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

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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Bibliografische gegevens
Hoofdauteurs: Sara Lumbreras, Ana Ricobaraza, Lucia Baila-Rueda, Manuela Gonzalez-Aparicio, Lucia Mora-Jimenez, Iker Uriarte, Maria Bunuales, Matias A. Avila, Maria J. Monte, Jose J.G. Marin, Ana Cenarro, Gloria Gonzalez-Aseguinolaza, Ruben Hernandez-Alcoceba
Formaat: Artikel
Taal:English
Gepubliceerd in: Elsevier 2021-09-01
Reeks:Molecular Therapy: Methods & Clinical Development
Onderwerpen:
cerebrotendinous xanthomatosis
CTX
adeno-associated virus
gene therapy
chenodeoxycholic acid
cholestanol
Online toegang:http://www.sciencedirect.com/science/article/pii/S2329050121001194

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http://www.sciencedirect.com/science/article/pii/S2329050121001194

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