Results 1 to 10 of about 1,764 (168)

Cholestanol promotes tau pathology in a mouse model of tauopathy [PDF]

Cellular and Molecular Life Sciences
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease characterized by the accumulation of cholestanol. CTX patients often suffer from cognitive impairment.
Zhentao Zhang, Shuke Nie, Lanxia Meng
exaly   +3 more sources

Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition

Journal of Lipid Research, 2007
To study the metabolism of cholestanol in patients with cerebrotendinous xanthomatosis (CTX), we measured the cholestanol absorption, the cholesterol and cholestanol turnover, and the tissue content of sterols in two patients. Cholestanol absorption was ∼
William E Connor, Ashim K Bhattacharyya
exaly   +3 more sources

Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis

Neurología (English Edition), 2011
Introduction: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase.
Adriano Jimenez-Escrig
exaly   +3 more sources

Cholestanol accelerates α-synuclein aggregation and spreading by activating asparagine endopeptidase [PDF]

JCI Insight, 2023
Cerebrotendinous xanthomatosis (CTX), an autosomal recessive disorder characterized by high levels of cholestanol in the blood and accumulation of cholestanol in multiple tissues, especially the brain, often presents in parkinsonism.
Ting Yu, Shuke Nie, Lihong Bu, Miao Liu, Juanfeng He, Xuan Niu, Hongyan Feng, Jifeng Guo, Beisha Tang, Zhaohui Zhang, Keqiang Ye, Haiqiang Jiang, Liam Chen, Zhentao Zhang   +13 more
doaj   +2 more sources

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

Brain Sciences, 2023
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase.
Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, Pedro Lucas Grangeiro de Sá Barreto Lima, Emanuel Ferreira Coelho, Anna Melissa Noronha Oliveira, Emanuel de Assis Bertulino Martins Gomes, Luciano de Albuquerque Mota, Lucas Soares Radtke, Matheus dos Santos Carvalho, David Augusto Batista Sá Araújo, Maria Suelly Nogueira Pinheiro, Vitor Carneiro de Vasconcelos Gama, Renan Magalhães Montenegro Júnior, Pedro Braga Neto, Paulo Ribeiro Nóbrega   +14 more
doaj   +2 more sources

Presenile Cataract: Consider Cholestanol [PDF]

Archives of Ophthalmology, 2006
Contains fulltext : 50065.pdf (Publisher’s version ) (Closed access)
Teszas, A., Pfund, Z., Morava, E., Kosztolanyi, G.Y., Sistermans, E.A., Wevers, R.A., Kellermayer, R.   +6 more
openaire   +5 more sources

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

Orphanet Journal of Rare Diseases, 2022
Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most common findings in
Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar   +10 more
doaj   +1 more source

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, S Shefer, G C Ness   +4 more
doaj   +1 more source

On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis

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.
Panzenboeck Ute, Andersson Ulla, Hansson Magnus, Sattler Wolfgang, Meaney Steve, Björkhem Ingemar   +5 more
doaj   +1 more source

On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase

Journal of Lipid Research, 2010
The rare disease cerebrotendinous xanthomatosis (CTX) is due to a lack of sterol 27-hydroxylase (CYP27A1) and is characterized by cholestanol-containing xanthomas in brain and tendons. Mice with the same defect do not develop xanthomas. The driving force
Ann Båvner, Marjan Shafaati, Magnus Hansson, Maria Olin, Shoshi Shpitzen, Vardiella Meiner, Eran Leitersdorf, Ingemar Björkhem   +7 more
doaj   +1 more source