Absence of a differentiation defect in muscle satellite cells from DM2 patients

Bonifazi, 2004, A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2, Diagn. Mol. Pathol., 13, 164 Botta, 2006, Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2), Biochim. Biophys. Acta, 1762, 329, 10.1016/j.bbadis.2005.11.004 Brook, 1992, Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member, Cell, 69, 385 Cardani, 2009, Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2, Neuromuscul. Disord., 19, 335, 10.1016/j.nmd.2009.03.002 Carrasco, 2002, Identification of intracellular signaling pathways that induce myotonic dystrophy protein kinase expression during myogenesis, Endocrinology, 143, 3017, 10.1210/endo.143.8.8972 Chen, 2007, Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy, J. Mol. Biol., 368, 8, 10.1016/j.jmb.2007.01.088 Day, 2005, RNA pathogenesis of the myotonic dystrophies, Neuromuscul. Disord., 15, 5, 10.1016/j.nmd.2004.09.012 Day, 2003, Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum, Neurology, 60, 657, 10.1212/01.WNL.0000054481.84978.F9 Furling, 2001, Defective satellite cells in congenital myotonic dystrophy, Hum. Mol. Genet., 10, 2079, 10.1093/hmg/10.19.2079 Furling, 2001, Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts, Neuromuscul. Disord., 11, 728, 10.1016/S0960-8966(01)00226-7 Furling, 2003, Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy, Am. J. Pathol., 162, 1001, 10.1016/S0002-9440(10)63894-1 Gerbasi, 2007, The myotonic dystrophy type 2 protein ZNF9 is part of an ITAF complex that promotes cap-independent translation, Mol. Cell. Proteomics, 6, 1049, 10.1074/mcp.M600384-MCP200 Glass, 2003, Molecular mechanisms modulating muscle mass, Trends Mol. Med., 9, 344, 10.1016/S1471-4914(03)00138-2 Harper, 2001 Ho, 2004, Muscleblind proteins regulate alternative splicing, EMBO J., 23, 3103, 10.1038/sj.emboj.7600300 Ho, 2005, Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy, Hum. Mol. Genet., 14, 1539, 10.1093/hmg/ddi162 Ho, 2005, Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy, J. Cell Sci., 118, 2923, 10.1242/jcs.02404 Horsley, 2004, Forming a multinucleated cell: molecules that regulate myoblast fusion, Cells Tissues Organs, 176, 67, 10.1159/000075028 Huichalaf, 2009, Reduction of ZNF9 inhibits the rate of protein translation in patients with myotonic dystrophy 2, J. Neurosci., 29, 9042, 10.1523/JNEUROSCI.1983-09.2009 Kanadia, 2006, Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy, Proc. Natl. Acad. Sci. U. S. A., 103, 11748, 10.1073/pnas.0604970103 Kino, 2004, Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats, Hum. Mol. Genet., 13, 495, 10.1093/hmg/ddh056 Krahe, 1995, Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing, Genomics, 28, 1, 10.1006/geno.1995.1099 Kuyumcu-Martinez, 2006, Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy, Prog. Mol. Subcell. Biol., 44, 133, 10.1007/978-3-540-34449-0_7 Kuyumcu-Martinez, 2007, Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation, Mol. Cell, 28, 68, 10.1016/j.molcel.2007.07.027 Larkin, 2001, Myotonic dystrophy—a multigene disorder, Brain Res. Bull., 56, 389, 10.1016/S0361-9230(01)00656-6 Lin, 2006, Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy, Hum. Mol. Genet., 15, 2087, 10.1093/hmg/ddl132 Liquori, 2001, Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9, Science, 293, 864, 10.1126/science.1062125 Margolis, 2006, DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression, Hum. Mol. Genet., 15, 1808, 10.1093/hmg/ddl103 Meola, 2007, Cerebral involvement in myotonic dystrophies, Muscle Nerve, 36, 294, 10.1002/mus.20800 Miller, 2000, Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy, EMBO J., 19, 4439, 10.1093/emboj/19.17.4439 Moller, 1989, Tissue-specific expression of two alternatively spliced insulin receptor mRNAs in man, Mol. Endocrinol., 3, 1263, 10.1210/mend-3-8-1263 Ranum, 2006, RNA-mediated neuromuscular disorders, Annu. Rev. Neurosci., 29, 259, 10.1146/annurev.neuro.29.051605.113014 Savkur, 2001, Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy, Nat. Genet., 29, 40, 10.1038/ng704 Savkur, 2004, Insulin receptor splicing alteration in myotonic dystrophy type 2, Am. J. Hum. Genet., 74, 1309, 10.1086/421528 Schara, 2006, Myotonic dystrophies type 1 and 2: a summary on current aspects, Semin. Pediatr. Neurol., 13, 71, 10.1016/j.spen.2006.06.002 Schoser, 2004, Muscle pathology in 57 patients with myotonic dystrophy type 2, Muscle Nerve, 29, 275, 10.1002/mus.10545 Seino, 1989, Alternative splicing of human insulin receptor messenger RNA, Biochem. Biophys. Res. Commun., 159, 312, 10.1016/0006-291X(89)92439-X Timchenko, 2001, RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1, J. Biol. Chem., 276, 7820, 10.1074/jbc.M005960200 Timchenko, 2001, Molecular basis for impaired muscle differentiation in myotonic dystrophy, Mol. Cell. Biol., 21, 6927, 10.1128/MCB.21.20.6927-6938.2001 Ventadour, 2006, Mechanisms of skeletal muscle atrophy, Curr. Opin. Rheumatol., 18, 631, 10.1097/01.bor.0000245731.25383.de Vihola, 2003, Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2, Neurology, 60, 1854, 10.1212/01.WNL.0000065898.61358.09