On the substrate specificity of human CYP27A1 [PDF]
Journal of Lipid Research, 2003 The mitochondrial sterol 27-hydroxylase (CYP27A1) is required for degradation of the C27-sterol side chain in bile acid biosynthesis. CYP27A1 seems, however, to have roles beyond this, as illustrated by patients with a deficient sterol 27-hydroxylase due
Maria Norlin +3 more
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Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving <i>CYP27A1(C.526del)</i>. [PDF]
JCEM Case RepRoy A, Roy SK, Das S.
europepmc +5 more sources
Optimization of CYP27A1 recombinant protein expression. [PDF]
Protein Expr PurifPapa JE +5 more
europepmc +4 more sources
Metabolism of Lumisterol2 by CYP27A1
The Journal of Steroid Biochemistry and Molecular Biology, 2023 Lumisterol2 (L2) is a photoproduct of UVB action on the fungal membrane sterol, ergosterol. Like vitamin D2, it is present in edible mushrooms, especially after UV irradiation. Lumisterol3 is similarly produced in human skin from 7-dehydrocholesterol by UVB and can be converted to hydroxy-metabolites by CYP27A1 and CYP11A1.
Dongxian Wu +5 more
semanticscholar +4 more sources
CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report
World Journal of Clinical Cases, 2022 BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by mutations in CYP27A1. It has a low incidence rate, insidious onset, and diverse clinical manifestations.
Zhao-Ran Li +4 more
semanticscholar +4 more sources
Allergology International, 2023 Background: 27-Hydroxycholesterol (27-HC) derived from sterol 27-hydroxylase (CYP27A1) has pro-inflammatory biological activity and is associated with oxidative stress and chronic inflammation in COPD.
Tatsunori Ito +14 more
doaj +2 more sources
Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy [PDF]
Biomedicines, 2023 Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene.
Petar Brlek +8 more
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Bile acid homeostasis in female mice deficient in Cyp7a1 and Cyp27a1
Acta Pharmaceutica Sinica B, 2021 Bile acids (BAs) are amphipathic molecules important for metabolism of cholesterol, absorption of lipids and lipid soluble vitamins, bile flow, and regulation of gut microbiome. There are over 30 different BA species known to exist in humans and mice, which are endogenous modulators of at least 6 different membrane or nuclear receptors.
Daniel Rizzolo +6 more
semanticscholar +5 more sources
Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia [PDF]
Frontiers in Neurology, 2023 Background Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the CYP27A1 gene. Due to the disruption of bile acid synthesis leading to cholesterol and cholestanol accumulation, CTX manifests ...
Min Young Chun +11 more
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27-Hydroxylation of oncosterone by CYP27A1 switches its activity from pro-tumor to anti-tumor
Journal of Lipid Research, 2023 Oncosterone (6-oxo-cholestane-3β,5α-diol; OCDO) is an oncometabolite and a tumor promoter on estrogen receptor alpha-positive breast cancer (ER(+) BC) and triple-negative breast cancers (TN BC). OCDO is an oxysterol formed in three steps from cholesterol:
Silia Ayadi +7 more
doaj +2 more sources