PMID 23224319 2013 Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
PMID 25948718 2015 Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
PMID 19363265 2009 AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.
PMID 30279455 2018 Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
PMID 15488330 2004 Familial Alzheimer disease associated with A713T mutation in APP.
PMID 15365148 2004 A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
PMID 26402770 2015 Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants.
PMID 26803359 2016 Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations.
PMID 1303275 1992 More missense in amyloid gene.
rs63750066 in
APP gene and
Alzheimer's Disease
PMID 9754958 1998 Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
PMID 8577393 1995 A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.
PMID 1465129 1992 Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.
PMID 1671712 1991 Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
PMID 15365148 2004 This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.
PMID 24829003 2014 Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.
PMID 9328472 1997 A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
PMID 20831773 2010 EFNS guidelines for the diagnosis and management of Alzheimer's disease.
PMID 1678058 1991 Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.
PMID 15201367 2004 Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
PMID 8267572 1993 Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations.
PMID 21500874 2010 Preventing Alzheimer's disease and cognitive decline.
PMID 10677483 2000 Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
PMID 1303239 1992 Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
PMID 1415269 1992 Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
PMID 11528419 2001 The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
PMID 10656250 1999 Identification of a novel aspartic protease (Asp 2) as beta-secretase.
PMID 11063718 2000 Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.
PMID 11311152 2001 In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.
PMID 10867787 2000 Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
PMID 12034808 2002 An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).
PMID 1302033 1992 A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.