Presenilin Regulates Retinotectal Synapse Formation through EphB2 Receptor Processing
Sign Up to like & getrecommendations! Published in 2018 at "Developmental Neurobiology"
DOI: 10.1002/dneu.22638
Abstract: As the catalytic component of γ‐secretase, presenilin (PS) has long been studied in the context of Alzheimer’s disease through cleaving the amyloid precursor protein. PS/γ‐secretase, however, also cleaves a multitude of single‐pass transmembrane proteins that… read more here.
Keywords: receptor; presenilin; ephb2 receptor; synapse formation ... See more keywords
Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization.
Sign Up to like & getrecommendations! Published in 2019 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2019.05.185
Abstract: Clinical case study and functional characterization of the disease-associated presenilin-1 (PSEN1) mutations may help reveal the roles of PSEN1 in the pathogenesis of Alzheimer's disease (AD). By mutation screening of PSEN1, presenilin-2, and amyloid precursor… read more here.
Keywords: i249l p433s; early onset; production; chinese alzheimer ... See more keywords
A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2016.10.010
Abstract: A subset of Alzheimer's disease (AD) occurrence shows autosomal dominant, familial inheritance patterns. Such familial AD (FAD) are caused by mutations in APP, PSEN1, and PSEN2 genes, which encode amyloid-β (Aβ) precursor protein, presenilin 1… read more here.
Keywords: family early; mutation; chinese family; alzheimer disease ... See more keywords
Presenilin-mediated cleavage of APP regulates synaptotagmin-7 and presynaptic plasticity
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-06813-x
Abstract: Mutations of the intramembrane protease presenilin (PS) or of its main substrate, the amyloid precursor protein (APP), cause early-onset form of Alzheimer disease. PS and APP interact with proteins of the neurotransmitter release machinery without… read more here.
Keywords: cleavage app; mediated cleavage; presenilin mediated; app ... See more keywords
Abstract 14800: Presenilin 1 and Presenilin 2 Contribute to Mitophagy Including Alternative Pathway
Sign Up to like & getrecommendations! Published in 2020 at "Circulation"
DOI: 10.1161/circ.142.suppl_3.14800
Abstract: Introduction: Presenilin 1 (PS1) and presenilin 2 (PS2) are proteins that compose γ-secretase, which is a protease present in late endosome lysosomes. Recently, amyloid beta accumulation was found ... read more here.
Keywords: contribute mitophagy; presenilin; presenilin presenilin; 14800 presenilin ... See more keywords
The zebrafish orthologue of familial Alzheimer’s disease gene PRESENILIN 2 is required for normal adult melanotic skin pigmentation
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0206155
Abstract: Alzheimer’s disease is the most common form of age-related dementia. At least 15 mutations in the human gene PRESENILIN 2 (PSEN2) have been found to cause familial Alzheimer’s disease (fAD). Zebrafish possess an orthologous gene,… read more here.
Keywords: alzheimer disease; skin; disease; pigmentation ... See more keywords
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family
Sign Up to like & getrecommendations! Published in 2021 at "Brain Sciences"
DOI: 10.3390/brainsci11101328
Abstract: 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. In this study, a PSEN1 Val96Phe mutation was discovered in… read more here.
Keywords: mutation; psen1 val96phe; family; val96phe mutation ... See more keywords
Angiostrongylus cantonensis an Atypical Presenilin: Epitope Mapping, Characterization, and Development of an ELISA Peptide Assay for Specific Diagnostic of Angiostrongyliasis
Sign Up to like & getrecommendations! Published in 2022 at "Membranes"
DOI: 10.3390/membranes12020108
Abstract: Background: Angiostrongyliasis, the leading cause universal of eosinophilic meningitis, is an emergent disease due to Angiostrongylus cantonensis (rat lungworm) larvae, transmitted accidentally to humans. The diagnosis of human angiostrongyliasis is based on epidemiologic characteristics, clinical… read more here.
Keywords: cantonensis; angiostrongylus cantonensis; elisa peptide; angiostrongyliasis ... See more keywords