Articles with "dhcr7" as a keyword



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Ergosterol increases 7-dehydrocholesterol, a cholesterol precursor, and decreases cholesterol in human HepG2 cells.

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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… read more here.

Keywords: human hepg2; dehydrocholesterol; dhcr7; cholesterol ... See more keywords
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SU61 ASSESSING BEHAVIOR AND ANXIETY IN THE DHCR7Δ3-5/T93M MOUSE MODEL OF SMITH-LEMLI-OPITZ SYNDROME

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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… read more here.

Keywords: test; dhcr7t93m mice; model; mice ... See more keywords
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Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development

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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… read more here.

Keywords: lemli opitz; opitz syndrome; sex development; smith lemli ... See more keywords