[HTML][HTML] Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27−/− mice and CTX

A Honda, G Salen, Y Matsuzaki, AK Batta, G Xu… - Journal of Lipid …, 2001 - ASBMB
Cerebrotendinous xanthomatosis (CTX) is a rare, recessively inherited lipid storage disease
characterized by a markedly reduced production of chenodeoxycholic acid and an
increased formation of 25-hydroxylated bile alcohols and cholestanol. Patients with this
disease are known to have mutations in the sterol 27-hydroxylase (Cyp27) gene. However,
one study showed that mice with a disrupted Cyp27 gene did not have any CTX-related
clinical or biochemical abnormalities. To explore the reason, hepatic cholesterol …