Results 111 to 120 of about 2,254 (206)

Differences in uptake and esterification of saturated analogues of cholesterol by rat small intestine

, 1986
Coprostanol and cholestanol are two saturated analogues of cholesterol. The former, which is the A/B ring isomer of cholesterol, is a nonabsorbable sterol, whereas the latter, which has an A/B ring configuration closer to that of cholesterol, is ...
A. K. Bhattacharyya
core   +1 more source

A rare disease gets a breakthrough: Ctexli approved for cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, leading to sterol 27-hydroxylase deficiency and cholestanol accumulation.
Mustafa, Muhammad, Ahmud, Mohammud W., Asim, Wajiha   +2 more
core   +1 more source

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals

Objective: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings.
YILDIZ, YILMAZ, Eminoğlu, Fatma Tuba, Teke Kısa, Pelin, Göksoy, Emine, Yalcin-Cakmakli, Guel, Ersoy, Melike, Özer, Işıl, Yıldız, YILMAZ, Yıldız, Yılmaz, Kıykım, Ertuğrul, Kasapkara, Çiğdem Seher, İNCİ, ASLI, YAZICI, HAVVA, Durmus, Asli, Durmuş, Aslı, Hanağası, Haşmet Ayhan, Balcı, Mehmet Cihan, Yalçın-Çakmaklı, Gül, Canda, Ebru, Hanagasi, Hasmet Ayhan, Zübarioğlu, Tanyel, Erdöl, Şahin, KIYKIM, ERTUĞRUL, TEKE KISA, PELİN, Gündüz, Ayşegül, Öztürk-Hişmi, Burcu, Akgun, Abdurrahman, Köse, Engin, Akçalı, Aylin, ÖZTÜRK HİŞMİ, BURCU, Güneş, Dilek, Aktuğlu-Zeybek, Çiğdem, Yazıcı, Havva, Balci, Mehmet Cihan, Arslan, Nur, Çilesiz, Kübra, AKÇALI, AYLİN, Akar, Halil Tuna, İnci, Aslı, Bulut, Fatma Derya, Dorum, Sevil, Soyuçen, Erdoğan, Kılıç-Yıldırım, Gonca, KILIÇ YILDIRIM, GONCA, Kısa, Pelin Teke   +44 more
core   +2 more sources

Effect of 1,4-Dioxane Solvent on β-Glucuronidation Using Methyl 1,2,3,4-Tetra- O-acetyl- β- D-glucuronate as the Glycosyl Donor

A facile and selective beta - D -glucuronidation of alcohols, such as ( - )-menthol, cholestanol, ( + )- and ( - )-bor- neols, and 2-adamantanol, using commercially available methyl 1,2,3,4-tetra- O -acetyl- beta - D -glucuronate as the glycosyl donor ...
Matsushima, Yasuyuki, Miura, Tsuyoshi, Kajimoto, Tetsuya, Kaneko, Kimiyoshi, Du, Tianqi   +4 more
core   +1 more source

Cerebrotendinous xanthomatosis in seven Hong Kong Chinese

, 2014
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease characterized by the accumulation of cholestanol and cholesterol, leading to xanthomas and neurological symptoms.
Yuen, M, Tam, SCF, Lam, KSL, Tan, KCB, Fong, CHY, Chow, WS   +5 more
core  

Cholestanol and Plant Sterols in the Adrenal Gland of the Rat. [PDF]

Acta Chemica Scandinavica, 1967
Tatu A. Miettinen, Jörgen Albertsson, Åke Alnås, Sten Hemmingsson, Lennart Kullberg, R. Blinc, S. Paušak, L. Ehrenberg, J. Dumanović   +8 more
openaire   +2 more sources

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches. [PDF]

Neurogenetics
Ďurina P, Bandura A, Chandoga J, Juhosová M, Repiský M, Jungová P, Roháľová J, Jarásková D, Pohorelská V, Dallemule S, Mattošová S, Brennerová K, Okaľová K, Bohuniczky I, Böhmer D.   +14 more
europepmc   +1 more source

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond. [PDF]

Metab Brain Dis
Calisgan K, Zubarioglu T, İsat E, Babazade H, Akca-Yesil S, Akbulut S, Uygur E, Keskin V, Cirkin B, Durcan G, Dogangun B, Cansever MS, Aktuglu-Zeybek AC, Kiykim E.   +13 more
europepmc   +1 more source

Synthesis of model compounds for the investigation of biomarker’s thermal behaviour

, 2006
1894-1899The model compounds, which are used to investigate the organic structure and thermal behaviour of fossil fuels, have been synthesized starting from 4-hydroxybenzyl thiocholesterol, 4-hydroxybenzyl cholesterol and 4-hydroxybenzyl ...
Talınlı, Naciye, Sirkecioğlu, Okan, Karlığa, Bekir, Snape, Colin   +3 more
core  

Identification of hydroxyapatite spherules provides new insight into subretinal pigment epithelial deposit formation in the aging eye.

, 2015
Accumulation of protein- and lipid-containing deposits external to the retinal pigment epithelium (RPE) is common in the aging eye, and has long been viewed as the hallmark of age-related macular degeneration (AMD).
Flinn, JM, Lanzirotti, A, McPhail, DS, Fearn, S, Ueffing, M, Boldt, K, Ratu, SG, Lengyel, I, Thompson, RB, Kortvely, E, Pauleikhoff, L, Bird, AC, Reffatto, V, Bundy, JG, Jones, EA   +14 more
core