文献リスト

1) Harper PS. Myotonic Dystrophy. 3rd ed ed. Philadelphia: WB Saunders; 2001

2) Brook JD, McCurrach ME, Harley HG, et al. 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. 1992; 68: 799-808

3) Fu YH, Pizzuti A, Fenwick RG, Jr., et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992; 255: 1256-8

4) Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992; 355: 545-6

5) Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. 1992; 255: 1253-5

6) Osborne RJ, Thornton CA. RNA-dominant diseases. Hum Mol Genet. 2006; 15 Spec No 2: R162-9

7) Ranum LP, Cooper TA. RNA-mediated neuromuscular disorders. Annu Rev Neurosci. 2006; 29: 259-77

8) Harris S, Moncrieff C, Johnson K. Myotonic dystrophy: will the real gene please step forward！ Hum Mol Genet. 1996; 5: 1417-23

9) Reddy S, Smith DB, Rich MM, et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet. 1996; 13: 325-35

10) Berul CI, Maguire CT, Gehrmann J, et al. Progressive atrioventricular conduction block in a mouse myotonic dystrophy model. J Interv Card Electrophysiol. 2000; 4: 351-8

11) Ohto H, Kamada S, Tago K, et al. Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya. Mol Cell Biol. 1999; 19: 6815-24

12) Kawakami K, Sato S, Ozaki H, et al. Six family genes--structure and function as transcription factors and their roles in development. Bioessays. 2000; 22: 616-26

13) Klesert TR, Cho DH, Clark JI, et al. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet. 2000; 25: 105-9

14) Mankodi A, Logigian E, Callahan L, et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science. 2000; 289: 1769-73

15) Finsterer J. Myotonic dystrophy type 2. Eur J Neurol. 2002; 9: 441-7

16) Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001; 293: 864-7

17) Day JW, Ricker K, Jacobsen JF, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003; 60: 657-64

18) 木村 隆, 斉藤 司, 藤原和彦, 他. 本邦DM2例の臨床像. 厚生労働省精神・神経疾患研究委託費 筋ジストロフィー治療のエビデンス構築に関する臨床研究 平成18年度班会議 抄録集. 2006. p. 117

19) Timchenko LT, Miller JW, Timchenko NA, et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 1996; 24: 4407-14

20) Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science. 1998; 280: 737-41

21) Savkur RS, Philips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet. 2001; 29: 40-7

22) Mankodi A, Takahashi MP, Jiang H, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell. 2002; 10: 35-44

23) Charlet BN, Savkur RS, Singh G, et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell. 2002; 10: 45-53

24) Kino Y, Mori D, Oma Y, et al. Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Hum Mol Genet. 2004; 13: 495-507

25) Taneja KL, McCurrach M, Schalling M, et al. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol. 1995; 128: 995-1002

26) Mankodi A, Urbinati CR, Yuan QP, et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet. 2001; 10: 2165-70

27) Fardaei M, Larkin K, Brook JD, et al. In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res. 2001; 29: 2766-71

28) Kanadia RN, Johnstone KA, Mankodi A, et al. A muscleblind knockout model for myotonic dystrophy. Science. 2003; 302: 1978-80

29) Machuca-Tzili L, Thorpe H, Robinson TE, et al. Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. Hum Genet. 2006; 120: 487-99

30) Kanadia RN, Shin J, Yuan Y, et al. 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. 2006; 103: 11748-53

31) Dansithong W, Paul S, Comai L, et al. MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem. 2005; 280: 5773-80

32) Ho TH, Charlet BN, Poulos MG, et al. Muscleblind proteins regulate alternative splicing. EMBO J. 2004; 23: 3103-12

33) Jiang H, Mankodi A, Swanson MS, et al. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet. 2004; 13: 3079-88

34) Kimura T, Nakamori M, Lueck JD, et al. Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2＋-ATPase in myotonic dystrophy type 1. Hum Mol Genet. 2005; 14: 2189-200

35) Mankodi A, Lin X, Blaxall BC, et al. Nuclear RNA foci in the heart in myotonic dystrophy. Circ Res. 2005; 97: 1152-5

36) Lin X, Miller JW, Mankodi A, et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet. 2006; 15: 2087-97

37) Nakamori M, Kimura T, Fujimura H, et al. Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy. Muscle Nerve. 2007; 36: 251-7

38) Kimura T, Pace SM, Wei L, et al. A variably spliced region in the type 1 ryanodine receptor may participate in an inter-domain interaction. Biochem J. 2007; 401: 317-24

39) Timchenko NA, Iakova P, Cai ZJ, et al. Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol Cell Biol. 2001; 21: 6927-38

40) Timchenko NA, Patel R, Iakova P, et al. Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J Biol Chem. 2004; 279: 13129-39

41) Kimura T, Takahashi MP, Okuda Y, et al. The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy. Neurosci Lett. 2000; 295: 93-6

42) Kimura T, Takahashi MP, Fujimura H, et al. Expression and distribution of a small-conductance calcium-activated potassium channel (SK3) protein in skeletal muscles from myotonic muscular dystrophy patients and congenital myotonic mice. Neurosci Lett. 2003; 347: 191-5

43) Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology. 2001; 57: 127-30

44) Tassone F, Hagerman RJ, Garcia-Arocena D, et al. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet. 2004; 41: e43

45) Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain. 2006; 129: 243-55

46) Willemsen R, Hoogeveen-Westerveld M, Reis S, et al. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet. 2003; 12: 949-59

47) Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet. 1999; 21: 379-84

48) Moseley ML, Zu T, Ikeda Y, et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet. 2006; 38: 758-69

49) Sarnat HB, Silbert SW. Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases. Arch Neurol. 1976; 33: 466-74

50) Furling D, Coiffier L, Mouly V, et al. Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet. 2001; 10: 2079-87

51) Amack JD, Mahadevan MS. Myogenic defects in myotonic dystrophy. Dev Biol. 2004; 265: 294- 301

52) Steinbach P, Glaser D, Vogel W, et al. The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. Am J Hum Genet. 1998; 62: 278-85

53) Cho DH, Tapscott SJ. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta. 2007; 1772: 195-204

54) Storbeck CJ, Drmanic S, Daniel K, et al. Inhibition of myogenesis in transgenic mice expressing the human DMPK 3'-UTR. Hum Mol Genet. 2004; 13: 589-600

55) Filippova GN, Thienes CP, Penn BH, et al. CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat Genet. 2001; 28: 335-43

56) Cho DH, Thienes CP, Mahoney SE, et al. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol Cell. 2005; 20: 483-9

57) Mahadevan MS, Yadava RS, Yu Q, et al. Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet. 2006; 38: 1066-70

58) Chen W, Wang Y, Abe Y, et al. Haploinsuffciency for Znf9 in Znf9＋/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J Mol Biol. 2007; 368: 8-17

59) Wheeler TM, Lueck JD, Krym MC, et al. Correction of chloride channelopathy and myotonia in a transgenic mouse model of DM1 by oligonucleotide-mediated skipping of clc-1 exon. Neurology. 2007; 68: (suppl 1) A2

60) Sergeant N, Sablonniere B, Schraen-Maschke S, et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet. 2001; 10: 2143-55

61) Leroy O, Wang J, Maurage CA, et al. Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1. Biochim Biophys Acta. 2006; 1762: 460-7

62) Buj-Bello A, Furling D, Tronchere H, et al. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet. 2002; 11: 2297-307

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