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Volumn 64, Issue 6, 2007, Pages 913-914

Another mutation in cysteine 131 in protein kinase Cγ as a cause of spinocerebellar ataxia type 14 [1]

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE 131; CYSTEINE DERIVATIVE; PROTEIN KINASE C GAMMA; UNCLASSIFIED DRUG;

EID: 34250303891     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.64.6.913     Document Type: Letter
Times cited : (12)

References (8)
  • 1
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    • A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter
    • Yamashita I, Sasaki H, Yabe I, et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol. 2000;48:156-163.
    • (2000) Ann Neurol , vol.48 , pp. 156-163
    • Yamashita, I.1    Sasaki, H.2    Yabe, I.3
  • 2
    • 0037385006 scopus 로고    scopus 로고
    • Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
    • Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003;72:839-849.
    • (2003) Am J Hum Genet , vol.72 , pp. 839-849
    • Chen, D.H.1    Brkanac, Z.2    Verlinde, C.L.3
  • 3
    • 4043178555 scopus 로고    scopus 로고
    • Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
    • Stevanin G, Hahn V, Lohmann E, et al. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol. 2004;61:1242-1248.
    • (2004) Arch Neurol , vol.61 , pp. 1242-1248
    • Stevanin, G.1    Hahn, V.2    Lohmann, E.3
  • 4
    • 0346734156 scopus 로고    scopus 로고
    • Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
    • van de Warrenburg BP, Verbeek DS, Piersma SJ, et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology. 2003;61:1760-1765.
    • (2003) Neurology , vol.61 , pp. 1760-1765
    • van de Warrenburg, B.P.1    Verbeek, D.S.2    Piersma, S.J.3
  • 5
    • 27644586218 scopus 로고    scopus 로고
    • New mutations in protein kinase C gamma associated with spinocerebellar ataxia type 14
    • Klebe S, Durr A, Rentschler A, et al. New mutations in protein kinase C gamma associated with spinocerebellar ataxia type 14. Ann Neurol. 2005;58:720-729.
    • (2005) Ann Neurol , vol.58 , pp. 720-729
    • Klebe, S.1    Durr, A.2    Rentschler, A.3
  • 6
    • 33748977606 scopus 로고    scopus 로고
    • Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia
    • Dalski A, Mitulla B, Burk K, Schattenfroh C, Schwinger E, Zuhlke C. Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. J Neurol. 2006;253:1111-1112.
    • (2006) J Neurol , vol.253 , pp. 1111-1112
    • Dalski, A.1    Mitulla, B.2    Burk, K.3    Schattenfroh, C.4    Schwinger, E.5    Zuhlke, C.6
  • 7
    • 33750348973 scopus 로고    scopus 로고
    • Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
    • Hiramoto K, Kawakami H, Inoue K, et al. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Mov Disord. 2006;21:1355-1360.
    • (2006) Mov Disord , vol.21 , pp. 1355-1360
    • Hiramoto, K.1    Kawakami, H.2    Inoue, K.3
  • 8
    • 0026451081 scopus 로고
    • Intracellular signaling by hydrolysis of phospholipids and activation of protein kinase C
    • Nishizuka Y. Intracellular signaling by hydrolysis of phospholipids and activation of protein kinase C. Science. 1992;258:607-614.
    • (1992) Science , vol.258 , pp. 607-614
    • Nishizuka, Y.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.