PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca
Alzheimer Disease
/ genetics
Animals
Autophagosomes
/ metabolism
Autophagy
/ genetics
Calcium
/ metabolism
Cell Line, Tumor
Endoplasmic Reticulum
/ metabolism
Genetic Diseases, Inborn
/ metabolism
Homeostasis
Humans
Lysosomes
/ genetics
Membrane Fusion
/ genetics
Mice
Mice, Knockout
Mitochondria
/ metabolism
Neurons
/ metabolism
Presenilin-2
/ genetics
Sarcoplasmic Reticulum Calcium-Transporting ATPases
/ genetics
rab GTP-Binding Proteins
/ genetics
rab7 GTP-Binding Proteins
ATP2A/SERCA
Alzheimer disease
ER-mitochondria tethering
RAB7
autophagosome-lysosome fusion
calcium
presenilin
Journal
Autophagy
ISSN: 1554-8635
Titre abrégé: Autophagy
Pays: United States
ID NLM: 101265188
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
pubmed:
21
3
2019
medline:
14
7
2020
entrez:
21
3
2019
Statut:
ppublish
Résumé
PSEN2 (presenilin 2) is one of the 3 proteins that, when mutated, causes early onset familial Alzheimer disease (FAD) cases. In addition to its well-known role within the γ-secretase complex (the enzyme ultimately responsible for Aβ peptides formation), PSEN2 is endowed with some γ-secretase-independent functions in distinct cell signaling pathways, such as the modulation of intracellular Ca
Identifiants
pubmed: 30892128
doi: 10.1080/15548627.2019.1596489
pmc: PMC6844518
doi:
Substances chimiques
PSEN2 protein, human
0
Presenilin-2
0
rab7 GTP-Binding Proteins
0
rab7 GTP-binding proteins, human
0
rab7 GTP-binding proteins, mouse
0
Sarcoplasmic Reticulum Calcium-Transporting ATPases
EC 3.6.3.8
rab GTP-Binding Proteins
EC 3.6.5.2
ATP2A1 protein, human
EC 7.2.2.10
Calcium
SY7Q814VUP
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2044-2062Références
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