Cholestanol promotes tau pathology in a mouse model of tauopathy [PDF]
Cellular and Molecular Life SciencesCerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease characterized by the accumulation of cholestanol. CTX patients often suffer from cognitive impairment.
Ting Yu +6 more
doaj +2 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 +13 more
doaj +2 more sources
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 ∼
Ashim K. Bhattacharyya +2 more
exaly +3 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 +14 more
doaj +2 more sources
Cerebrotendinous xanthomatosis: a literature review and case study [PDF]
Frontiers in Cardiovascular MedicineCerebrotendinous 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 +5 more
doaj +2 more sources
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.
Ute Panzenboeck, Steve Meaney
exaly +3 more sources
FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy [PDF]
Health Science ReportsBackground 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 +2 more
doaj +2 more sources
A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome [PDF]
Journal of Lipid ResearchDisease-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 +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 DiseasesCerebrotendinous 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 +2 more
doaj +2 more sources
7α-Hydroxylation of cholestanol by rat liver microsomes
Journal of Lipid Research, 1968 In a study of the mechanism whereby 5α-bile acids are formed from cholestanol, the 7α-hydroxylation of cholestanol was investigated in rat liver preparations in vitro.
Sarah Shefer +2 more
doaj +2 more sources