Results 51 to 60 of about 320 (132)

Retinoic Acid‐Related Orphan Nuclear Receptor Alpha Promotes Cartilage Degeneration in Osteoarthritis by Activating the Wnt/β‐Catenin Pathway

The FASEB Journal, Volume 40, Issue 11, 15 June 2026.
During the development of OA, elevated RORα in chondrocytes inhibits β‐catenin degradation in the cytoplasm by activating the Wnt/β‐catenin signaling pathway. When β‐catenin protein accumulates excessively in the cytoplasm, it is transferred to the nucleus and binds to the cytosolic TCF/LEF transcriptional complex, which activates downstream target ...
Ruijue Zhu, Tianwei He, Jiawei Di, Lang Mai, Depeng Wu, Mudan Huang, Yankui Liu, Zhongyu Liu, Liangming Zhang, Lei He   +9 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Vitamin D receptor signaling in inflammatory senescence–associated skin aging: Mechanisms and therapeutic potentials

Journal of Cell Communication and Signaling, Volume 20, Issue 2, June 2026.
Vitamin D receptor (VDR) signaling is implicated in inflammatory senescence‐associated skin aging, a growing health concern in aging populations where cellular senescence and chronic inflammation converge to create complex pathophysiological conditions.
Liancheng Guan, Fan Yang, Meijuan Li, Yujia Chen, Zexin Zhao, Hongxia Li, Deping Luo, Qian Li, Yunzhi Chen   +8 more
wiley   +1 more source

Neutral sterols of rat epididymis: high concentrations of dehydrocholesterols in rat caput epididymidis

Journal of Lipid Research, 2001
Phospholipids and sterols are known to have multiple functions in reproductive tissue of mammals. High concentrations of the cholesterol precursor desmosterol have been described in testis, epididymis, and spermatozoa of various species.
Bernhard Lindenthal, Tayseer A. Aldaghlas, Joanne K. Kelleher, Stephan M. Henkel, René Tolba, Gerhard Haidl, Klaus von Bergmann   +6 more
doaj   +1 more source

Bioinspired Aerobic Oxidation to Functionalize the CD Ring of the Steroid Framework: Synthesis and Stereochemical Assignments of Gargalol C and Related Oxysterols

ChemistryEurope, Volume 4, Issue 6, June 2026.
Bioinspired aerobic oxidation of the CD ring part of 5,6‐α‐epoxysterols was achieved by two means. The study not only led to the first syntheses and configurational (re)assignments of naturally occurring bioactive C14‐ or C15‐hydroxysterols but also gives valuable insights into the biosynthetic pathways of advanced oxysterols. A series of NMR and X‐ray
Hinata Togo, Yui Kanda, Shoji Kobayashi
wiley   +1 more source

Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients[S]

Journal of Lipid Research, 2013
Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients ...
Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Dorothea Haas, Ned A. Porter   +7 more
doaj   +1 more source

Metal‐dependent regulated cell death: Molecular architecture and translational frontiers

iMeta, Volume 5, Issue 3, June 2026.
Intracellular metal dyshomeostasis orchestrates distinct regulated cell death programs, including iron‐driven ferroptosis, copper‐mediated cuproptosis, calcicoptosis, newly designated zincoptosis, mnoptosis, and coptosis. This review systematically delineates their molecular architectures—spanning from Sorafenib‐induced lipid peroxidation and ...
Haoliang Hu, Zhe Chen, Yaqi Li, Jiayi Peng, Jiangang Cao, Hong Zhou, Mengqi Wang, Yuejia Du, Hailin Wu, Huiqin Zhao, Shifang Huang, Dianmei Yu, Meiqing Liu, Olga V. Shevchenko, Natalia Yu. Matveeva, Yiyuan Yang, Kerui Huang, Deguan Lv, Junxia Min, Linxi Chen, Fudi Wang   +20 more
wiley   +1 more source

DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model

Neurobiology of Disease, 2012
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of metabolism caused by defective cholesterol biosynthesis. Mutations within the gene encoding 7-dehydrocholesterol reductase (DHCR7), the last enzyme in the pathway, lead to the accumulation of 7 ...
Libin Xu, Karoly Mirnics, Aaron B. Bowman, Wei Liu, Jennifer Da, Ned A. Porter, Zeljka Korade   +6 more
doaj   +1 more source

Smith Lemli Opitz syndrome: a case report

Khyber Medical University Journal, 2015
INTRODUCTION; Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by deficiency of the enzyme 7-dehydrocholesterol-delta 7-reductase.
saima ali, Saffiullah Khalil, Liaqat Ali
doaj  

Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 1996
A new sensitive and specific method for the evaluation of 3 beta-hydroxysteroid delta 7-reductase activity, the defective enzyme in the Smith-Lemli-Opitz (SLO) syndrome, is described.
M Honda, G S Tint, A Honda, A K Batta, T S Chen, S Shefer, G Salen   +6 more
doaj   +1 more source