Unstable Repeat Expansion in Neurodegenerative Dementias: Mechanisms of Disease

키워드

참고문헌 (102)

1. Soto C, "Unfolding the role of protein misfolding in neurodegenerative dis eases", Nat Rev Neurosci, 4, pp.49~60 (2003)
2. Zoghbi HY, "Glutamine repeats and neurodegeneration", Annu Rev Neurosci, 23, pp.217~247 (2000)
3. Richards RI, "Dynamic mutations: a new class of mutations causing human disease", Cell, 70, pp.709~712 (1992)
4. Richards RI, "Dynamic mutation: possible mechanisms and significance in human disease", Trends Biochem Sci, 22, pp.432~436 (1997)
5. Mirkin SM, "Expandable DNA repeats and human disease", Nature, 447, pp.932~940 (2007)
6. nKovtun IV, "Features of trinucleotide repeat instability in vivo", Cell Res, 18, pp.198~213 (2008)
7. Liquori CL, "Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9", Science, 293, pp.864~867 (2001)
8. Matsuura T, "Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10", Nat Genet, 26, pp.191~194 (2000)
9. DeJesus-Hernandez M, "Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS", Neuron, 72, pp.245~256 (2011)
10. Renton AE, "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD", Neuron, 72, pp.257~268 (2011)
11. Hagerman RJ, "Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X", Neurology, 57, pp.127~130 (2001)
12. Jacquemont S, "Fragile X premutation tremor", ataxia syndrome: molecular, clinical, and neuroimaging correlates, 2003, pp.72, 869~878
13. Brook JD, "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, pp.385~ (1992)
14. Ranum LP, "Genetic mapping of a second myotonic dystrophy locus", Nat Genet, 19, pp.196~198 (1998)
15. Meola G, "Cerebral involvement in myotonic dystrophies", Muscle Nerve, 36, pp.294~306 (2007)
16. Jiang H, "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, 13, pp.3079~3088 (2004)
17. Schöls L, "Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis", Lancet Neurol, 3, pp.291~304 (2004)
18. Kobayashi H, "Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement", Am J Hum Genet, 89, pp.121~130 (2011)
19. Koide R, "Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings", Neurology, 49, pp.1605~1612 (1997)
20. Bauer P, "Trinucleotide repeat expansion in SCA17", TBP in white patients with Huntington’s disease-like phenotype, 2004, pp.41, 230~232
21. Bürk K, "Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3", J Neurol, 250, pp.207~211 (2003)
22. Ashizawa T, "Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion", Rinsho Shinkeigaku, 41, pp.1120~1122 (2001)
23. Rasmussen A, "Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10", Ann Neurol, 50, pp.234~239 (2001)
24. Gatto EM, "Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family", Neurology, 69, pp.216~218 (2007)
25. Mackenzie IR, "Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update", Acta Neuropathol, 119, pp.1~4 (2010)
26. Ferraiuolo L, "Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis", Nat Rev Neurol, 7, pp.616~630 (2011)
27. Lillo P, "Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders", J Clin Neurosci, 16, pp.1131~1135 (2009)
28. Gatchel JR, "Diseases of unstable repeat expansion: mechanisms and common principles", Nat Rev Genet, 6, pp.743~755 (2005)
29. Corbin F, "The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes", Hum Mol Genet, 6, pp.1465~1472 (1997)
30. Bear MF, "The mGluR theory of fragile X mental retardation", Trends Neurosci, 27, pp.370~377 (2004)
31. Huber KM, "Altered synaptic plasticity in a mouse model of fragile X mental retardation", Proc Natl Acad Sci U S A, 99, pp.7746~7750 (2002)
32. McBride SM, "Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome", Neuron, 45, pp.753~764 (2005)
33. Fisch GS, "Learning and memory in the FMR1 knockout mouse", Am J Med Genet, 84, pp.277~282 (1999)
34. Consortium TD-BFX, "Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium", Cell, 78, pp.23~33 (1994)
35. Ciechanover A, "The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg", Neuron, 40, pp.427~446 (2003)
36. Tsuda H, "The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1", Senseless proteins, 2005, pp.122, 633~644
37. Wanker EE, "HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system", Hum Mol Genet, 6, pp.487~495 (1997)
38. Kalchman MA, "a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain", Nat Genet, 16, pp.44~53 (1997)
39. Sittler A, "SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates", Mol Cell, 2, pp.427~436 (1998)
40. Modregger J, "PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington’s disease brains", Hum Mol Genet, 11, pp.2547~2558 (2002)
41. Li XJ, "A huntingtin-associated protein enriched in brain with implications for pathology", Nature, 378, pp.398~402 (1995)
42. Sun Y, "Polyglutamine-expanded huntingtin promotes sensitization of N-methyl-D-aspartate receptors via post-synaptic density 95", J Biol Chem, 276, pp.24713~24718 (2001)
43. Dunah AW, "Sp1 and TAFII130 transcriptional activity disrupted in early Huntington’s disease", Science, 296, pp.2238~2243 (2002)
44. Li SH, "Interaction of Huntington disease protein with transcriptional activator Sp1", Mol Cell Biol, 22, pp.1277~1287 (2002)
45. Harjes P, "The hunt for huntingtin function: interaction partners tell many different stories", Trends Biochem Sci, 28, pp.425~433 (2003)
46. Boutell JM, "Aberrant interactions of transcriptional repressor proteins with the Huntington’s disease gene product", huntingtin. Hum Mol Genet, 8, pp.1647~1655 (1999)
47. Hackam AS, "Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain", J Biol Chem, 275, pp.41299~41308 (2000)
48. Reynolds DS, "Dopamine modulates the susceptibility of striatal neurons to 3-nitropropionic acid in the rat model of Huntington’s disease", J Neurosci, 18, pp.10116~10127 (1998)
49. DiFiglia M, "Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain", Science, 277, pp.1990~1993 (1997)
50. Michalik A, "Pathogenesis of polyglutamine disorders: aggregation revisited", Hum Mol Genet, 12(2), pp.173~186 (2003)
51. Koide R, "Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)", Nat Genet, 6, pp.9~13 (1994)
52. Takano T, "Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization", Genomics, 32, pp.171~172 (1996)
53. Nucifora FC, "Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity", J Biol Chem, 278, pp.13047~13055 (2003)
54. Igarashi S, "Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch", Nat Genet, 18, pp.111~117 (1998)
55. Nakamura K, "SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein", Hum Mol Genet, 10, pp.1441~1448 (2001)
56. Friedman MJ, "Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration", Nat Neurosci, 10, pp.1519~1528 (2007)
57. Friedman MJ, "Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity", J Biol Chem, 283, pp.8283~8290 (2008)
58. Ranum LP, "Pathogenic RNA repeats: an expanding role in genetic disease", Trends Genet, 20, pp.506~512 (2004)
59. Jansen G, "Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice", Nat Genet, 13, pp.316~324 (1996)
60. Reddy S, "Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy", Nat Genet, 13, pp.323~335 (1996)
61. Klesert TR, "Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy", Nat Genet, 25, pp.105~109 (2000)
62. Fardaei M, "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells", Hum Mol Genet, 11, pp.805~814 (2002)
63. Miller JW, "Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy", EMBO J, 19, pp.4439~4448 (2000)
64. Kanadia RN, "A muscleblind knockout model for myotonic dystrophy", Science, 302, pp.1978~1980 (2003)
65. Timchenko NA, "RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1", J Biol Chem, 276, pp.7820~7826 (2001)
66. Ho TH, "Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy", Hum Mol Genet, 14, pp.1539~1547 (2005)
67. Todd PK, "RNA-mediated neurodegeneration in repeat expansion disorders", Ann Neurol, 67, pp.291~300 (2010)
68. Taneja KL, "Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues", J Cell Biol, 128, pp.995~1002 (1995)
69. Mankodi A, "Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat", Science, 289, pp.1769~1773 (2000)
70. de Haro M, "MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1", Hum Mol Genet, 15, pp.2138~2145 (2006)
71. Kanadia RN, "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, pp.11748~11753 (2006)
72. Kenneson A, "Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers", Hum Mol Genet, 10, pp.1449~1454 (2001)
73. Tassone F, "Transcription of the FMR1 gene in individuals with fragile X syndrome", Am J Med Genet, 97, pp.195~203 (2000)
74. Tassone F, "Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome", Am J Hum Genet, 66, pp.6~15 (2000)
75. Willemsen R, "The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor", ataxia syndrome, 2003, pp.12, 949~959
76. Jin P, "RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila", Neuron, 39, pp.739~747 (2003)
77. White MC, "Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10", PLoS Genet, 6, pp.1000984~ (2010)
78. White M, "Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: A toxic RNA gain-of-function model", J Neurosci Res, 90, pp.706~714 (2012)
79. Geser F, "Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: a spectrum of TDP-43 proteinopathies", Neuropathology, 30, pp.103~112 (2010)
80. Kobayashi Z, "Shimomura Y, et al. Clinicopathological characteristics of FTLD-TDP showing corticospinal tract degeneration but lacking lower motor neuron loss", J Neurol Sci, 298, pp.70~77 (2010)
81. Tollervey JR, "Characterizing the RNA targets and position-dependent splicing regulation by TDP-43", Nat Neurosci, 14, pp.452~458 (2011)
82. Polymenidou M, "Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43", Nat Neurosci, 14, pp.459~468 (2011)
83. Dölen G, "Correction of fragile X syndrome in mice", Neuron, 56, pp.955~962 (2007)
84. Bear MF, "Therapeutic implications of the mGluR theory of fragile X mental retardation", Genes Brain Behav, 4, pp.393~398 (2005)
85. Porter RH, "Fenobam: a clinically validated nonbenzodiazepine anxiolytic is a potent, selective, and noncompetitive mGlu5 receptor antagonist with inverse agonist activity", J Pharmacol Exp Ther, 315, pp.711~721 (2005)
86. Berry-Kravis E, "A pilot open label, single dose trial of fenobam in adults with fragile X syndrome", J Med Genet, 46, pp.266~271 (2009)
87. Larsen GA, "-dependent protein kinase C activation in acutely isolated neurons during oxygen and glucose deprivation", Neurochem Res, 29, pp.1931~1937 (2004)
88. Berry-Kravis E, "Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome", J Dev Behav Pediatr, 29, pp.293~302 (2008)
89. Pfister EL, "Huntington’s disease: silencing a brutal killer", Exp Neurol, 220, pp.226~229 (2009)
90. DiFiglia M, "Therapeutic silencing of mutant huntingtin with siRNA attenuates striatal and cortical neuropathology and behavioral deficits", Proc Natl Acad Sci U S A, 104, pp.17204~17209 (2007)
91. Smith RA, "Antisense oligonucleotide therapy for neurodegenerative disease", J Clin Invest, 116, pp.2290~2296 (2006)
92. Harper SQ, "RNA interference improves motor and neuropathological abnormalities in a Huntington’s disease mouse model", Proc Natl Acad Sci U S A, 102, pp.5820~5825 (2005)
93. Sah DW, "Oligonucleotide therapeutic approaches for Huntington disease", J Clin Invest, 121, pp.500~507 (2011)
94. Munoz-Sanjuan I, "The importance of integrating basic and clinical research toward the development of new therapies for Huntington disease", J Clin Invest, 121, pp.476~483 (2011)
95. Wheeler TM, "Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA", Science, 325, pp.336~339 (2009)
96. Mulders SA, "Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy", Proc Natl Acad Sci U S A, 106, pp.13915~13920 (2009)
97. Arambula JF, "A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding", Proc Natl Acad Sci U S A, 106, pp.16068~16073 (2009)
98. Warf MB, "Pentamidine reverses the splicing defects associated with myotonic dystrophy", Proc Natl Acad Sci U S A, 106, pp.18551~18556 (2009)
99. Pushechnikov A, "Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3", J Am Chem Soc, 131, pp.9767~9779 (2009)
100. Lee MM, "Rational and modular design of potent ligands targeting the RNA that causes myotonic dystrophy 2", ACS Chem Biol, 4, pp.345~355 (2009)
101. Shao J, "Polyglutamine diseases: emerging concepts in pathogenesis and therapy", Hum Mol Genet, 16(2), pp.115~123 (2007)
102. Sicot G, "Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges", Hum Mol Genet, 20(2), pp.116~123 (2011)