A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

M Mullan, F Crawford, K Axelman, H Houlden, L Lilius… - Nature …, 1992 - nature.com
Mutations at codon 717 in exon 17 of the β–amyloid precursor protein (APP) gene have
previously been shown to segregate with early onset Alzheimer's disease in some families …

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

A Goate, MC Chartier-Harlin, M Mullan, J Brown… - Nature, 1991 - nature.com
A LOCUS segregating with familial Alzheimer's disease (AD) has been mapped to
chromosome 21 (ref. 1), close to the amyloid precursor protein (APP) gene2–5 …

Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family

L Lannfelt, N Bogdanovic, H Appelgren, K Axelman… - Neuroscience …, 1994 - Elsevier
Since the report of a double mutation at codons 670 and 671 of the amyloid precursor
protein (APP) gene identified in two Swedish families with clinically diagnosed Alzheimer's …

Altered cleavage and secretion of a recombinant β–APP bearing the Swedish familial Alzheimer's disease mutation

KM Felsenstein, LW Hunihan, SB Roberts - Nature genetics, 1994 - nature.com
Mutations within the β–amyloid precursor protein gene cosegregate with the early–onset
form of familial Alzheimer's Disease (FAD). It is not known how these mutations result in …

Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

MC Chartier-Harlin, F Crawford, H Houlden, A Warren… - Nature, 1991 - nature.com
A MUTATION at codon 717 of the β-amyloid precursor protein gene has been found to
cosegregate with familial Alzheimer's disease in a single family1. This mutation has been …

Mutation in codon 713 of the β amyloid precursor protein gene presenting with schizophrenia

CT Jones, S Morris, CM Yates, A Moffoot, C Sharpe… - Nature …, 1992 - nature.com
Following reports of mutations of codon 717 in exon 17 of the amyloid precursor protein
(APP) gene in early–onset familial Alzheimer's disease, we screened exon 17 for new …

[引用][C] Framing β–amyloid

J Hardy - Nature genetics, 1992 - nature.com
B--amyloid deposition is central to the pathology ofboth Alzheimer's disease (AD) and some
forms of cerebral congophilicangiopathy (CA)'. In AD, B--amyloid deposition is found …

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of Aβ42 (43)

CB Eckman, ND Mehta, R Crook… - Human molecular …, 1997 - academic.oup.com
We report a novel mutation in the amyloid precursor protein gene (APP I716V) which
probably leads to familial early onset Alzheimer's disease with an onset age in the mid 50s …

Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds

H Fujigasaki, S Naruse, K Kaneko, H Hirasawa, S Tsuji… - Human genetics, 1994 - Springer
We sequenced the entire coding region of the amyloid precursor protein (APP) genes of 11
unrelated patients with Japanese familial Alzheimer's disease (FAD) in order to determine …

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene

L Hendriks, CM van Duijn, P Cras, M Cruts… - Nature …, 1992 - nature.com
Several families with an early–onset form of familial Alzheimer's disease have been found to
harbour mutations at a specific codon (717) of the gene for the β–amyloid precursor protein …