α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.
ER stress
Fabry disease
Missense mutations
Unfolded protein response
α-galactosidase A
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
22
09
2022
accepted:
11
10
2022
entrez:
8
11
2022
pubmed:
9
11
2022
medline:
9
11
2022
Statut:
epublish
Résumé
Anderson-Fabry Disease (FD) is an X-linked lysosomal disorder caused by mutations in
Identifiants
pubmed: 36345359
doi: 10.1016/j.ymgmr.2022.100926
pii: S2214-4269(22)00086-6
pmc: PMC9636577
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100926Informations de copyright
© 2022 The Authors.
Déclaration de conflit d'intérêts
This work was supported by a grant from 10.13039/100015362Amicus Therapeutics, United States [Investigator Initiated Program] (to L.R.). The funding source had no involvement in the research here presented at any stage.
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