메뉴 건너뛰기




Volumn 48, Issue 3, 2013, Pages 381-386

Triple a syndrome in Japan

Author keywords

AAA; Motor neuron disease; Nationwide survey; Nuclear pore complex; Triple A syndrome

Indexed keywords

ADADIN PROTEIN; GREEN FLUORESCENT PROTEIN; MUTANT PROTEIN; UNCLASSIFIED DRUG;

EID: 84883053560     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23770     Document Type: Article
Times cited : (20)

References (16)
  • 3
    • 0037947770 scopus 로고    scopus 로고
    • The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome
    • Cronshaw JM, Matunis MJ. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci USA 2003;100:5823-5827.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 5823-5827
    • Cronshaw, J.M.1    Matunis, M.J.2
  • 6
  • 7
    • 33144483974 scopus 로고    scopus 로고
    • ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome
    • Hirano M, Furiya Y, Asai H, Yasui A, Ueno S. ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome. Proc Natl Acad Sci USA 2006;103:2298-2303.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 2298-2303
    • Hirano, M.1    Furiya, Y.2    Asai, H.3    Yasui, A.4    Ueno, S.5
  • 9
    • 0036185098 scopus 로고    scopus 로고
    • Analysis of the AAAS gene in a Japanese patient with triple A syndrome
    • Katsumata N, Hirose H, Kagami M, Tanaka T. Analysis of the AAAS gene in a Japanese patient with triple A syndrome. Endocr J 2002;49:49-53.
    • (2002) Endocr J , vol.49 , pp. 49-53
    • Katsumata, N.1    Hirose, H.2    Kagami, M.3    Tanaka, T.4
  • 10
    • 70350754464 scopus 로고    scopus 로고
    • Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin
    • Asai H, Hirano M, Shimada K, Kiriyama T, Furiya Y, Ikeda M, et al. Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. Hum Mol Genet 2009;18:3533-3543.
    • (2009) Hum Mol Genet , vol.18 , pp. 3533-3543
    • Asai, H.1    Hirano, M.2    Shimada, K.3    Kiriyama, T.4    Furiya, Y.5    Ikeda, M.6
  • 12
    • 33847645440 scopus 로고    scopus 로고
    • DNA single-strand break repair is impaired in aprataxin-related ataxia
    • Hirano M, Yamamoto A, Mori T, Lan L, Iwamoto TA, Aoki M, et al. DNA single-strand break repair is impaired in aprataxin-related ataxia. Ann Neurol 2007;61:162-174.
    • (2007) Ann Neurol , vol.61 , pp. 162-174
    • Hirano, M.1    Yamamoto, A.2    Mori, T.3    Lan, L.4    Iwamoto, T.A.5    Aoki, M.6
  • 14
    • 0038299041 scopus 로고    scopus 로고
    • Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease
    • Kimber J, McLean BN, Prevett M, Hammans SR. Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry 2003;74:654-657.
    • (2003) J Neurol Neurosurg Psychiatry , vol.74 , pp. 654-657
    • Kimber, J.1    McLean, B.N.2    Prevett, M.3    Hammans, S.R.4
  • 15
    • 23844497563 scopus 로고    scopus 로고
    • Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005
    • Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, et al. Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. Clin Genet 2005;68:215-221.
    • (2005) Clin Genet , vol.68 , pp. 215-221
    • Brooks, B.P.1    Kleta, R.2    Stuart, C.3    Tuchman, M.4    Jeong, A.5    Stergiopoulos, S.G.6
  • 16
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression
    • Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987;15:7155-7174.
    • (1987) Nucleic Acids Res , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.