Adeno-Associated Virus-Mediated Gene Therapy for Patients' Fibroblasts, Induced Pluripotent Stem Cells, and a Mouse Model of Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
/ genetics
Animals
Dependovirus
/ genetics
Disease Models, Animal
Fibroblasts
/ metabolism
Genetic Therapy
Induced Pluripotent Stem Cells
/ metabolism
Mice
Mutation
Steroid 11-beta-Hydroxylase
/ genetics
Steroid 17-alpha-Hydroxylase
/ genetics
Steroid 21-Hydroxylase
/ genetics
11β-hydroxylase deficiency
17α-hydroxylase/1720 lyase deficiency
21-hydroxylase deficiency
AAV vector
adrenal injection
congenital adrenal hyperplasia
gene therapy
Journal
Human gene therapy
ISSN: 1557-7422
Titre abrégé: Hum Gene Ther
Pays: United States
ID NLM: 9008950
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
pubmed:
16
7
2022
medline:
19
8
2022
entrez:
15
7
2022
Statut:
ppublish
Résumé
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by steroidogenic enzymes containing monogenetic defects. Most steroidogenic enzymes are cytochrome P450 groups that can be categorized as microsomal P450s, including 21-hydroxylase and 17α-hydroxylase/17,20 lyase, and mitochondrial P450s, including 11β-hydroxylase. It has been shown that ectopic administration of
Identifiants
pubmed: 35838129
doi: 10.1089/hum.2022.005
doi:
Substances chimiques
Steroid 21-Hydroxylase
EC 1.14.14.16
Steroid 17-alpha-Hydroxylase
EC 1.14.14.19
Steroid 11-beta-Hydroxylase
EC 1.14.15.4
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM