Results 1 to 10 of about 8,770 (132)

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature [PDF]

Frontiers in Pediatrics, 2021
Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1–2% of cases of neonatal cholestasis.
Patryk Lipiński, Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska   +8 more
doaj   +2 more sources

Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice. [PDF]

JPGN Rep
Abstract Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27‐hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease.
DeBarber AE, Fowler M, Barton Duell P, Dybbro E.   +3 more
europepmc   +2 more sources

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis [PDF]

BMC Neurology, 2011
Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
Tian Di, Zhang Zai-qiang
doaj   +2 more sources

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACTBile acid Coenzyme A: amino acid N‐acyltransferase (BAAT) catalyzes the conjugation of bile acids with taurine or glycine, a process essential for bile acid solubility and intestinal lipid absorption. Mutations in BAAT cause an inborn error of bile acid metabolism, typically characterized by reduced conjugated bile acids and fat‐soluble vitamin
Koga S, Takei H, Tamura R, Takaki Y, Kusuhara H, Nittono H, Hayashi H.   +6 more
europepmc   +2 more sources

The Bile Acid Signaling Axis: Deciphering the Roles of FXR and TGR5 in Hepatic Steatosis, Fibrosis, and Cancer. [PDF]

Pharmacol Res Perspect
ABSTRACT Bile acids (BAs) serve not only as emulsifiers for lipid digestion but also as essential signaling molecules, governing various physiological and pathological processes through their interaction with the farnesoid X receptor (FXR) and the takeda G protein‐coupled receptor 5 (TGR5).
Liu J, Sun K, Liu H, Zhu M, Li C, He Y, Qin L.   +6 more
europepmc   +2 more sources

Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX [PDF]

Orphanet Journal of Rare Diseases
Background Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder caused by variants in CYP27A1 leading to loss of sterol-27-hydroxylase activity.
Monte A. Del Monte, Jennifer Hanson, Penelope E. Bonnen   +2 more
doaj   +2 more sources

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis [PDF]

Orphanet Journal of Rare Diseases, 2010
Article abstract Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene) cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendons, lenses and the ...
Garuti Rita, Vogel Hans-Peter, Lingesleben Alexandra, Schneider Hauke, Calandra Sebastiano   +4 more
doaj   +2 more sources

Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7α-hydroxylase and 27-hydroxylase activities in rat liver

Journal of Lipid Research, 1999
The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3β-hydroxysterol Δ7-reductase, the final enzyme in the cholesterol biosynthetic pathway.
Akira Honda, Gerald Salen, Sarah Shefer, Ashok K. Batta, Megumi Honda, Guorong Xu, G. Stephen Tint, Yasushi Matsuzaki, Junichi Shoda, Naomi Tanaka   +9 more
doaj   +1 more source

Sterol 27-hydroxylase: expression in human arterial endothelium

Journal of Lipid Research, 1997
Human endothelium obtained from both the aorta and the pulmonary artery has been evaluated for the presence of the messenger RNA coding for the expression of sterol 27-hydroxylase.
A B Reiss, K O Martin, D E Rojer, S Iyer, E A Grossi, A C Galloway, N B Javitt   +6 more
doaj   +1 more source

Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).

Journal of Lipid Research, 1994
Cerebrotendinous xanthomatosis (CTX) is a hereditary sterol storage disease associated with accumulation of cholesterol and cholestanol in various tissues, especially tendons and neural tissues.
K S Kim, S Kubota, M Kuriyama, J Fujiyama, I Björkhem, G Eggertsen, Y Seyama   +6 more
doaj   +1 more source