Results 61 to 70 of about 3,608 (158)

Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion

Journal of Lipid Research, 2002
Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder characterized by low plasma cholesterol and high 7-dehydrocholesterol (7-DHC). Synthesis of cholesterol and 7-DHC and its metabolites is regulated by HMG-CoA reductase, whose activity can be ...
Anuradha S. Pappu, Robert D. Steiner, Sonja L. Connor, Donna P. Flavell, Don S. Lin, Lauren Hatcher, D.Roger Illingworth, William E. Connor   +7 more
doaj   +1 more source

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

7-dehydrocholesterol reductase inhibitors control Leishmania spp. in human macrophages

Experimental Parasitology
Leishmaniasis, caused by Leishmania spp., is a neglected parasitic disease with a broad clinical spectrum, whose treatments are toxic and present failures and resistance. Leishmania braziliensis and Leishmania amazonensis are highly prevalent species in Brazil. Cholesterol metabolism affects immune responses.
Carlos Henrique da Silva Mota, Ana Marília Viana Utim, Wesley Lima de Paula, Geovanna Medeiros de Oliveira, Ana Luísa Macedo das Mercez Torres, Fátima Ribeiro-Dias, Rodrigo Saar Gomes   +6 more
openaire   +2 more sources

Cholecalciferol increases 7‐dehydrocholesterol reductase activity in adult human epidermal keratinocytes

The FASEB Journal, 2012
7‐Dehydrocholesterol reductase (DHCR7) catalyzes the final step in cholesterol synthesis by reducing the 7–8 double bond of 7‐dehydrocholesterol. In skin cells 7‐dehydrocholesterol also can be converted to cholecalciferol (vitamin D3) by ultraviolet radiation, providing a second pathway for 7‐dehydrocholesterol metabolism in these cells.
Ling Zou, Todd D Porter
openaire   +1 more source

microRNAs: A connection between cholesterol metabolism and neurodegeneration

Neurobiology of Disease, 2014
Dysregulation of cholesterol metabolism in the brain has been associated with many neurodegenerative disorders such as Alzheimer's disease, Niemann–Pick type C disease, Smith–Lemli–Opitz syndrome, Hungtington's disease and Parkinson's disease ...
Leigh Goedeke, Carlos Fernández-Hernando   +1 more
doaj   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, Volume 19, Issue 5, May 2026.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Dissecting the Cell‐Type‐Specific Response to an Emerging Tobamovirus in Tomato Reveals Cultivar‐Dependent Involvement of Brassinosteroid Signalling

Plant Biotechnology Journal, Volume 24, Issue 5, Page 3106-3124, May 2026.
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, Shan Bu, Yuxin Nie, Luyou Wang, Jiayi Liu, Junchen Xu, Jiejun Peng, Fei Yan, Jian Wu   +8 more
wiley   +1 more source

Ferroptosis: The Demise of Cells Through Phospholipid Peroxidation

Advanced Science, Volume 13, Issue 23, 23 April 2026.
The relative abundance of peroxidation‐resistant monounsaturated fatty acids (MUFAs) vs. peroxidation‐sensitive polyunsaturated fatty acids (PUFAs) incorporated into phospholipid (PL) is a key determinant of ferroptosis sensitivity, as the peroxidation of PL PUFA acyl chains (PUFA‐PL) disrupts membrane integrity, causing ferroptotic cell death ...
Shaojie Cui, Jin Ye
wiley   +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  

Biochemical and physiological improvement in a mouse model of Smith–Lemli–Opitz syndrome (SLOS) following gene transfer with AAV vectors

Molecular Genetics and Metabolism Reports, 2014
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol.
Lee Ying, Xavier Matabosch, Montserrat Serra, Berna Watson, Cedric Shackleton, Gordon Watson   +5 more
doaj   +1 more source