title: A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
abstract: 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. Cells transfected with cDNAs bearing this mutation produce more A beta 1-42(43) than those transfected with wild-type APP and this effect is additive with that of the previously reported APP V717I mutation thus providing a novel approach for further increasing A beta 1-42(43) in model systems.
authors.affiliation: Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
authors.forename: C B
authors.initials: CB
authors.lastname: Eckman
authors.forename: N D
authors.initials: ND
authors.lastname: Mehta
authors.forename: R
authors.initials: R
authors.lastname: Crook
authors.forename: J
authors.initials: J
authors.lastname: Perez-tur
authors.forename: G
authors.initials: G
authors.lastname: Prihar
authors.forename: E
authors.initials: E
authors.lastname: Pfeiffer
authors.forename: N
authors.initials: N
authors.lastname: Graff-Radford
authors.forename: P
authors.initials: P
authors.lastname: Hinder
authors.forename: D
authors.initials: D
authors.lastname: Yager
authors.forename: B
authors.initials: B
authors.lastname: Zenk
authors.forename: L M
authors.initials: LM
authors.lastname: Refolo
authors.forename: C M
authors.initials: CM
authors.lastname: Prada
authors.forename: S G
authors.initials: SG
authors.lastname: Younkin
authors.forename: M
authors.initials: M
authors.lastname: Hutton
authors.forename: J
authors.initials: J
authors.lastname: Hardy
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000209:etiology / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D010446:Peptide Fragments / Q000235:genetics*; D017354:Point Mutation
chemical_list: C094559:APP717; D016229:Amyloid beta-Peptides; D016564:Amyloid beta-Protein Precursor; D010446:Peptide Fragments; C075222:amyloid beta-protein (1-42); C098994:amyloid beta-protein (1-43)