Results 11 to 20 of about 3,155 (199)

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report [PDF]

Case Reports in Rheumatology, 2021
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX.
Mohamed Ahmed Ghassem, Aziza Mounach, Julien Djossou, Hamza Toufik, N. El Ouardi, L. Achemlal, Ahmed Bezza   +6 more
openalex   +2 more sources

Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis

Journal of Internal Medicine, 2022
Cerebrotendinous xanthomatosis (CTX) is a rare recessive disease that results from a loss of function of sterol-27-hydroxylase, which then affects bile acid synthesis [1]. This leads to an accumulation of several metabolites, especially cholestanol, with
Jean‐Baptiste Bonnet, Philippe Couvert, M. Di-Filippo, F. Boissière, Jean‐Paul Cristol, Thibault Sutra, David Cheillan, Philippe Moulin, Ariane Sultan   +8 more
openalex   +3 more sources

Cholesterol oxidase from Rhodococcus erythropolis with high specificity toward β-cholestanol and pytosterols

PLoS ONE, 2020
Two genes (choRI and choRII) encoding cholesterol oxidases belonging to the vanillyl-alcohol oxidase (VAO) family were cloned on the basis of putative cholesterol oxidase gene sequences in the genome sequence data of Rhodococcus erythropolis PR4.
Noriyuki Doukyu, Makoto Ishikawa
openalex   +3 more sources

Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum [PDF]

Journal of Biological Chemistry, 2017
Cytochrome P450 27A1 (CYP27A1 or sterol 27-hydroxylase) is a ubiquitous, multifunctional enzyme catalyzing regio- and stereospecific hydroxylation of different sterols.
Natalia Mast, Kyle W. Anderson, Joseph B. Lin, Yong Li, Illarion V. Turko, Curtis Tatsuoka, Ingemar Björkhem, Irina A. Pikuleva   +7 more
openalex   +2 more sources

Presenile Cataract: Consider Cholestanol [PDF]

Archives of Ophthalmology, 2006
Contains fulltext : 50065.pdf (Publisher’s version ) (Closed access)
Alexandra Tészás
openalex   +6 more sources

Metabolism of coprostanol-C14 and cholestanol-4-C14 in man

Journal of Lipid Research, 1963
Coprostanol-C14, biosynthetically prepared, was administered orally to two patients, and cholestanol-4-C14 was administered to one of them 10 months later.
Robert Rosenfeld, Barnett Zumoff, LEON HELLMAN   +2 more
openalex   +3 more sources

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review. [PDF]

Brain Sci, 2023
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase.
Ribeiro RM, Vasconcelos SC, Lima PLGSB, Coelho EF, Oliveira AMN, Gomes EABM, Mota LA, Radtke LS, Carvalho MDS, Araújo DABS, Pinheiro MSN, Gama VCV, Júnior RMM, Braga Neto P, Nóbrega PR.   +14 more
europepmc   +2 more sources

Separation of cholesterol from its companions, cholestanol and Δ7-choleatenol, by thin-layer chromatography

Journal of Lipid Research, 1965
A two-step thin-layer chromatographic procedure is described for separation of cholesterol from its naturally occurring companions. Impregnation of Silica Gel G with silver nitrate retards cholesterol relative to cholestan-3Β-ol and Δ7-cholestenol, which
A S Truswell, W. D. Mitchell
openalex   +3 more sources

On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis Published, JLR Papers in Press, February 26, 2007.

Journal of Lipid Research, 2007
The most serious consequence of sterol 27-hydroxylase deficiency in humans [cerebrotendinous xanthomatosis (CTX)] is the development of cholestanol-containing brain xanthomas.
U. Panzenboeck, U. Andersson, M. Hansson, W. Sattler, S. Meaney, I. Björkhem   +5 more
semanticscholar   +3 more sources

Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia

Journal of Lipid Research, 1994
We investigated the relationship between plasma cholestanol (5 alpha-dihydrocholesterol) concentrations and the activity and mRNA levels of cholesterol 7 alpha-hydroxylase, the rate-controlling enzyme for bile acid synthesis, in three female ...
G Salen, A K Batta, G S Tint, Sarah Shefer, G C Ness   +4 more
openalex   +3 more sources