Presenilin-1 mutations in Alzheimer's disease
C Russo, G Schettini, TC Saido, C Hulette, C Lippa… - Nature, 2000 - nature.com
C Russo, G Schettini, TC Saido, C Hulette, C Lippa, L Lannfelt, B Ghetti, P Gambetti…
Nature, 2000•nature.comMutations in the gene encoding the protein presenilin-1 are the most common cause of
familial Alzheimer's disease and they often produce a different disease course from sporadic
Alzheimer's and another familial form associated with mutations in the gene encoding β-
amyloid precursor protein. Here we show that a peculiar form of β-amyloid that is devoid of
the first ten amino acids accumulates in the brains of patients carrying presenilin-1
mutations, and is more abundant than in subjects affected by the other types of Alzheimer's.
familial Alzheimer's disease and they often produce a different disease course from sporadic
Alzheimer's and another familial form associated with mutations in the gene encoding β-
amyloid precursor protein. Here we show that a peculiar form of β-amyloid that is devoid of
the first ten amino acids accumulates in the brains of patients carrying presenilin-1
mutations, and is more abundant than in subjects affected by the other types of Alzheimer's.
Abstract
Mutations in the gene encoding the protein presenilin-1 are the most common cause of familial Alzheimer's disease and they often produce a different disease course from sporadic Alzheimer's and another familial form associated with mutations in the gene encoding β-amyloid precursor protein. Here we show that a peculiar form of β-amyloid that is devoid of the first ten amino acids accumulates in the brains of patients carrying presenilin-1 mutations, and is more abundant than in subjects affected by the other types of Alzheimer's.
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