Conformational changes of non-B DNA

J Choi, T Majima - Chemical Society Reviews, 2011 - pubs.rsc.org
In contrast to B-DNA that has a right-handed double helical structure with Watson–Crick
base pairing under the ordinary physiological conditions, repetitive DNA sequences under …

Alternative splicing isoforms in health and disease

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 …

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice

M Citron, D Westaway, W Xia, G Carlson, T Diehl… - Nature medicine, 1997 - nature.com
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 …

Gene expression profiling of 12633 genes in Alzheimer hippocampal CA1: transcription and neurotrophic factor down‐regulation and up‐regulation of apoptotic and …

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 …

S-adenosylmethionine/homocysteine cycle alterations modify DNA methylation status with consequent deregulation of PS1 and BACE and beta-amyloid production

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 …

Estimation of the genetic contribution of presenilin-1 and-2 mutations in a population-based study of presenile Alzheimer disease

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 …

The presenilins and Alzheimer's disease

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 …

Amyloid precursor protein (APP) and the biology of proteolytic processing: relevance to Alzheimer's disease

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 …

Molecular genetics of Alzheimer's disease: an update

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 …

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin–1 gene

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 …