HK Kim, MHC Pham, KS Ko, BD Rhee… - Pflügers Archiv-European …, 2018 - Springer
Alternative splicing (AS) of protein-coding messenger RNAs is an essential regulatory mechanism in eukaryotic gene expression that controls the proper function of proteins. It is …
The mechanism by which mutations in the presenilin (PS) genes cause the most aggressive form of early-onset Alzheimer's disease (AD) is unknown, but fibroblasts from mutation …
V Colangelo, J Schurr, MJ Ball… - Journal of …, 2002 - Wiley Online Library
Alterations in transcription, RNA editing, translation, protein processing, and clearance are a consistent feature of Alzheimer's disease (AD) brain. To extend our initial study (Alzheimer …
A Fuso, L Seminara, RA Cavallaro, F D'Anselmi… - Molecular and Cellular …, 2005 - Elsevier
Few diseases are characterized by high homocysteine (HCY) and low folate and vitamin B12 blood levels. Alzheimer disease (AD) is among these. It has already been shown that …
M Cruts, CM van Duijn, H Backhovens… - Human molecular …, 1998 - academic.oup.com
Two closely related genes, the presenilins (PS), located at chromosomes 14q24. 3 and 1q42. 1, have been identified for autosomal dominant Alzheimer disease (AD) with onset …
M Hutton, J Hardy - Human molecular genetics, 1997 - academic.oup.com
The presenilin 1 and presenilin 2 genes have been identified as pathogenic loci involved in the majority of early onset, autosomal dominant Alzheimer's disease. A series of …
Y Ling, K Morgan, N Kalsheker - The international journal of biochemistry & …, 2003 - Elsevier
The processing of amyloid precursor protein (APP) generates amyloid-β (Aβ) peptides 1–40 and 1–42. The latter is neurotoxic and its accumulation results in amyloid fibril formation and …
N Brouwers, K Sleegers, C Van Broeckhoven - Annals of medicine, 2008 - Taylor & Francis
Alzheimer's disease (AD) is a complex disorder of the central nervous system (CNS). Molecular genetic research has provided a wealth of information regarding the genetic …
AJ Larner, M Doran - Journal of neurology, 2006 - Springer
It is now 10 years since the first report of mutations in the presenilin genes that were deterministic for familial autosomal dominant Alzheimer's disease. The most common of …