Skeletal muscle from TBC1D4 p.Arg684Ter variant carriers is severely insulin resistant but exhibits normal metabolic responses during exercise.
Journal
Nature metabolism
ISSN: 2522-5812
Titre abrégé: Nat Metab
Pays: Germany
ID NLM: 101736592
Informations de publication
Date de publication:
31 Oct 2024
31 Oct 2024
Historique:
received:
03
11
2023
accepted:
27
09
2024
medline:
1
11
2024
pubmed:
1
11
2024
entrez:
1
11
2024
Statut:
aheadofprint
Résumé
In the Greenlandic Inuit population, 4% are homozygous carriers of a genetic nonsense TBC1D4 p.Arg684Ter variant leading to loss of the muscle-specific isoform of TBC1D4 and an approximately tenfold increased risk of type 2 diabetes
Identifiants
pubmed: 39482542
doi: 10.1038/s42255-024-01153-1
pii: 10.1038/s42255-024-01153-1
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Det Frie Forskningsråd (Danish Council for Independent Research)
ID : #8020 00288B
Organisme : Det Frie Forskningsråd (Danish Council for Independent Research)
ID : #5053 00095B
Organisme : Det Frie Forskningsråd (Danish Council for Independent Research)
ID : #7016 00386B
Organisme : Novo Nordisk Fonden (Novo Nordisk Foundation)
ID : #NNF14OC0013057
Organisme : Novo Nordisk Fonden (Novo Nordisk Foundation)
ID : #NNF17OC0028136
Organisme : Novo Nordisk Fonden (Novo Nordisk Foundation)
ID : #NNF17SA0031406
Organisme : Novo Nordisk Fonden (Novo Nordisk Foundation)
ID : #NNF14OC0013057
Organisme : Novo Nordisk Fonden (Novo Nordisk Foundation)
ID : #NNF17OC0028136
Organisme : Novo Nordisk Fonden (Novo Nordisk Foundation)
ID : #NNF17OC0028136
Organisme : Novo Nordisk Foundation Center for Basic Metabolic Research (NovoNordisk Foundation Center for Basic Metabolic Research)
ID : #NNF18CC0034900
Informations de copyright
© 2024. The Author(s).
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