医中誌リンクサービス


文献リスト

1) Licatalosi DD, Darnell RB. Splicing regulation in neurologic disease. Neuron. 2006; 52: 93-101
PubMed CrossRef
医中誌リンクサービス
2) OʼRourke JR, Swanson MS. Mechanisms of RNA-mediated disease. J Biol Chem. 2009; 284: 7419-23
PubMed CrossRef
医中誌リンクサービス
3) Gao K, Masuda A, Matsuura T, et al. Human branch point consensus sequence is yUnAy. Nucleic Acids Res. 2008; 36: 2257-67
PubMed CrossRef
医中誌リンクサービス
4) Fu Y, Masuda A, Ito M, et al. AG-dependent 3ʼ-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. Nucleic Acids Res. 2011; 39: 4396-404
PubMed CrossRef
医中誌リンクサービス
5) Gorlov IP, Gorlova OY, Frazier ML, et al. Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers. Am J Hum Genet. 2003; 73: 1157-61
PubMed CrossRef
医中誌リンクサービス
6) Masuda A, Shen XM, Ito M, et al. hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet. 2008; 17: 4022-35
PubMed CrossRef
医中誌リンクサービス
7) Bian Y, Masuda A, Matsuura T, et al. Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. Hum Mol Genet. 2009; 18: 1229-37
PubMed CrossRef
医中誌リンクサービス
8) Doktor TK, Schroeder LD, Vested A, et al. SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3ʼ splice site. Hum Mutat. 2011; 32: 220-30
PubMed CrossRef
医中誌リンクサービス
9) Hua Y, Sahashi K, Rigo F, et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature. 2011; 478: 123-6
PubMed
医中誌リンクサービス
10) Brichta L, Holker I, Haug K, et al. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol. 2006; 59: 970-5
CrossRef
医中誌リンクサービス
11) Sahashi K, Masuda A, Matsuura T, et al. In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5ʼ splice sites. Nucleic Acids Res. 2007; 35: 5995-6003
PubMed CrossRef
医中誌リンクサービス
12) Kishore S, Stamm S. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science. 2006; 311: 230-2
PubMed
医中誌リンクサービス
13) Ohe K, Mayeda A. HMGA1a trapping of U1 snRNP at an authentic 5ʼ splice site induces aberrant exon skipping in sporadic Alzheimerʼs disease. Mol Cell Biol. 2010; 30: 2220-8
PubMed CrossRef
医中誌リンクサービス
14) McKeon A, Pittock SJ. Paraneoplastic encephalo-myelopathies: pathology and mechanisms. Acta Neuropathol (Berl). 2011 Sep 22. [Epub ahead of print]
医中誌リンクサービス
15) Licatalosi DD, Mele A, Fak JJ, et al. HITS-CLIP yields genome-wide insights into brain alternative RNA processing. Nature. 2008; 456: 464-9
PubMed
医中誌リンクサービス
16) Zhang C, Frias MA, Mele A, et al. Integrative modeling defines the Nova splicing-regulatory network and its combinatorial controls. Science. 2010; 329: 439-43
PubMed
医中誌リンクサービス
17) Zhang C, Darnell RB. Mapping in vivo protein-RNA interactions at single-nucleotide resolution from HITS-CLIP data. Nat Biotechnol. 2011; 29: 607-14
PubMed CrossRef
医中誌リンクサービス
18) Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006; 314: 130-3
医中誌リンクサービス
19) Kwiatkowski TJ, Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009; 323: 1205-8
医中誌リンクサービス
20) Vance C, Rogelj B, Hortobagyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009; 323: 1208-11
医中誌リンクサービス
21) Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol. 2010; 9: 995-1007
PubMed CrossRef
医中誌リンクサービス
22) Lagier-Tourenne C, Polymenidou M, Cleveland DW. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet. 2010; 19: R46-64
PubMed CrossRef
医中誌リンクサービス
23) Ranum LP, Cooper TA. RNA-mediated neuromuscular disorders. Annu Rev Neurosci. 2006; 29: 259-77
PubMed CrossRef
医中誌リンクサービス
24) Fugier C, Klein AF, Hammer C, et al. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med. 2011; 17: 720-5
PubMed CrossRef
医中誌リンクサービス
25) Lim J, Crespo-Barreto J, Jafar-Nejad P, et al. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 2008; 452: 713-8
PubMed
医中誌リンクサービス
26) Moseley ML, Zu T, Ikeda Y, et al. Bidirectional expression of CUG and CAG expansion tran-scripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet. 2006; 38: 758-69
PubMed CrossRef
医中誌リンクサービス
27) Rudnicki DD, Holmes SE, Lin MW, et al. Huntingtonʼs disease--like 2 is associated with CUG repeat-containing RNA foci. Ann Neurol. 2007; 61: 272-82
PubMed CrossRef
医中誌リンクサービス


NPO医学中央雑誌刊行会
https://www.jamas.or.jp/
info@jamas.or.jp