Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth Syndrome.


Journal

bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
29 Apr 2024
Historique:
medline: 15 5 2024
pubmed: 15 5 2024
entrez: 15 5 2024
Statut: epublish

Résumé

Barth syndrome (BTHS) is a rare mitochondrial disease caused by pathogenic variants in the gene TAFAZZIN, which leads to abnormal cardiolipin (CL) metabolism on the inner mitochondrial membrane. Although

Identifiants

pubmed: 38746168
doi: 10.1101/2024.04.28.591534
pmc: PMC11092433
pii:
doi:

Types de publication

Preprint

Langues

eng

Auteurs

Classifications MeSH