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
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