A new pathogenic mutation in the APP gene (1716V) increases the relative proportion of Aβ42(43)

Christopher B. Eckman, Nitin D. Mehta, Richard Crook, Jordi Perez-tur, Guy Prihar, Eric Pfeiffer, Neill Graff-Radford, Paul Hinder, Debra Yager, Brenda Zenk, Lawrence M. Refolo, Cristian Mihail Prada, Steven G. Younkin, Mike Hutton, John Hardy

Research output: Contribution to journalArticle

166 Scopus citations

Abstract

We report a novel mutation in the amyloid precursor protein gene (APP 1716V) 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 V7171 mutation thus providing a novel approach for further increasing Aβ1-42(43) in model systems.

Original languageEnglish (US)
Pages (from-to)2087-2089
Number of pages3
JournalHuman molecular genetics
Volume6
Issue number12
DOIs
StatePublished - Nov 1 1997

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Eckman, C. B., Mehta, N. D., Crook, R., Perez-tur, J., Prihar, G., Pfeiffer, E., Graff-Radford, N., Hinder, P., Yager, D., Zenk, B., Refolo, L. M., Prada, C. M., Younkin, S. G., Hutton, M., & Hardy, J. (1997). A new pathogenic mutation in the APP gene (1716V) increases the relative proportion of Aβ42(43). Human molecular genetics, 6(12), 2087-2089. https://doi.org/10.1093/hmg/6.12.2087