Art

J-GLOBAL ID：200902242834831355   Reference number：05A1025797

A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

新規なH101Q変異は脊髄小脳運動失調タイプ14におけるPKCγ欠失を引き起こす

Author (10)： ALONSO Isabel (Univ. Porto, Porto, PRT) ,  COSTA Cristina (Hospital Fernando da Fonseca, Amadora, PRT) ,  GOMES Andre (Univ. Coimbra, Coimbra, PRT) ,  FERRO Anabela (Univ. Porto, Porto, PRT) ,  SEIXAS Ana I. (Univ. Porto, Porto, PRT) ,  SILVA Sergio (Hospital de Sao Sebastiao, Feira, PRT) ,  CRUZ Vitor Tedim (Hospital de Sao Sebastiao, Feira, PRT) ,  COUTINHO Paula (Hospital de Sao Sebastiao, Feira, PRT) ,  SEQUEIROS Jorge (Univ. Porto, Porto, PRT) ,  SILVEIRA Isabel (Univ. Porto, Porto, PRT)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 50  Issue： 10  Page： 523-529  Publication year： 2005 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： SCA14 ,...

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JST classification (1)： Genetic variation  (EC01030Y)

Reference (21)：

• ALONSO, I. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CAC-NA1A missense mutation in patients from a large family. Arch Neurol. 2003, 60, 610-614
• BRKANAC, Z. A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol. 2002, 59, 1291-1295
• CHEN, C. Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKC gamma mutant mice. Cell. 1995, 83, 1233-1242
• CHEN, DH. 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
• CHEN, DH. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005, 64, 1258-1260

Terms in the title (7)： 変異 ,  脊髄 ,  小脳 ,  運動失調 ,  タイプ ,  PKCγ ,  欠失