Results 71 to 80 of about 23,617 (228)
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 +7 more
doaj +1 more source
Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience
Balkan Journal of Medical Genetics, 2021 The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (
Begic N, Begic Z, Begic E
doaj +1 more source
Enzymatic Metabolism of Ergosterol by Cytochrome P450scc to Biologically Active 17α,24-Dihydroxyergosterol [PDF]
, 2005 SummaryWe demonstrate the metabolism of ergosterol by cytochrome P450scc in either a reconstituted system or isolated adrenal mitochondria. The major reaction product was identified as 17α,24-dihydroxyergosterol.
Gandy, Michael N. +8 more
core +1 more source
The FEBS Journal, EarlyView.TGF‐β signaling regulates extracellular vesicle (EV) release in cancer cells by modulating the expression and activity of genes associated with EV biogenesis. The TGF‐β‐induced upregulation of RAB4A expression facilitates fast endosomal recycling, a process that limits the fusion of multivesicular bodies with the plasma membrane and EV secretion. Hence,
Dorival Mendes Rodrigues‐Junior +5 more
wiley +1 more source
Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
Genetics and Molecular Biology, 2006 Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7 ...
Fernanda B. Scalco +4 more
doaj +1 more source
Plant Biotechnology Journal, EarlyView.ABSTRACT Plant viruses drive widespread crop epidemics, yet the host plant responses across different cell types, particularly how these responses are influenced by cultivars with varying genetic backgrounds, including the presence of resistance (R) genes, remain poorly understood. Using tomato brown rugose fruit virus (ToBRFV) and two tomato cultivars,
Yuhong Zhang +8 more
wiley +1 more source
Journal of Lipid Research, 2014 We describe a highly sensitive method for the detection of 7-dehydrocholesterol (7-DHC), the biosynthetic precursor of cholesterol, based on its reactivity with 4-phenyl-1,2,4-triazoline-3,5-dione (PTAD) in a Diels-Alder cycloaddition reaction.
Wei Liu +5 more
doaj +1 more source
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
eLife, 2022 Defective 3β-hydroxysterol-Δ7 -reductase (DHCR7) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in a deficiency in cholesterol and accumulation of its precursor, 7-dehydrocholesterol (7-DHC).
Hideaki Tomita +5 more
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Molecules and Cells, 2005 In mammals, 7-dehydrocholesterol reductase (Dhcr7) is the terminal enzyme in cholesterol biosynthesis. We previously reported that the Dhcr7 proximal promoter (-179 to +1), which contains CpG islands, is responsible for sterol-mediated expression of the rat gene.
Jai-Hyun, Kim +4 more
openaire +2 more sources
Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry
Brazilian Journal of Medical and Biological Research, 2003 Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development ...
F.B. Scalco +4 more
doaj +1 more source