Skeletal muscle delimited myopathy and verapamil toxicity in SUR2 mutant mouse models of AIMS.
ABCC9
AIMS
SUR2
myopathy
verapamil
Journal
EMBO molecular medicine
ISSN: 1757-4684
Titre abrégé: EMBO Mol Med
Pays: England
ID NLM: 101487380
Informations de publication
Date de publication:
07 06 2023
07 06 2023
Historique:
revised:
10
04
2023
received:
14
09
2022
accepted:
17
04
2023
medline:
8
6
2023
pubmed:
8
5
2023
entrez:
8
5
2023
Statut:
ppublish
Résumé
ABCC9-related intellectual disability and myopathy syndrome (AIMS) arises from loss-of-function (LoF) mutations in the ABCC9 gene, which encodes the SUR2 subunit of ATP-sensitive potassium (K
Identifiants
pubmed: 37154692
doi: 10.15252/emmm.202216883
pmc: PMC10245035
doi:
Substances chimiques
Adenosine Triphosphate
8L70Q75FXE
Potassium Channels, Inwardly Rectifying
0
Sulfonylurea Receptors
0
Verapamil
CJ0O37KU29
Abcc9 protein, mouse
0
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
e16883Subventions
Organisme : NHLBI NIH HHS
ID : R35 HL140024
Pays : United States
Organisme : NHLBI NIH HHS
ID : K99 HL150277
Pays : United States
Organisme : NHLBI NIH HHS
ID : R00 HL150277
Pays : United States
Informations de copyright
© 2023 The Authors. Published under the terms of the CC BY 4.0 license.
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