Results 51 to 60 of about 10,369 (237)

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

Health Sci Rep
ABSTRACT 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. This enzyme is critical for bile acid synthesis, and its dysfunction results in reduced chenodeoxycholic acid (CDCA) levels and subsequent accumulation of ...
Jalal L, Basaria AAA, Yokolo H.
europepmc   +2 more sources

Activity of 25-hydroxylase in human gingival fibroblasts and periodontal ligament cells. [PDF]

PLoS ONE, 2012
We previously demonstrated that 25-hydroxyvitamin D(3) concentrations in gingival crevicular fluid are 300 times higher than those in the plasma of patients with aggressive periodontitis. Here we explored whether 25-hydroxyvitamin D(3) can be synthesized
Kaining Liu, Huanxin Meng, Jianxia Hou
doaj   +1 more source

CYP27A1 Loss Dysregulates Cholesterol Homeostasis in Prostate Cancer [PDF]

Cancer Research, 2017
Abstract In this study, we used a bioinformatic approach to identify genes whose expression is dysregulated in human prostate cancers. One of the most dramatically downregulated genes identified encodes CYP27A1, an enzyme involved in regulating cellular cholesterol homeostasis.
Mahmoud A, Alfaqih, Erik R, Nelson, Wen, Liu, Rachid, Safi, Jeffery S, Jasper, Everardo, Macias, Joseph, Geradts, J Will, Thompson, Laura G, Dubois, Michael R, Freeman, Ching-Yi, Chang, Jen-Tsan, Chi, Donald P, McDonnell, Stephen J, Freedland   +13 more
openaire   +2 more sources

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia [PDF]

Neurological Sciences, 2014
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder, due to mutations of the CYP27A1 gene, leading to cholestanol accumulation because of the sterol27-hydroxylase enzyme deficiency [1]. Treatment with chenodeoxycholic acid (CDCA) normalizes cholestanol and improves neurophysiological findings.
Mandrile G, GALLUS, GIAN NICOLA, Mura G, Di Sapio A, Sotgiu MA, Montella A, Giachino DF, DOTTI, MARIA, Ulgheri L, FEDERICO, ANTONIO   +9 more
openaire   +5 more sources

Genetic obesity increases pancreatic expression of mitochondrial proteins which regulate cholesterol efflux in BRIN-BD11 insulinoma cells [PDF]

, 2019
Pancreatic β-cells are sensitive to fluctuations in cholesterol content, which can damage the insulin secretion pathway, contributing to the aetiology of type 2 diabetes mellitus.
Caridis, Anna Maria, Dolan, Sharron, Graham, Annette, Lightbody, Richard J., Tarlton, Jamie M.R.   +4 more
core   +1 more source

Vitamin D enzymes (CYP27A1, CYP27B1 and CYP24A1) and receptor expression in non-melanoma skin cancer [PDF]

, 2019
No abstract available for this ...
Apostolopoulos, Vasso, Blatch, Gregory L, Dass, Crispin R, Nemazannikova, Natalie, Sinclair, Rodney   +4 more
core   +2 more sources

The Pathogenic Roles of Local Vitamin D Metabolism Defect in Valve Inflammation and Calcification. [PDF]

Adv Sci (Weinh)
This study identifies the valvular interstitial cell populations responsible for valvular calcification induced by hyperphosphatemia and likely aging, uncovers local vitamin D metabolism defect‐induced inflammation as a critical pathogenic factor of calcific aortic valve disease, and highlights active vitamin D and ERK inhibitor as potential preventive
Yang R, Han C, Xie Y, Qiu S, Zhang S, He J, Wang Z, Zhang Z, Liu H, Chen L, Li B.   +10 more
europepmc   +2 more sources

CYP27A1 inhibits bladder cancer cells proliferation by regulating cholesterol homeostasis [PDF]

Cell Cycle, 2018
CYP27A1, an enzyme involved in regulating cellular cholesterol homeostasis, converts cholesterol into 27-hydroxycholesterol (27-HC). The relationship between CYP27A1 and cell proliferation was studied to determine the role of CYP27A1 in bladder cancer. The expression of CYP27A1 in three bladder cancer cell lines (T24, UM-UC-3 and 5637) were assessed by
Zhijuan Liang, Yuanbin Chen, Liping Wang, Dan Li, Xuecheng Yang, Guofeng Ma, Yonghua Wang, Yongxin Li, Han Zhao, Ye Liang, Haitao Niu   +10 more
openaire   +2 more sources

Cholestenoic acid, an endogenous cholesterol metabolite, is a potent γ-secretase modulator. [PDF]

, 2015
BackgroundAmyloid-β (Aβ) 42 has been implicated as the initiating molecule in the pathogenesis of Alzheimer's disease (AD); thus, therapeutic strategies that target Aβ42 are of great interest.
Akula, Rajender, Ba, Saritha, Ceballos-Diaz, Carolina, Felsenstein, Kevin M, Golde, Todd E, Hochhaus, Günther, Jung, Joo In, Koo, Edward H, Ladd, Thomas B, Park, Hyo-Jin, Price, Ashleigh R, Ran, Yong, Shapiro, Gideon, Smithson, Lisa A, Tang, Yufei   +14 more
core   +3 more sources

CYP27A1抑制膀胱癌细胞增殖及作用机制研究

Zhongguo shiyan zhenduanxue, 2021
目的 研究CYP27A1对膀胱癌细胞的影响及其作用机制。方法 qRY-PCR检测膀胱癌细胞中AR和CYP27A1的mRNA水平;采用转染的实验技术使T24细胞稳定表达CYP27A1;MTT实验检测CYP27A1和27-HC对膀胱癌细胞增殖的影响;裸鼠移植瘤模型检测CYP27A1对膀胱癌细胞增殖的影响;ELIAE检测细胞上清液中27-HC的含量。结果 T24细胞中AR处于高表达水平CYP27A1处于低表达水平,5637细胞中AR处于低表达水平,CYP27A1处于高表达水平 ...
景中民, 朱海松, 徐海亮, 张超
doaj