Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene, encoding the sterol 27-hydroxylase. Disruption of the bile acid biosynthesis pathway and accumulation of toxic precursors such as cholestanol cause chronic diarrhea, bilateral juvenile cat...

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Detalles Bibliográficos
Autores principales: Lumbreras, Sara, Ricobaraza, Ana, Baila-Rueda, Lucia, Gonzalez-Aparicio, Manuela, Mora-Jimenez, Lucia, Uriarte, Iker, Bunuales, Maria, Avila, Matias A., Monte, Maria J., Marin, Jose J.G., Cenarro, Ana, Gonzalez-Aseguinolaza, Gloria, Hernandez-Alcoceba, Ruben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8399082/
https://www.ncbi.nlm.nih.gov/pubmed/34485606
http://dx.doi.org/10.1016/j.omtm.2021.07.002

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