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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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2021-09-01
Edice:	Molecular Therapy: Methods & Clinical Development
Témata:	cerebrotendinous xanthomatosis CTX adeno-associated virus gene therapy chenodeoxycholic acid cholestanol
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2329050121001194
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