Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ, et al. (1994) Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 3: 1287-1295.
Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, et al. (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2: 26-30 doi:10.1038/ng0992-26.
Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M (2011) Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Hum Genet. Available:http://www.ncbi.nlm.nih.gov/pubmed/21984394. Accessed 19 December 2011.
van Overveld PGM, Lemmers RJFL, Sandkuijl LA, Enthoven L, Winokur ST, et al. (2003) Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 35: 315-317 doi:10.1038/ng1262.
Petrov A, Pirozhkova I, Carnac G, Laoudj D, Lipinski M, et al. (2006) Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci USA 103: 6982-6987 doi:10.1073/pnas.0511235103.
Cabianca DS, Casa V, Bodega B, Xynos A, Ginelli E, et al. (2012) A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy. Cell 149: 819-831.
Laoudj-Chenivesse D, Carnac G, Bisbal C, Hugon G, Bouillot S, et al. (2005) Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med 83: 216-224 doi:10.1007/s00109-004-0583-7.
Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, et al. (2006) Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 439: 973-977 doi:10.1038/nature04422.
Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJLF, et al. (2004) FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet 41: 826-836 doi:10.1136/jmg.2004.019364.
Ansseau E, Laoudj-Chenivesse D, Marcowycz A, Tassin A, Vanderplanck C, et al. (2009) DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS ONE 4: e7482 doi:10.1371/journal.pone.0007482.
Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, et al. (1999) Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 236: 25-32.
Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, et al. (2007) DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci USA 104: 18157-18162 doi:10.1073/pnas.0708659104.
Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, et al. (2010) A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 329: 1650-1653 doi:10.1126/science.1189044.
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, et al. (2009) RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet 18: 2414-2430 doi:10.1093/hmg/ddp180.
Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, et al. (2010) Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet 6: e1001181 doi:10.1371/journal.pgen.1001181.
Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, et al. (2007) The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 17: 611-623 doi:10.1016/j.nmd.2007.04.002.
Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, et al. (2008) An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J 27: 2766-2779 doi:10.1038/emboj.2008.201.
Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, et al. (2011) DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol 69: 540-552 doi:10.1002/ana.22275.
Geng LN, Yao Z, Snider L, Fong AP, Cech JN, et al. (2012) DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell 22: 38-51 doi:10.1016/j.devcel.2011.11.013.
Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, et al. (2011) The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression. PLoS ONE 6: e26820 doi:10.1371/journal.pone.0026820.
Tupler R, Perini G, Pellegrino MA, Green MR, (1999) Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. Proc Natl Acad Sci USA 96: 12650-12654.
Winokur ST, Chen Y-W, Masny PS, Martin JH, Ehmsen JT, et al. (2003) Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet 12: 2895-2907 doi:10.1093/hmg/ddg327.
Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R, (2007) Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 68: 569-577 doi:10.1212/01.wnl.0000251269.31442.d9.
Arashiro P, Eisenberg I, Kho AT, Cerqueira AMP, Canovas M, et al. (2009) Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proc Natl Acad Sci USA 106: 6220-6225 doi:10.1073/pnas.0901573106.
Celegato B, Capitanio D, Pescatori M, Romualdi C, Pacchioni B, et al. (2006) Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics 6: 5303-5321 doi:10.1002/pmic.200600056.
Tsumagari K, Chang S-C, Lacey M, Baribault C, Chittur SV, et al. (2011) Gene expression during normal and FSHD myogenesis. BMC Med Genomics 4: 67 doi:10.1186/1755-8794-4-67.
Barro M, Carnac G, Flavier S, Mercier J, Vassetzky Y, et al. (2010) Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects. J Cell Mol Med 14: 275-289 doi:10.1111/j.1582-4934.2008.00368.x.
Cheli S, François S, Bodega B, Ferrari F, Tenedini E, et al. (2011) Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns. PLoS ONE 6: e20966 doi:10.1371/journal.pone.0020966.
Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, et al. (2007) Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci USA 104: 17016-17021 doi:10.1073/pnas.0708115104.
Tassin A, Laoudj-Chenivesse D, Vanderplanck C, Barro M, Charron S, et al. (2012) DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? J Cell Mol Med. In press.
Dmitriev PV, Barat AL, Cochet E, Ogryzko VV, Laoudj-Chenivesse D, et al. (2011) FSHD myoblasts fail to downregulate intermediate filament protein vimentin during myogenic differentiation. Biopolymers and Cell. Available:http://www.doaj.org/doaj?func=abstract&id=867355. Accessed 2012 Mar 25.
Dzijak R, Yildirim S, Kahle M, Novák P, Hnilicová J, et al. (2012) Specific nuclear localizing sequence directs two myosin isoforms to the cell nucleus in calmodulin-sensitive manner. PLoS ONE 7: e30529 doi:10.1371/journal.pone.0030529.
Chen M, Shen X, (2007) Nuclear actin and actin-related proteins in chromatin dynamics. Curr Opin Cell Biol 19: 326-330 doi:10.1016/j.ceb.2007.04.009.
Ketema M, Wilhelmsen K, Kuikman I, Janssen H, Hodzic D, et al. (2007) Requirements for the localization of nesprin-3 at the nuclear envelope and its interaction with plectin. J Cell Sci 120: 3384-3394 doi:10.1242/jcs.014191.
Rando OJ, Zhao K, Crabtree GR, (2000) Searching for a function for nuclear actin. Trends Cell Biol 10: 92-97.
Park I, Han C, Jin S, Lee B, Choi H, et al. (2011) Myosin regulatory light chains are required to maintain the stability of myosin II and cellular integrity. Biochem J 434: 171-180 doi:10.1042/BJ20101473.
Briand N, Dugail I, Le Lay S, (2011) Cavin proteins: New players in the caveolae field. Biochimie 93: 71-77 doi:10.1016/j.biochi.2010.03.022.
Tagawa M, Ueyama T, Ogata T, Takehara N, Nakajima N, et al. (2008) MURC, a muscle-restricted coiled-coil protein, is involved in the regulation of skeletal myogenesis. Am J Physiol, Cell Physiol 295: C490-498 doi:10.1152/ajpcell.00188.2008.
Golomb E, Ma X, Jana SS, Preston YA, Kawamoto S, et al. (2004) Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family. J Biol Chem 279: 2800-2808 doi:10.1074/jbc.M309981200.
Vicente-Manzanares M, Ma X, Adelstein RS, Horwitz AR, (2009) Non-muscle myosin II takes centre stage in cell adhesion and migration. Nat Rev Mol Cell Biol 10: 778-790 doi:10.1038/nrm2786.
Togo T, Steinhardt RA, (2004) Nonmuscle myosin IIA and IIB have distinct functions in the exocytosis-dependent process of cell membrane repair. Mol Biol Cell 15: 688-695 doi:10.1091/mbc.E03-06-0430.
Swailes NT, Colegrave M, Knight PJ, Peckham M, (2006) Non-muscle myosins 2A and 2B drive changes in cell morphology that occur as myoblasts align and fuse. J Cell Sci 119: 3561-3570 doi:10.1242/jcs.03096.
Sakurai T, Fujita Y, Ohto E, Oguro A, Atomi Y, (2005) The decrease of the cytoskeleton tubulin follows the decrease of the associating molecular chaperone alphaB-crystallin in unloaded soleus muscle atrophy without stretch. FASEB J 19: 1199-1201 doi:10.1096/fj.04-3060fje.
Féasson L, Stockholm D, Freyssenet D, Richard I, Duguez S, et al. (2002) Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle. J Physiol (Lond) 543: 297-306.
Mermelstein CS, Portilho DM, Medeiros RB, Matos AR, Einicker-Lamas M, et al. (2005) Cholesterol depletion by methyl-beta-cyclodextrin enhances myoblast fusion and induces the formation of myotubes with disorganized nuclei. Cell Tissue Res 319: 289-297 doi:10.1007/s00441-004-1004-5.
Goudenege S, Dargelos E, Claverol S, Bonneu M, Cottin P, et al. (2007) Comparative proteomic analysis of myotube caveolae after milli-calpain deregulation. Proteomics 7: 3289-3298 doi:10.1002/pmic.200700124.
Volonte D, Peoples AJ, Galbiati F, (2003) Modulation of myoblast fusion by caveolin-3 in dystrophic skeletal muscle cells: implications for Duchenne muscular dystrophy and limb-girdle muscular dystrophy-1C. Mol Biol Cell 14: 4075-4088 doi:10.1091/mbc.E03-03-0161.
Hill MM, Bastiani M, Luetterforst R, Kirkham M, Kirkham A, et al. (2008) PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and function. Cell 132: 113-124 doi:10.1016/j.cell.2007.11.042.
Ogata T, Ueyama T, Isodono K, Tagawa M, Takehara N, et al. (2008) MURC, a muscle-restricted coiled-coil protein that modulates the Rho/ROCK pathway, induces cardiac dysfunction and conduction disturbance. Mol Cell Biol 28: 3424-3436 doi:10.1128/MCB.02186-07.
Bastiani M, Liu L, Hill MM, Jedrychowski MP, Nixon SJ, et al. (2009) MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. J Cell Biol 185: 1259-1273 doi:10.1083/jcb.200903053.
Leroy B, Rosier C, Erculisse V, Leys N, Mergeay M, et al. (2010) Differential proteomic analysis using isotope-coded protein-labeling strategies: comparison, improvements and application to simulated microgravity effect on Cupriavidus metallidurans CH34. Proteomics 10: 2281-2291 doi:10.1002/pmic.200900286.
Elias JE, Haas W, Faherty BK, Gygi SP, (2005) Comparative evaluation of mass spectrometry platforms used in large-scale proteomics investigations. Nat Methods 2: 667-675 doi:10.1038/nmeth785.
Mastroleo F, Van Houdt R, Leroy B, Benotmane MA, Janssen A, et al. (2009) Experimental design and environmental parameters affect Rhodospirillum rubrum S1H response to space flight. ISME J 3: 1402-1419 doi:10.1038/ismej.2009.74.
Shi Y, Elmets CA, Smith JW, Liu Y-T, Chen Y-R, et al. (2007) Quantitative proteomes and in vivo secretomes of progressive and regressive UV-induced fibrosarcoma tumor cells: mimicking tumor microenvironment using a dermis-based cell-trapped system linked to tissue chamber. Proteomics 7: 4589-4600 doi:10.1002/pmic.200700425.
Zhu C-H, Mouly V, Cooper RN, Mamchaoui K, Bigot A, et al. (2007) Cellular senescence in human myoblasts is overcome by human telomerase reverse transcriptase and cyclin-dependent kinase 4: consequences in aging muscle and therapeutic strategies for muscular dystrophies. Aging Cell 6: 515-523 doi:10.1111/j.1474-9726.2007.00306.x.
Swailes NT, Colegrave M, Knight PJ, Peckham M, (2006) Non-muscle myosins 2A and 2B drive changes in cell morphology that occur as myoblasts align and fuse. J Cell Sci 119: 3561-3570 doi:10.1242/jcs.03096.
