Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis
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.
|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|
|URL link to publisher's version||http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10665499|
|OpenAccess link to author's accepted manuscript version||https://publications.gimr.garvan.org.au/open-access/1365|