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17 results for “Smith-Lemli-Opitz syndrome”
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
<p>Defective 3beta-hydroxysterol-delta<sup>7 </sup>-reductase (DHCR7) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in deficiency in cholesterol and accumulation of its precursor, 7-dehydrocholesterol (7-DHC). Here, we show that loss of <i>DHCR7</i> causes accumulation of 7-DHC-derived oxysterol metabolites, premature neurogenesis, and perturbation of neuronal localization in developing murine or human cortical neural precursors, both <i>in vitro</i> and <i>in vivo</i>. We found that a major oxysterol, 3b,5a-dihydroxycholest-7-en-6-one (DHCEO), mediates these effects by initiating crosstalk between glucocorticoid receptor (GR) and neurotrophin receptor kinase TrkB. Either loss of <i>DHCR7</i> or direct exposure to DHCEO causes hyperactivation of GR and TrkB and their downstream MEK-ERK-C/EBP signaling pathway in cortical neural precursors. Moreover, direct inhibition of GR activation with an antagonist or inhibition of DHCEO accumulation with antioxidants rescues the premature neurogenesis phenotype caused by the loss of <i>DHCR7</i>. These results suggest that GR could be a new therapeutic target against the neurological defects observed in SLOS.</p>
Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
ClinicalTrials.gov study NCT00114634. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
ClinicalTrials.gov study NCT00064792. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
ClinicalTrials.gov study NCT00272844. IPD Sharing: Not stated. Countries: 1. Publications: 5.
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
Open the record for dataset details and reuse information.
Study of Smith-Lemli-Opitz Syndrome
ClinicalTrials.gov study NCT00001721. IPD Sharing: UNDECIDED. Countries: 1. Publications: 6.
Prenatal Screening For Smith-Lemli-Opitz Syndrome
ClinicalTrials.gov study NCT00070850. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
ClinicalTrials.gov study NCT05047354. IPD Sharing: UNDECIDED. Countries: 1. Publications: 4.
A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome
ClinicalTrials.gov study NCT01413425. IPD Sharing: Not stated. Countries: 0. Publications: 3.
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
ClinicalTrials.gov study NCT00017732. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Smith-Lemli-Opitz Syndrome and Cholic Acid
ClinicalTrials.gov study NCT03720990. IPD Sharing: YES. Countries: 1. Publications: 0.
Temporal gene expression changes and affected pathways in neurodevelopment of a mouse model of Smith-Lemli-Opitz syndrome
GEO Series GSE247566. Mus musculus. 32 samples. Type: Expression profiling by high throughput sequencing.
Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient
GEO Series GSE309707. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
ClinicalTrials.gov study NCT01773278. IPD Sharing: NO. Countries: 1. Publications: 0.
Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
ClinicalTrials.gov study NCT00004347. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
ClinicalTrials.gov study NCT01356420. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Expression data from control and Smith-Lemli-Opitz syndrome patient-derived iPS cells - comparison of cholesterol deficient and cholesterol rich culture
GEO Series GSE61203. Homo sapiens. 48 samples. Type: Expression profiling by array.
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