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J-GLOBAL ID：201102222268214634   Reference number：11A1812940

Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson’s disease

LRRK2遺伝子の包括的変異解析は常染色体優性Parkinson病との関連を支持する変異体を顕わす

Author (13)： SEKI Naomi (Univ. Tokyo, Tokyo, JPN) ,  TAKAHASHI Yuji (Univ. Tokyo, Tokyo, JPN) ,  TOMIYAMA Hiroyuki (Juntendo Univ. School of Medicine, Tokyo, JPN) ,  ROGAEVA Ekaterina (Univ. Toronto, Ontario, CAN) ,  MURAYAMA Shigeo (Tokyo Metropolitan Inst. Gerontology, Tokyo, JPN) ,  MIZUNO Yoshikuni (Juntendo Univ. School of Medicine, Tokyo, JPN) ,  HATTORI Nobutaka (Juntendo Univ. School of Medicine, Tokyo, JPN) ,  MARRAS Connie (Toronto Western Hospital, Ontario, CAN) ,  LANG Anthony E (Toronto Western Hospital, Ontario, CAN) ,  ST GEORGE-HYSLOP Peter (Univ. Toronto, Ontario, CAN) ,  ST GEORGE-HYSLOP Peter (Univ. Cambridge, Cambridge, GBR) ,  GOTO Jun (Univ. Tokyo, Tokyo, JPN) ,  TSUJI Shoji (Univ. Tokyo, Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 56  Issue： 9  Page： 671-675  Publication year： Sep. 2011 
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： gene ,...
Semi thesaurus term： *genetic variation ,...

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JST classification (3)： Nervous system diseases  (GN03000O) ,  Molecular genetics in general  (EC02010J) ,  Research methods in genetics  (EC01020N)

Reference (46)：

• POLYMEROPOULOS, M. H. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997, 276, 2045-2047
• KITADAM, T. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998, 392, 605-608
• LEROY, E. The ubiquitin pathway in Parkinson's disease. Nature. 1998, 395, 451-452
• BONIFATI, V. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003, 299, 256-259
• PAISAN-RULZ, C. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron. 2004, 44, 595-600

Terms in the title (7)： LRRK2遺伝子 ,  変異解析 ,  常染色体 ,  優性 ,  Parkinson病 ,  支持 ,  変異体