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, A4
Impaired proteolytic processing of Presenilin-1 in chromosome 14-linked familial Alzheimer's disease patient lymphocytes
✍ Scribed by Hiroshi Takahashi; Marc Mercken; Toshiyuki Honda; Yuko Saito; Miyuki Murayama; Schaochuen Song; Akihiko Takashima
- Book ID
- 117477341
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 84 KB
- Volume
- 260
- Category
- Article
- ISSN
- 0304-3940
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The majority of cases with familial Alzheimer’s disease (FAD) are linked to mutations of the presenilin (PS) genes. These genes show considerable sequence similarity to the __sel‐12__ gene of __Caenorhabditis elegans__, which has been postulated to function in the facilitated signalling by __lin‐12_
To determine whether the presenilin 1 (PS1), presenilin 2 (PS2) and amyloid beta-protein precursor (APP) mutations linked to familial Alzheimer's disease (FAD) increase the extracellular concentration of amyloid beta-protein (A beta) ending at A beta 42(43) in vivo, we performed a blinded comparison