Results 1 to 10 of about 2,254 (206)

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, Lanxia Meng, Nie Shuke
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   +4 more sources

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy [PDF]

Health Science Reports
Background and Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27‐hydroxylase activity.
Laiba Jalal, Areeba Aamir Ali Basaria, Hermann Yokolo   +2 more
doaj   +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 ∼
A K Bhattacharyya, D S Lin, William E Connor   +2 more
exaly   +3 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   +6 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

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

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   +3 more sources

Cerebrotendinous xanthomatosis: a literature review and case study [PDF]

Frontiers in Cardiovascular Medicine
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX.
Anthony Matta, Anthony Matta, Fabienne Ory Magne, Thierry Levade, Fabrice Bonneville, Jean Ferrières   +5 more
doaj   +2 more sources

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome [PDF]

Journal of Lipid Research
Disease-specific sterols accumulate in the blood of patients with several rare lipid disorders. Biochemical measurement of these sterols is important for correct diagnosis and sometimes monitoring of treatment.
Alexander Bauer Westbye, Lili L. Dizdarevic, Sandra R. Dahl, Emil Andreas Asprusten, Yngve Thomas Bliksrud, Anita Lövgren Sandblom, Ulf Diczfalusy, Per M. Thorsby, Kjetil Retterstøl   +8 more
doaj   +2 more sources

Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy [PDF]

Orphanet Journal of Rare Diseases
Cerebrotendinous xanthomatosis (CTX) is a rare treatable bile acid disorder caused by homozygous or compound heterozygous variants in CYP27A, a gene that encodes the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1). CYP27A1 facilitates the production
Gary Pasternack, Jeff Courtney, Gurdyal Kalsi   +2 more
doaj   +2 more sources