Results 21 to 30 of about 5,139 (246)

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

Health Sci Rep
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.
Jalal L, Basaria AAA, Yokolo H.
europepmc   +2 more sources

Use of dansyl-cholestanol as a probe of cholesterol behavior in membranes of living cells [PDF]

Journal of Lipid Research, 2009
While plasma membrane cholesterol-rich microdomains play a role in cholesterol trafficking, little is known about the appearance and dynamics of cholesterol through these domains in living cells.
Huan Huang, Avery L. McIntosh, Barbara P. Atshaves, Yoshiko Ohno‐Iwashita, Ann B. Kier, Friedhelm Schroeder   +5 more
openalex   +2 more sources

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

Front Cardiovasc Med
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.
Matta A, Ory Magne F, Levade T, Bonneville F, Ferrières J.   +4 more
europepmc   +2 more sources

Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis.

Journal of Lipid Research, 1985
We have measured plasma sterol composition in 14 subjects with sitosterolemia and xanthomatosis. In addition to elevated plasma phytosterol (campesterol 16 +/- 7 mg/dl and sitosterol 35 +/- 16 mg/dl) and normal to moderately high cholesterol levels (258 +
G Salen, Peter O. Kwiterovich, Sarah Shefer, G S Tint, Ivan D. Horak, Virgie G. Shore, B. Dayal, Eva Horak   +7 more
openalex   +3 more sources

Biosynthesis of cholesterol, lanosterol, and delta 7-cholestenol, but not cholestanol, in cultured fibroblasts from normal individuals and patients with cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1982
The cholesterol and cholestanol biosynthetic pathways and the control of cholesterolgenesis were investigated in skin fibroblasts, from patients with cerebrotendinous xanthomatosis (CTX) and from normal subjects, growth in a lipoprotein deficient (d less
G S Tint, G Salen
openalex   +3 more sources

Conversion of cholesterol injected into man to cholestanol via a 3-ketonic intermediate

Journal of Lipid Research, 1967
Cholesterol-3-3H,4-14C was injected intravenously in man and its transformation to cholestanol was studied. From the 3H:14C ratios in cholestanol isolated from blood, evidence for the participation of a ketonic intermediate in the conversion was obtained.
Robert Rosenfeld, Barnett Zumoff, LEON HELLMAN   +2 more
openalex   +3 more sources

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

J Lipid Res
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.
Westbye AB, Dizdarevic LL, Dahl SR, Asprusten EA, Bliksrud YT, Sandblom AL, Diczfalusy U, Thorsby PM, Retterstøl K.   +8 more
europepmc   +2 more sources

Synthesis of 24-heteroatom-substituted cholestanols

Journal of Lipid Research, 1988
Short syntheses of 24-thia-5 alpha,20 xi-cholestan-3 beta-ol, 24-methyl-24-aza-5 alpha,20 xi-cholestan-3 beta-ol, and 24-nor-5 alpha,20 xi-cholan-3 beta-ol from 3 beta-hydroxy-5 alpha-pregnan-20-one are described. The products and synthetic intermediates have been fully characterized by the results of proton NMR, infrared, and high and low resolution ...
M D Rahman, Hans‐Joachim Seidel, Robert A. Pascal   +2 more
openalex   +4 more sources

Synthesis of conjugated cholesterol and cholestanols.

Chemical and Pharmaceutical Bulletin, 1979
The glucuronides, sulfates, glucosides and N-acetylglucosaminides of cholesterol and epimeric 5α-cholestan-3-ols have been synthesized. The formation of a β-glucoside linkage was readily achieved by means of the Koenigs-Knorr reaction with the corresponding α-acetohalosugar, employing cadmium carbonate as a catalyst.
Junichi Goto, Kazuhiko Suzaki, Toshio Nambara   +2 more
openalex   +3 more sources

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

Orphanet J Rare Dis
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
Pasternack G, Courtney J, Kalsi G.
europepmc   +2 more sources