Publications
Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis
Abstract
A novel missense mutation, Leu723Pro, in the amyloid precursor protein (APP) gene was discovered in an early-onset Alzheimer's disease family. Expression of L723P mutant APP complementary DNA in CHO cells resulted in a 1.4- to 1.9-fold increased production of the 42(43)-amino acid length amyloid beta peptide compared with the wild-type sequence and was capable of causing apoptosis. The mutation is predicted to alter the luminal transmembrane length and helical arrangement of the APP molecule and thus affect the gamma-secretase cleavage site.
| Type | Journal |
|---|---|
| ISBN | 0364-5134 (Print) |
| Authors | Kwok, J. B.;Li, Q. X.;Hallupp, M.;Whyte, S.;Ames, D.;Beyreuther, K.;Masters, C. L.;Schofield, P. R. : |
| Publisher Name | ANNALS OF NEUROLOGY |
| Published Date | 2000-01-01 |
| Published Volume | 47 |
| Published Issue | 2 |
| Published Pages | 249-53 |
| Status | Published in-print |
| URL link to publisher's version | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10665499 |