☆ 4.0 Article

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study

MOLECULAR GENETICS AND METABOLISM REPORTS (2024)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Review Pharmacology & Pharmacy

Sterol regulation of developmental and oncogenic Hedgehog signaling

Vikas Daggubati et al.

Summary: This article discusses the role of the Hedgehog (Hh) family of lipid-modified signaling proteins in embryonic tissue patterning and postembryonic tissue homeostasis, as well as the involvement of dysregulated Hh signaling in familial and sporadic cancers. It also explores the binding and modulation of SMO activity by endogenous cholesterol and oxidized cholesterol derivatives. The article proposes models of sterol regulation of SMO and discusses the potential utility of steroidal SMO ligands or inhibitors of enzymes involved in sterol metabolism as cancer therapeutics.

BIOCHEMICAL PHARMACOLOGY (2022)

添加到收藏夹

Article Biology

7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome

Hideaki Tomita et al.

Summary: Deficient DHCR7 in SLOS leads to cholesterol deficiency and accumulation of 7-DHC. This study reveals that loss of DHCR7 causes accumulation of 7-DHC-derived oxysterol metabolites, premature neurogenesis, and depletion of cortical precursor pool. The major oxysterol, DHCEO, mediates these effects through crosstalk between GR and TrkB.

ELIFE (2022)

添加到收藏夹

Article Multidisciplinary Sciences

Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome

Steven J. Fliesler et al.

SCIENTIFIC REPORTS (2018)

添加到收藏夹

Article Neurosciences

Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome

Zeljka Korade et al.

BIOLOGICAL PSYCHIATRY (2014)

添加到收藏夹

Review Endocrinology & Metabolism

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource

Clara D. M. van Karnebeek et al.

MOLECULAR GENETICS AND METABOLISM (2014)

添加到收藏夹

Article Genetics & Heredity

Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders

Melissa D. Svoboda et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)

添加到收藏夹

Article Genetics & Heredity

Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology

Malgorzata J. M. Nowaczyk et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)

添加到收藏夹

Article Biochemistry & Molecular Biology

7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome

Libin Xu et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2012)

添加到收藏夹

Article Neurosciences

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

Libin Xu et al.

NEUROBIOLOGY OF DISEASE (2012)

添加到收藏夹

Review Chemistry, Multidisciplinary

Free Radical Lipid Peroxidation: Mechanisms and Analysis

Huiyong Yin et al.

CHEMICAL REVIEWS (2011)

添加到收藏夹

Article Biochemistry & Molecular Biology

Conversion of 7-Dehydrocholesterol to 7-Ketocholesterol Is Catalyzed by Human Cytochrome P450 7A1 and Occurs by Direct Oxidation without an Epoxide Intermediate

Raku Shinkyo et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

添加到收藏夹

Article Biochemistry & Molecular Biology

Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome

Libin Xu et al.

JOURNAL OF LIPID RESEARCH (2011)

添加到收藏夹

Article Biochemistry & Molecular Biology

Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome

Zeljka Korade et al.

JOURNAL OF LIPID RESEARCH (2010)

添加到收藏夹

Article Pediatrics

Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome

Yen-Ming Chan et al.

PEDIATRIC RESEARCH (2009)

添加到收藏夹

Article Pharmacology & Pharmacy

Balancing cholesterol synthesis and absorption in the gastrointestinal tract

David E. Cohen

JOURNAL OF CLINICAL LIPIDOLOGY (2008)

添加到收藏夹

Review Biochemistry & Molecular Biology

Genetic regulation of cholesterol absorption and plasma plant sterol levels: commonalities and differences

E Sehayek

JOURNAL OF LIPID RESEARCH (2003)

添加到收藏夹

Article Endocrinology & Metabolism

Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome

M Honda et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2000)

添加到收藏夹

Review Genetics & Heredity

The Smith-Lemli-Opitz syndrome

RI Kelley et al.

JOURNAL OF MEDICAL GENETICS (2000)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.