In CTX, the major bile acid synthesis pathways are disrupted due to partial or total deficiency in sterol 27-hydroxylase encoded by the CYP27A1 gene, resulting in the body’s inability to break down ...

Feb. 24, 2025 – The FDA has approved a new pill for adults with cerebrotendinous xanthomatosis (CTX), a rare genetic disease that makes it hard for the body to handle cholesterol properly.

Ctexli becomes the first FDA-approved drug to treat CTX, which is a rare lipid storage disease that is caused by a mutation in the CYP27A1 gene (1). This results in a deficiency of an enzyme that is ...

CTX is caused by mutations in the CYP27A1 gene, which under healthy circumstances encode for an enzyme that breaks down cholesterol into bile acids. Ctexli, an orally available drug, is Mirum’s answer ...

Caused by a mutation in the cytochrome P450 family 27 subfamily A member 1 (CYP27A1) gene, CTX leads to a deficiency of an enzyme that is crucial for fat breakdown. This results in abnormal ...

CTX is a genetic metabolic disorder caused by a mutation in a gene called CYP27A1, resulting in a deficiency of the enzyme that is important to the body's ability to break down fats. Ctexli ...

In CTX, the major bile acid synthesis pathways are disrupted due to partial or total deficiency in sterol 27-hydroxylase encoded by the CYP27A1 gene, resulting in the body’s inability to break ...

Today's approval provides a safe and effective treatment option for CTX." CTX is a genetic metabolic disorder caused by a mutation in a gene called CYP27A1 resulting in a deficiency of the enzyme that ...

Concept: Transcriptomic and pharmacologic studies define a CYP27A1–LXR–TLS signaling axis in intestinal repair. Impact: This study delineates a critical node at the nexus between repair and ...

CTX is a rare neurodegenerative disease caused by mutations in the CYP27A1 gene, which affect the body's ability to metabolize cholesterol and bile acids. It is characterized by a buildup of ...

Both, weakly associated (CPR and FdR) and tightly associated (CYP7B1, CYP11A1, CYP27A1, and CYP46A1) membrane proteins were quantified. Measurements were performed on three human tissues (temporal ...

Find more information on the Altmetric Attention Score and how the score is calculated. Cytochrome P450 27A1 (P450 27A1 or CYP27A1) is an important enzyme that participates in different pathways of ...