Results 1 to 10 of about 42,007 (233)
Versatility of presenilin 1 [PDF]
Proceedings of the National Academy of Sciences, 2017 Mutations in PSEN1 and PSEN2 genes, encoding presenilin 1 (PS1) and presenilin 2 (PS2), respectively, cause autosomal-dominant Alzheimer’s disease (ADAD) (1, 2). The precise mechanism by which PS1 mutations lead to AD is under active investigation. Multiple theories have been suggested to explain the role of PS1 and PS2 mutations on AD pathogenesis ...
Georgia R, Frost +2 more
openaire +2 more sources
Presenilin Deficiency Increases Susceptibility to Oxidative Damage in Fibroblasts
Frontiers in Aging Neuroscience, 2022 Alzheimer’s disease (AD) is a genetic and sporadic neurodegenerative disease characterized by extracellular amyloid-β-protein (Aβ) aggregates as amyloid plaques and neuronal loss in the brain parenchyma of patients.
Kun Zou +7 more
doaj +1 more source
Nuclear translocation and signalling of L1-CAM in human carcinoma cells requires ADAM10 and presenilin/gamma-secretase activity [PDF]
, 2009 L1-CAM (L1 cell-adhesion molecule), or more simply L1, plays an important role in the progression of human carcinoma. Overexpression promotes tumour-cell invasion and motility, growth in nude mice and tumour metastasis.
Riedle, Svenja +6 more
core +2 more sources
Cellular functions of gamma-secretase-related proteins [PDF]
, 2006 Amyloid-beta pepticle (A beta) is generated by gamma-secretase, a membrane protein complex with an unusual aspartyl protease activity consisting of the four components presenilin, nicastrin, APH-1 and PEN-2. Presenilin is considered the catalytic subunit
Haass, Christian, Haffner, Christof
core +1 more source
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum [PDF]
, 2005 In contrast to the common and genetically complex senile form of Alzheimer's disease (AD), the molecular genetic dissection of inherited presenile dementias has given important mechanistic insights into the pathogenesis of degenerative brain disease ...
Cruts, Marc +5 more
core +1 more source
The role and therapeutic targeting of α-, β- and γ-secretase in Alzheimer's disease [PDF]
, 2015 Alzheimer's disease (AD) is the most common form of dementia in the elderly and its prevalence is set to increase rapidly in coming decades. However, there are as yet no available drugs that can halt or even stabilize disease progression. One of the main
Baillie, George S. +3 more
core +1 more source
Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021 Introduction We investigated the frequency, neuropathology, and phenotypic characteristics of spastic paraplegia (SP) that precedes dementia in presenilin 1 (PSEN1) related familial Alzheimer's disease (AD).
Viorica Chelban +23 more
doaj +1 more source
Presenilin-ryanodine receptor connection [PDF]
Proceedings of the National Academy of Sciences, 2013 The Presenilins (PS) gene family is composed of two members: PS1 and PS2. Mutations in PSs are linked to familial Alzheimer's disease (FAD) (1). PSs are the catalytic subunits of the γ-secretase multimolecular complex, which mediates the intramembranous cleavage of many type I membrane proteins, including amyloid precursor protein (APP) and Notch (2, 3)
Luciano, D'Adamio, Pablo E, Castillo
openaire +2 more sources
G3: Genes, Genomes, Genetics, 2020 Autophagy is a catabolic process that provides cells with energy and molecular building blocks during nutritional stress. Autophagy also removes misfolded proteins and damaged organelles, a critical mechanism for cellular repair.
Claire Reynolds-Peterson +11 more
doaj +1 more source
Genome biology, 2002 The presenilins are evolutionarily conserved transmembrane proteins that regulate cleavage of certain other proteins in their transmembrane domains. The clinical significance of this regulation is shown by the contribution of presenilin mutations to 20-50% of early-onset cases of inherited Alzheimer's disease.
Tandon, Anurag, Fraser, Paul
openaire +2 more sources