkel LM. 1990. Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. The Journal of biological chemistry 265:4560-6 Go to Pubmed
Lai Y, Thomas GD, Yue Y, Yang HT, Li D, Long C, Judge L, Bostick B, Chamberlain JS, Terjung RL and others. 2009. Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. The Journal of clinical investigation 119:624-35 Go to Pubmed
Le Rumeur E, Winder SJ, Hubert JF. 2010. Dystrophin: More than just the sum of its parts. Biochimica et biophysica acta 1804:1713-22 Go to Pubmed
Legardinier S, Hubert JF, Le Bihan O, Tascon C, Rocher C, Raguenes-Nicol C, Bondon A, Hardy S, Le Rumeur E. 2008. Sub-domains of the dystrophin rod domain display contrasting lipid-binding and stability properties. Biochimica et biophysica acta 1784:672-82 Go to Pubmed
Legrand B, Giudice E, Nicolas A, Delalande O, Le Rumeur E. 2011. Computational study of the human dystrophin repeats: interaction properties and molecular dynamics. PloS one 6:e23819 Go to Pubmed
Lidov HG, Selig S, Kunkel LM. 1995. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Human molecular genetics 4:329-35 Go to Pubmed
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. 1988. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2:90-5 Go to Pubmed
Morandi L, Mora M, Confalonieri V, Barresi R, Di Blasi C, Brugnoni R, Bernasconi P, Mantegazza R, Dworzak F, Antozzi C and others. 1995. Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype. Journal of the neurological sciences 132:146-55 Go to Pubmed
Muntoni F, Torelli S, Ferlini A. 2003. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet neurology 2:731-40 Go to Pubmed
Nevo Y, Muntoni F, Sewry C, Legum C, Kutai M, Harel S, Dubowitz V. 2003. Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. Isr Med Assoc J 5:94-7 Go to Pubmed
Newey SE, Benson MA, Ponting CP, Davies KE, Blake DJ. 2000. Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex. Curr Biol 10:1295-8 Go to Pubmed
Nishio H, Takeshima Y, Narita N, Yanagawa H, Suzuki Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M. 1994. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter. The Journal of clinical investigation 94:1037-42 Go to Pubmed
Norwood FL, Sutherland-Smith AJ, Keep NH, Kendrick-Jones J. 2000. The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy. Structure 8:481-91 Go to Pubmed
Prior TW, Bridgeman SJ. 2005. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 7:317-26 Go to Pubmed
Ramelli GP, Joncourt F, Luetschg J, Weis J, Tolnay M, Burgunder JM. 2006. Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series. Swiss Med Wkly 136:189-93 Go to Pubmed
Reynolds JG, McCalmon SA, Donaghey JA, Naya FJ. 2008. Deregulated protein kinase A signaling and myospryn expression in muscular dystrophy. The Journal of biological chemistry 283:8070-4 Go to Pubmed
Rezniczek GA, Konieczny P, Nikolic B, Reipert S, Schneller D, Abrahamsberg C, Davies KE, Winder SJ, Wiche G. 2007. Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. The Journal of cell biology 176:965-77 Go to Pubmed
Sadoulet-Puccio HM, Kunkel LM. 1996. Dystrophin and its isoforms. Brain pathology (Zurich, Switzerland) 6:25-35 Go to Pubmed
Stone MR, O'Neill A, Catino D, Bloch RJ. 2005. Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19. Molecular biology of the cell 16:4280-93 Go to Pubmed
Sudol M. 1996. Structure and function of the WW domain. Progress in biophysics and molecular biology 65:113-32 Go to Pubmed
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prosper-Gutierrez B, De La Puente-Alonso F and others. 2007. Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. Journal of medical genetics 44:368-72 Go to Pubmed
Tsukamoto H, Inui K, Fukushima H, Nishigaki T, Taniike M, Tanaka J, Okada S. 1991. Molecular study of Duchenne and Becker muscular dystrophies in Japanese. Journal of inherited metabolic disease 14:819-24 Go to Pubmed
Tuffery-Giraud S, Beroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossee M, Boisseau P and others. 2009. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Human mutation 30:934-45 Go to Pubmed
Vie V, Legardinier S, Chieze L, Le Bihan O, Qin Y, Sarkis J, Hubert JF, Renault A, Desbat B, Le Rumeur E. 2010. Specific anchoring modes of two distinct dystrophin rod sub-domains interacting in phospholipid Langmuir films studied by atomic force microscopy and PM-IRRAS. Biochimica et biophysica acta 1798:1503-11 Go to Pubmed
Wilton SD, Fletcher S. 2008. Exon skipping and Duchenne muscular dystrophy: hope, hype and how feasible? Neurology India 56:254-62 Go to Pubmed
Winder SJ, Gibson TJ, Kendrick-Jones J. 1995. Dystrophin and utrophin: the missing links! FEBS letters 369:27-33 Go to Pubmed
Yamashita K, Suzuki A, Satoh Y, Ide M, Amano Y, Masuda-Hirata M, Hayashi YK, Hamada K, Ogata K, Ohno S. 2010. The 8th and 9th tandem spectrin-like repeats of utrophin cooperatively form a functional unit to interact with polarity-regulating kinase PAR-1b. Biochemical and biophysical research communications 391:812-7 Go to Pubmed