A New Pathogenic Mutation in the APP Gene (I716V) Increases the Relative Proportion of A 42(43)
| Autor: | Paul Hinder, Debra Yager, Richard Crook, Eric Pfeiffer, Cristian Mihail Prada, Jordi Pérez-Tur, Nitin D. Mehta, Neill R. Graff-Radford, Brenda Zenk, Steven G. Younkin, Lawrence M. Refolo, Christopher B. Eckman, G. Prihar, Mike Hutton, John Hardy |
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| Rok vydání: | 1997 |
| Předmět: |
Amyloid beta-Protein Precursor
Degenerative disease Alzheimer Disease mental disorders Genetics medicine Amyloid precursor protein Humans Point Mutation Age of Onset Molecular Biology Gene Genetics (clinical) Amyloid beta-Peptides biology Point mutation General Medicine Transfection Middle Aged medicine.disease Peptide Fragments Mutation (genetic algorithm) biology.protein Female Alzheimer's disease Age of onset |
| Zdroj: | Human Molecular Genetics. 6:2087-2089 |
| ISSN: | 1460-2083 0964-6906 |
| DOI: | 10.1093/hmg/6.12.2087 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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