Results 71 to 80 of about 9,389 (199)

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, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.

, 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, Mabuchi, Hiroshi, Nozue, Tsuyoshi, Higashikata, Toshinori, Yamagishi, Masakazu, Inazu, Akihiro, Nohara, Atsushi, Koizumi, Junji, Kawashiri, Masa-aki   +8 more
core   +2 more sources

Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol

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, Lena Starck, Ulla Andersson, Dieter Lütjohann, Sara von Bahr, Irina Pikuleva, Amir Babiker, Ulf Diczfalusy   +7 more
doaj   +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., Steenbergen-Spanjers, G.C.H., Luyten, J.A.F.M., Heuvel, L.P.W.J. van den, Keyser, A., Gabreëls, F.J.M., Wevers, R.A.   +6 more
openaire   +4 more sources

The proteomic differences and expression of fatty acid‐binding protein 6 (FABP6) associated with gastrointestinal injury in horses with oral administration of a clinical dose of phenylbutazone

Equine Veterinary Journal, Volume 58, Issue 3, Page 845-856, May 2026.
Abstract Background Phenylbutazone (PBZ) can potentially induce gastrointestinal ulceration, and early detection of PBZ‐induced gastroenteropathy will be useful for the diagnosis, treatment, and prevention of PBZ toxicity. Objectives To identify putative proteins associated with equine gastric ulcer syndrome after clinical dose (4.4 mg/kg ...
Ruethaiwan Vinijkumthorn, Nawarus Prapaiwan, Thanapon Chotikaprakal, Phirom Prompiram, Narumon Phaonakrop, Sittiruk Roytrakul, Parichart Tesena   +6 more
wiley   +1 more source

Сerebrotendinous xanthomatosis

Анналы клинической и экспериментальной неврологии, 2017
Cerebrotendinous xanthomatosis is a rare autosomal recessivedisorder of cholesterol and bile acid metabolism associated withthe sterol 27-hydroxylase gene CYP27A1.
G. E. Rudenskaya, E. Yu. Zakharova
doaj   +1 more source

Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings

Archives of Medicine and Health Sciences, 2020
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of effective bile acid biosynthesis (adult lipid storage disorder with the underlying mutation in the CYP27 gene, which encodes sterol 27-hydroxylase, a key enzyme in the ...
S Sheetal, P Byju
doaj   +1 more source

High cholesterol absorption efficiency interferes with bile acid metabolism and cholesterol elimination from the body

Journal of Internal Medicine, Volume 299, Issue 5, Page 628-638, May 2026.
Abstract Background Elevated low‐density lipoprotein (LDL) cholesterol causes atherosclerotic cardiovascular diseases. Variables of whole‐body cholesterol metabolism, for example, high cholesterol absorption efficiency, might also be atherogenic, whereas the role of bile acids is controversial.
Piia Simonen, Ingmar Wester, Jyri Lommi, Juha Sinisalo, Helena Gylling   +4 more
wiley   +1 more source

Liver mitochondrial P450 involved in cholesterol catabolism and vitamin D activation.

Journal of Lipid Research, 1994
The isolation, purification, and cloning of the mitochondrial P450 enzyme catalyzing not only the 27-hydroxylation of 5 beta-cholestane-3 alpha, 7 alpha-diol and cholestane-3 alpha, 7 alpha, 12 alpha-triol, but also the 25-hydroxylation of vitamin D3 are
K I Okuda
doaj   +1 more source

Role of reactive oxygen species in regulating 27-hydroxycholesterol-induced apoptosis of hematopoietic progenitor cells and myeloid cell lines

Cell Death and Disease, 2022
Oxysterols are oxygenated derivatives of cholesterol that contain an additional hydroxy, epoxide, or ketone group in the sterol nucleus and/or a hydroxyl group in the side chain of the cholesterol molecule.
Soo-Yeon Woo, Hansong Lee, Su Min Park, Hee-Seon Choi, Jayoung Kim, Munju Kwon, Jihyung Sohn, Ji Ho Nam, Hyung-Sik Kim, Parkyong Song, Ninib Baryawno, Yun-Hak Kim, Koanhoi Kim, Dongjun Lee   +13 more
doaj   +1 more source