Results 61 to 70 of about 5,510 (174)
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
JIMD Reports, 2021 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase.
Adam J. Guenzel +3 more
doaj +1 more source
Journal of Lipid Research, 2021 Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aimed to
Philip Höflinger +14 more
doaj +1 more source
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +1 more source
Sleep Research, Volume 3, Issue 2, Page 170-179, June 2026.Abstract The bidirectional interplay between sleep and metabolic homeostasis is fundamental to physiological health. While the roles of glucose and lipid metabolism in sleep regulation have been extensively characterized, bile acids (BAs), which are traditionally viewed as digestive surfactants, are emerging as critical metabolic messengers with ...
Yu Jiang +4 more
wiley +1 more source
Clinical Epigenetics, 2018 Background A variety of abnormalities in vitamin D metabolism have been reported in patients with active tuberculosis. However, intervention trials have produced inconsistent results.
Min Wang +6 more
doaj +1 more source
Journal of Neurochemistry, Volume 170, Issue 6, June 2026.Brain cholesterol homeostasis is tightly regulated and largely independent of peripheral cholesterol. This review proposes a unifying framework in which aging, sex, and related biological stressors, including hypercholesterolemia, neurodegeneration, inflammation, and oxidative stress, converge to disrupt cholesterol homeostasis in the brain ...
Myuri Ruthirakuhan +2 more
wiley +1 more source
Biosynthesis of the regulatory oxysterol, 5-cholesten-3β,25-diol 3-sulfate, in hepatocytes
Journal of Lipid Research, 2007 Cellular cholesterol homeostasis is maintained through coordinated regulation of cholesterol synthesis, degradation, and secretion. Nuclear receptors for oxygenated cholesterol derivatives (oxysterols) are known to play key roles in the regulation of ...
Xiaobo Li +6 more
doaj +1 more source
GLP‐1 agonists and the gut microbiome: A bidirectional relationship
British Journal of Clinical Pharmacology, Volume 92, Issue 5, Page 1309-1325, May 2026.Abstract Glucagon‐like peptide‐1 (GLP‐1) receptor agonists have transformed the management of type 2 diabetes mellitus (T2DM) and obesity, yet their interactions with the gut microbiome remain an emerging frontier in pharmacological and metabolic research.
Srinivas Kamath +2 more
wiley +1 more source
Four novel CYP27A1 mutations in seven Italian patients with CTX
, 2010 BACKGROUND AND PURPOSE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, because of sterol 27-hydroxylase deficiency. Clinical manifestations of CTX are tendon xanthomas, juvenile cataracts, osteoporosis, diarrhoea and ...
Mignarri, A. +6 more
core +1 more source
Haseki Tıp BülteniCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme.
Eser Bulus, Sahin Avci, F. Feriha Ozer
doaj +1 more source