Results 51 to 60 of about 25,523 (241)
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
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The FEBS Journal, EarlyView.Notch signalling is an evolutionarily conserved signalling pathway that directs cell growth and differentiation across multiple tissue types, and its regulation must be controlled across the lifespan. Aberrant Notch signalling due to genetic mutations that occur within the negative regulatory region of the Notch 1 gene is linked to the development of ...
Gerard F Hoyne
wiley +1 more source
Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
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
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
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
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Integrative physiology of skeletal muscle for maintaining cognitive health
The Journal of Physiology, EarlyView.Abstract figure legend Maintenance of brain/cognitive health and function is increasingly appreciated to be a systemic challenge. In particular, skeletal muscle influences the brain through release of myokines in response to contraction, which influence the expression of brain‐derived neurotrophic factor (BDNF) in the brain, a vital player in the ...
Matthew H. Brisendine, Joshua C. Drake
wiley +1 more source
Identification of Ubiquilin, a Novel Presenilin Interactor That Increases Presenilin Protein Accumulation [PDF]
The Journal of Cell Biology, 2000 Mutations in the highly homologous presenilin genes encoding presenilin-1 and presenilin-2 (PS1 and PS2) are linked to early-onset Alzheimer's disease (AD). However, apart from a role in early development, neither the normal function of the presenilins nor the mechanisms by which mutant proteins cause AD are well understood.
A L, Mah +3 more
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