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Published in 2022 at "Lipids"
DOI: 10.1002/lipd.12357
Abstract: Current treatment approaches for hyperlipidemia rely mainly on reducing the cholesterol level by inhibiting 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), which is involved in the presqualene pathway of cholesterol biosynthesis. Finding a compound that instead targets the postsqualene…
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Keywords:
human hepg2;
dehydrocholesterol;
dhcr7;
cholesterol ... See more keywords
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Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.250
Abstract: Background Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive inborn error of cholesterol synthesis caused by mutation of the 7-dehydrocholesterol reductase (DHCR7) gene. This results in abnormal sterol levels, increased 7-dehydrocholesterol and typically decreased cholesterol. Although…
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Keywords:
test;
dhcr7t93m mice;
model;
mice ... See more keywords
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Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.15
Abstract: Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2–3 toe…
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Keywords:
lemli opitz;
opitz syndrome;
sex development;
smith lemli ... See more keywords