[HTML][HTML] Presenilin-1 L166P mutant human pluripotent stem cell–derived neurons exhibit partial loss of γ-secretase activity in endogenous amyloid-β generation
Alzheimer's disease (AD) is the most frequent cause of dementia. There is compelling
evidence that the proteolytic processing of the amyloid precursor protein (APP) and …
evidence that the proteolytic processing of the amyloid precursor protein (APP) and …
Characterization and Molecular Profiling of PSEN1 Familial Alzheimer's Disease iPSC-Derived Neural Progenitors
AA Sproul, S Jacob, D Pre, SH Kim, MW Nestor… - PloS one, 2014 - journals.plos.org
Presenilin 1 (PSEN1) encodes the catalytic subunit of γ-secretase, and PSEN1 mutations
are the most common cause of early onset familial Alzheimer's disease (FAD). In order to …
are the most common cause of early onset familial Alzheimer's disease (FAD). In order to …
Effect of potent γ-secretase modulator in human neurons derived from multiple presenilin 1–induced pluripotent stem cell mutant carriers
Q Liu, S Waltz, G Woodruff, J Ouyang, MA Israel… - JAMA …, 2014 - jamanetwork.com
Importance Although considerable effort has been expended developing drug candidates
for Alzheimer disease, none have yet succeeded owing to the lack of efficacy or to safety …
for Alzheimer disease, none have yet succeeded owing to the lack of efficacy or to safety …
Amyloid-β precursor protein processing and oxidative stress are altered in human iPSC-derived neuron and astrocyte co-cultures carrying presenillin-1 gene …
RJ Elsworthy, MC King, A Grainger, E Fisher… - Molecular and Cellular …, 2021 - Elsevier
Abstract Introduction Presenilin-1 (PSEN1) gene mutations are the most common cause of
familial Alzheimer's disease (fAD) and are known to interfere with activity of the membrane …
familial Alzheimer's disease (fAD) and are known to interfere with activity of the membrane …
[PDF][PDF] The presenilin-1 ΔE9 mutation results in reduced γ-secretase activity, but not total loss of PS1 function, in isogenic human stem cells
G Woodruff, JE Young, FJ Martinez, F Buen, A Gore… - Cell reports, 2013 - cell.com
Summary Presenilin 1 (PS1) is the catalytic core of γ-secretase, which cleaves type 1
transmembrane proteins, including the amyloid precursor protein (APP). PS1 also has γ …
transmembrane proteins, including the amyloid precursor protein (APP). PS1 also has γ …
Loss of presenilin function is associated with a selective gain of APP function
C Deyts, M Clutter, S Herrera, N Jovanovic, A Goddi… - Elife, 2016 - elifesciences.org
Presenilin 1 (PS1) is an essential γ-secretase component, the enzyme responsible for
amyloid precursor protein (APP) intramembraneous cleavage. Mutations in PS1 lead to …
amyloid precursor protein (APP) intramembraneous cleavage. Mutations in PS1 lead to …
[PDF][PDF] Specific inhibition of β-secretase processing of the Alzheimer disease amyloid precursor protein
Development of disease-modifying therapeutics is urgently needed for treating Alzheimer
disease (AD). AD is characterized by toxic β-amyloid (Aβ) peptides produced by β-and γ …
disease (AD). AD is characterized by toxic β-amyloid (Aβ) peptides produced by β-and γ …
Mutant presenilin 1 increases the expression and activity of BACE1
L Giliberto, R Borghi, A Piccini, R Mangerini… - Journal of biological …, 2009 - ASBMB
Mutations of the presenilin 1 (PS1) gene are the most common cause of early onset familial
Alzheimer disease (FAD). PS1 mutations alter the activity of the γ-secretase on the β …
Alzheimer disease (FAD). PS1 mutations alter the activity of the γ-secretase on the β …
Presenilin-1 regulates neural progenitor cell differentiation in the adult brain
A Gadadhar, R Marr, O Lazarov - Journal of Neuroscience, 2011 - Soc Neuroscience
Presenilin-1 (PS1) is the catalytic core of the aspartyl protease γ-secretase. Previous genetic
studies using germ-line deletion of PS1 and conditional knock-out mice demonstrated that …
studies using germ-line deletion of PS1 and conditional knock-out mice demonstrated that …
Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease
MA Hernández-Sapiéns… - Neural Regeneration …, 2022 - journals.lww.com
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 …
familial Alzheimer's disease, harboring~ 300 causative mutations, and representing~ 90% of …
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