A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore.
Amyotrophic Lateral Sclerosis
/ genetics
Valosin Containing Protein
/ genetics
Humans
Frontotemporal Dementia
/ genetics
Mitochondria
/ metabolism
Mitochondrial Permeability Transition Pore
/ metabolism
Mutation
Cell Line, Tumor
Membrane Potential, Mitochondrial
/ genetics
Mitochondrial Membrane Transport Proteins
/ genetics
Calcium
/ metabolism
Amyotrophic lateral sclerosis
Frontotemporal dementia
Mitochondria
Mitochondrial dysfunction
Mitochondrial permeability transition pore
VCP
Journal
Acta neuropathologica communications
ISSN: 2051-5960
Titre abrégé: Acta Neuropathol Commun
Pays: England
ID NLM: 101610673
Informations de publication
Date de publication:
10 Oct 2024
10 Oct 2024
Historique:
received:
14
08
2024
accepted:
23
09
2024
medline:
11
10
2024
pubmed:
11
10
2024
entrez:
10
10
2024
Statut:
epublish
Résumé
Valosin-containing protein (VCP) is a ubiquitously expressed type II AAA
Identifiants
pubmed: 39390590
doi: 10.1186/s40478-024-01866-0
pii: 10.1186/s40478-024-01866-0
doi:
Substances chimiques
Valosin Containing Protein
EC 3.6.4.6
Mitochondrial Permeability Transition Pore
0
VCP protein, human
EC 3.6.4.6
Mitochondrial Membrane Transport Proteins
0
Calcium
SY7Q814VUP
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
161Subventions
Organisme : VLAIO Baekeland mandate
ID : HBC.2019.2575
Organisme : Flanders Innovation & Entrepreneurship (VLAIO)
ID : 030383
Informations de copyright
© 2024. The Author(s).
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