Results 51 to 60 of about 2,722,655 (194)
Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis. [PDF]
, 2010 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. We analyzed the CYP27A1 gene in two Japanese CTX patients.
Kobayashi, Junji +8 more
core +2 more sources
A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
Journal of Investigative Medicine High Impact Case Reports, 2023 Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid.
Hamed Ghoshouni MD +4 more
doaj +1 more source
The FASEB Journal, Volume 40, Issue 17, 15 September 2026.Dietary components shape the gut microbiome, which modifies bile acids through transformations. The resulting bile acid pool is sensed by host receptors to regulate immunity, metabolism, and intestinal function. Targeted bile acid measurements provide a unifying readout to study diet‐microbiome interactions and to develop next‐generation dietary ...
Jason Dichter
wiley +1 more source
Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis [PDF]
Human Genetics, 1996 This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon.
Verrips, A. +6 more
openaire +4 more sources
, 1995 In previous work we have demonstrated suppression of cholesterol 7α-hydroxylase by bile acids at the level of mRNA and transcription, resulting in a similar decline in bile acid synthesis in cultured rat hepatocytes.
Twisk, J. +2 more
core +1 more source
Cholesterol and 27-hydroxycholesterol 7 alpha-hydroxylation: evidence for two different enzymes.
Journal of Lipid Research, 1993 The use of 2-hydroxypropyl-beta-cyclodextrin as a vehicle for solubilizing cholesterol and 27-hydroxycholesterol has led to a study of their rates of 7 alpha-hydroxylation in microsomal preparations from hamster liver and HepG2 cells.
KO Martin, K Budai, NB Javitt
doaj +1 more source
Reciprocal control of viral infection and phosphoinositide dynamics
FEBS Letters, Volume 600, Issue 17, Page 2526-2546, September 2026.Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley +1 more source
, 1996 Sterol 27-hydroxylase plays an important role in cholesterol metabolism in hepatic and extrahepatic tissues. To determine whether female sex steroid hormones influence its expression, we measured plasma and hepatic 27-hydroxycholesterol ...
Henry C. McGill +3 more
core +1 more source
Journal of Lipid Research, 2001 Infants with the cholesterol synthesis defect Smith-Lemli-Opitz syndrome (SLO) have reduced activity of the enzyme 7-dehydrocholesterol-7-reductase and accumulate 7-dehydrocholesterol, with the highest concentration in the brain.
Ingemar Björkhem +7 more
doaj +1 more source
Advanced Science, Volume 13, Issue 54, 28 September 2026.A multi‐omics framework combining multitissue genome‐wide association studies, metabolomics, transcriptomics, proteomics, and functional validation uncovers the genetic basis of specialized metabolism in quinoa. The study identifies hundreds of metabolite‐associated loci, prioritizes candidate genes for saponin, betalain, and flavonoid biosynthesis ...
Julia von Steimker +11 more
wiley +1 more source