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Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene

โœ Scribed by Parvoneh Poorkaj; Vikram Sharma; Leojean Anderson; Ellen Nemens; Ma Elias Alonso; Harry Orr; June White; Leonard Heston; Thomas D. Bird; Gerard D. Schellenberg

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
156 KB
Volume
11
Category
Article
ISSN
1059-7794

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โœฆ Synopsis

Mutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy-documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A426P, and E120D), two were previously reported mutations in new families, and three mutations were confirmed in previously published families. Two of these new mutations are found within predicted transmembrane domains (TMDs 4, 7, and 8). The A426P mutation is the most C-terminal PS-1 mutation identified to date.

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A novel missense mutation (G209R) in exo
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease
โœ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 2 views

Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af