Results 51 to 60 of about 35,583 (221)
The Nicastrin ectodomain adopts a highly thermostable structure [PDF]
, 2011 Nicastrin is a type I transmembrane glycoprotein, which is part of the high molecular weight gamma-secretase complex. gamma-Secretase is one of the key players associated with the generation of Alzheimer's disease pathology, since it liberates the ...
Beyer, Klaus +6 more
core +2 more sources
Chromosome Missegregation and Trisomy 21 Mosaicism in Alzheimer's Disease
Neurobiology of Disease, 1999 A connection between Alzheimer's disease (AD) and Down syndrome (trisomy 21) is indicated by the fact that all Down syndrome individuals develop Alzheimer's disease neuropathology by the 4th decade of life. Previous studies have examined the frequency of
Lisa N. Geller, Huntington Potter
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Mutations of three causative genes, namely presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP), have been identified as the major causes of early‐onset familial Alzheimer's disease (EOFAD).
Qi Qin +5 more
doaj +1 more source
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family
Brain Sciences, 2021 Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer’s disease (EOAD). Recently, emerging studies have reported several novel PSEN1 mutations among Asians.
Eva Bagyinszky +4 more
doaj +1 more source
Advanced Healthcare Materials, EarlyView.This review summarizes the roles of key central nervous system cell types, the extracellular matrix, and the blood‐brain barrier in neuroinflammation, and their integration into diverse 3D culture systems. It examines major incorporation strategies, including direct co‐culture, hydrogel encapsulation, transwell migration assays, and bioprinting ...
Emmanuelle D. Aiyegbusi +2 more
wiley +1 more source
Correlating familial Alzheimer’s disease gene mutations with clinical phenotype [PDF]
, 2010 Alzheimer’s disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it.
Rossor, M.N., Ryan, N.S.
core +1 more source
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
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To report 2 pedigrees of early⁃onset familial Alzheimer's disease (EOFAD) caused by PSEN1 gene mutation, review previous studies and summarize the PSEN1 gene mutation sites, clinical presentation and genotype characteristics of EOFAD in China ...
ZHANG Yuan +5 more
doaj +1 more source
Advanced Healthcare Materials, EarlyView.Neural cell–derived small extracellular vesicles (sEVs) are emerging as pivotal mediators in neurodegenerative diseases, exerting both pathogenic and therapeutic functions. This review synthesizes current evidence on how sEVs from distinct neural cell types regulate neurodegeneration, neuroprotection, biomarker discovery, and targeted drug delivery ...
Muhammad Waqas Salim +4 more
wiley +1 more source
Reduced antioxidant enzyme activity in brains of mice transgenic for human presenilin-1 with single or multiple mutations [PDF]
, 2006 Alzheimer's disease-related mutations in the presenilin-1 gene (PS1) are leading to an elevated production of neurotoxic beta-amyloid 1-42 and may additionally enhance oxidative stress.
Czech, Christian +5 more
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