Experimental models of Barth syndrome.
Barth syndrome
cardiolipin
disease model
tafazzin
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
revised:
01
08
2021
received:
31
05
2021
accepted:
05
08
2021
pubmed:
10
8
2021
medline:
8
2
2022
entrez:
9
8
2021
Statut:
ppublish
Résumé
Mutation of the gene Tafazzin (TAZ) causes Barth syndrome, an X-linked disorder characterized by cardiomyopathy, skeletal muscle weakness, and neutropenia. TAZ is an acyltransferase that catalyzes the remodeling of cardiolipin, the signature phospholipid of the inner mitochondrial membrane. Here, we review the major model systems that have been established to study the role of cardiolipin remodeling in mitochondrial function and the pathogenesis of Barth syndrome. We summarize key features of each model and provide examples of how each has contributed to advance our understanding of TAZ function and Barth syndrome pathophysiology.
Identifiants
pubmed: 34370877
doi: 10.1002/jimd.12423
pmc: PMC8814986
mid: NIHMS1731777
doi:
Substances chimiques
Cardiolipins
0
Acyltransferases
EC 2.3.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
72-81Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL128694
Pays : United States
Organisme : NHLBI NIH HHS
ID : UH3 HL141798
Pays : United States
Informations de copyright
© 2021 SSIEM.
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