ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.
Adaptor Proteins, Signal Transducing
/ genetics
Amyotrophic Lateral Sclerosis
/ genetics
Animals
Autophagosomes
/ physiology
Autophagy
/ genetics
Autophagy-Related Proteins
/ genetics
Biomarkers
/ metabolism
Cell Line
Dementia
/ genetics
Genetic Predisposition to Disease
Humans
Hydrogen-Ion Concentration
Lysosomal Membrane Proteins
/ genetics
Mice
Mice, Transgenic
Microtubule-Associated Proteins
/ genetics
Mutation
Protein Binding
Sequestosome-1 Protein
/ genetics
Up-Regulation
Vacuolar Proton-Translocating ATPases
/ genetics
UBQLN2
amyotrophic lateral sclerosis
autophagy
ubiquilin
vacuolar ATPase pump
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
30 06 2020
30 06 2020
Historique:
pubmed:
10
6
2020
medline:
2
9
2020
entrez:
10
6
2020
Statut:
ppublish
Résumé
Mutations in
Identifiants
pubmed: 32513711
pii: 1917371117
doi: 10.1073/pnas.1917371117
pmc: PMC7334651
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
Autophagy-Related Proteins
0
Biomarkers
0
Lamp1 protein, mouse
0
Lysosomal Membrane Proteins
0
Map1lc3b protein, mouse
0
Microtubule-Associated Proteins
0
Sequestosome-1 Protein
0
Sqstm1 protein, mouse
0
UBQLN2 protein, human
0
ATP6V1G1 protein, human
EC 3.6.1.-
Vacuolar Proton-Translocating ATPases
EC 3.6.1.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
15230-15241Subventions
Organisme : NINDS NIH HHS
ID : R01 NS046535
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS078504
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS098243
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS100008
Pays : United States
Commentaires et corrections
Type : ErratumIn
Déclaration de conflit d'intérêts
The authors declare no competing interest.
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