A New Pathogenic Mutation in the APP Gene (I716V) Increases the Relative Proportion of Aβ42(43)
Authors: Eckman, Christopher B.1; Mehta, Nitin D.1; Crook, Richard1; Perez-tur, Jordi1; Prihar, Guy1; Pfeiffer, Eric2; Graff-Radford, Neill3; Hinder, Paul3; Yager, Debra3; Zenk, Brenda3; Refolo, Lawrence M.3; Mihail Prada, Cristian3; Younkin, Steven G.3; Hutton, Mike1; Hardy, John1
Source: Human Molecular Genetics, Volume 6, Number 12, November 1997 , pp. 2087-2089(3)
Publisher: Oxford University Press
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 Aβ1-42(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 Aβ1-42(43) in model systems.
Document Type: Research Article
Publication date: November 1997
- Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics.
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- By this author: Eckman, Christopher B. ; Mehta, Nitin D. ; Crook, Richard ; Perez-tur, Jordi ; Prihar, Guy ; Pfeiffer, Eric ; Graff-Radford, Neill ; Hinder, Paul ; Yager, Debra ; Zenk, Brenda ; Refolo, Lawrence M. ; Mihail Prada, Cristian ; Younkin, Steven G. ; Hutton, Mike ; Hardy, John