AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome.
AAV9
Barth syndrome
cardiac gene therapy
mitochondrial disease
promoter comparison
tafazzin
Journal
Human gene therapy
ISSN: 1557-7422
Titre abrégé: Hum Gene Ther
Pays: United States
ID NLM: 9008950
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
pubmed:
3
8
2018
medline:
13
3
2020
entrez:
3
8
2018
Statut:
ppublish
Résumé
Barth syndrome (BTHS) is a rare mitochondrial disease that affects heart and skeletal muscle and has no curative treatment. It is caused by recessive mutations in the X-linked gene TAZ, which encodes tafazzin. To develop a clinically relevant gene therapy to restore tafazzin function and treat BTHS, three different adeno-associated virus serotype 9 vectors were tested and compared to identify the optimal promoter-cytomegalovirus (CMV), desmin (Des), or a native tafazzin promoter (Taz)-for TAZ expression following intravenous administration of 1 × 10
Identifiants
pubmed: 30070157
doi: 10.1089/hum.2018.020
pmc: PMC6383582
doi:
Substances chimiques
Transcription Factors
0
Acyltransferases
EC 2.3.-
tafazzin protein, mouse
EC 2.3.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
139-154Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL107406
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL136759
Pays : United States
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