Results 71 to 80 of about 42,007 (233)
A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease
Clinical Interventions in Aging, 2016 Seong Soo An,1,* Sun Ah Park,2,* Eva Bagyinszky,1 Sun Oh Bae,1 Yoon-Jeong Kim,2 Ji Young Im,2 Kyung Won Park,3 Kee Hyung Park,4 Eun-Joo Kim,5 Jee Hyang Jeong,6 Jong Hun Kim,7 Hyun Jeong Han,8 Seong Hye Choi,9 SangYun Kim10 1Department of Bionano ...
An SS +13 more
doaj
Presenilin mutations and their impact on neuronal differentiation in Alzheimer’s disease
Neural Regeneration Research, 2022 The presenilin genes (PSEN1 and PSEN2) are mainly responsible for causing early-onset familial Alzheimer’s disease, harboring ~300 causative mutations, and representing ~90% of all mutations associated with a very aggressive disease form. Presenilin 1 is
Mercedes A Hernandez-Sapiens +8 more
doaj +1 more source
Alzheimer's disease-like alterations in peripheral cells from presenilin-1 transgenic mice [PDF]
, 2006 Many cases of early-onset inherited Alzheimer's disease (AD) are caused by mutations in the presenilin-1 (PS1) gene. Expression of PS1 mutations in cell culture systems and in primary neurons from transgenic mice increases their vulnerability to cell ...
Czech, Christian +6 more
core
Mitophagy in skeletal muscle: Impact of ageing, exercise and disuse
Experimental Physiology, EarlyView.Abstract Skeletal muscle plays an important role in whole‐body health, quality of life and regulation of metabolism. The maintenance of a healthy mitochondrial pool is imperative for the preservation of skeletal muscle quality and is mediated through mitochondrial quality control consisting of mitochondrial turnover mediated by a balance between ...
Anastasiya Kuznyetsova, David A. Hood
wiley +1 more source
Chemistry & Biology, 1999 Familial forms of Alzheimer's disease are caused by mutations in the genes encoding the presenilins, which are integral membrane proteins. Presenilins have been shown to interact with beta-amyloid precursor proteins and Notch receptors. Several recent studies have examined the role of presenilins in Notch processing.
openaire +2 more sources
Antifibrotic Effects of Amyloid-Beta and Its Loss in Cirrhotic Liver
Cells, 2020 The function and regulation of amyloid-beta (Aβ) in healthy and diseased liver remains unexplored. Because Aβ reduces the integrity of the blood-brain barrier we have examined its potential role in regulating the sinusoidal permeability of ...
Gayane Hrachia Buniatian +22 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney +4 more
wiley +1 more source
Presenilins and γ-Secretase in Membrane Proteostasis
Cells, 2019 The presenilin (PS) proteins exert a crucial role in the pathogenesis of Alzheimer disease (AD) by mediating the intramembranous cleavage of amyloid precursor protein (APP) and the generation of amyloid β-protein (Aβ).
Naoto Oikawa, Jochen Walter
doaj +1 more source
Identification of an archaeal presenilin-like intramembrane protease. [PDF]
PLoS ONE, 2010 BACKGROUND: The GXGD-type diaspartyl intramembrane protease, presenilin, constitutes the catalytic core of the γ-secretase multi-protein complex responsible for activating critical signaling cascades during development and for the production of β-amyloid
Celia Torres-Arancivia +6 more
doaj +1 more source
Treatment of Alzheimer's Disease with Anti-Homocysteic acid Antibody [PDF]
, 2008 Homocysteic acid (HA) may play an important role in Alzhiemer disease (AD) as we previously reported that HA induced accumulation of intraneuronal A[beta]42. In this study, we first analyzed HA levels in a mouse model of AD.
Frank M. LaFerla +3 more
core +5 more sources