Results 31 to 40 of about 4,480 (201)

Smith-Lemli-Opitz Syndrome

Pediatric Neurology Briefs, 1998
Two sibs, a male aged 3 years and female aged 7 months, with a variant of Smith-Lemli-Opitz (SLO) syndrome and atypical sterol metabolism are reported from the Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD.
J Gordon Millichap
doaj   +1 more source

Corpus Callosum in Smith-Lemli-Opitz Syndrome

Pediatric Neurology Briefs, 2013
Investigators at the Kennedy Krieger Institute and Johns Hopkins University, Baltimore; and the National Institutes of Health, Bethesda, MD, studied the relation between the size of the corpus callosum (CC), level of serum 7-dehydrocholesterol (7DHC ...
J Gordon Millichap
doaj   +1 more source

Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure [PDF]

, 2018
K
Balogh, István, Garbett, Krassimira A., Genaro-Mattos, Thiago C., Koczok, Katalin, Korade, Zeljka, Liu, Wei, Mirnics, Károly, Porter, Ned A., Tallman, Keri A.   +8 more
core   +1 more source

Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome.

Journal of Lipid Research, 1995
Cholesta-5,8-dien-3 beta-ol (8-dehydrocholesterol) and cholesta-5,7-dien-3 beta-ol (7-dehydrocholesterol) were isolated from the fecal neutral sterol fraction from homozygotes with Smith-Lemli-Opitz syndrome.
A K Batta, G S Tint, S Shefer, D Abuelo, G Salen   +4 more
doaj   +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

DHCR7 mutations linked to higher vitamin D status allowed early human migration to Northern latitudes [PDF]

, 2013
PMCID: PMC3708787This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided ...
Griffiths, CJ, Hyppoenen, E, Kuan, V, Martineau, AR, Walton, R   +4 more
core   +1 more source

Regulation of rat hepatic 3β-hydroxysterol Δ7-reductase: substrate specificity, competitive and non-competitive inhibition, and phosphorylation/dephosphorylation

Journal of Lipid Research, 1998
The mechanism for the catalytic reduction of the double bond at C-7,8 in 7-dehydrocholesterol by 3β-hydroxysterol Δ7-reductase was investigated by testing structurally related sterols as substrates and potential inhibitors. The hepatic smooth endoplasmic
S. Shefer, G. Salen, A. Honda, A.K. Batta, L.B. Nguyen, G.S. Tint, Y.A. Ioannou, R. Desnick   +7 more
doaj   +1 more source

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

Journal of Lipid Research, 1996
The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol.
G Salen, S Shefer, A K Batta, G S Tint, G Xu, A Honda, M Irons, E R Elias   +7 more
doaj   +1 more source

Smith-Lemli-Opitz Syndrome

Sanghera AS, Zeppieri M.
europepmc   +2 more sources

Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: a model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 1999
7-Dehydrocholesterol accumulates in fetuses affected by the Smith-Lemli-Opitz syndrome as a result of a deficit in the ultimate step of cholesterol synthesis catalyzed by Δ7 reductase.
Wassila Gaoua, Françoise Chevy, Charles Roux, Claude Wolf   +3 more
doaj   +1 more source