Generation and validation of a conditional knockout mouse model for desmosterolosis

The enzyme 3β-hydroxysterol-Δ24 reductase (DHCR24, EC 1.3.1.72) catalyzes the conversion of desmosterol to cholesterol and is obligatory for post-squalene cholesterol synthesis. Genetic loss of this enzyme results in desmosterolosis (MIM #602398), a rare disease that presents with multiple congenita...

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Bibliografische gegevens
Gepubliceerd in:J Lipid Res
Hoofdauteurs: Kanuri, Babunageswararao, Fong, Vincent, Ponny, Sithara Raju, Weerasekera, Ranjuna, Pulakanti, Kirthi, Patel, Kriya S., Tyshynsky, Roman, Patel, Shailendra B.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Biochemistry and Molecular Biology 2021
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7933790/
https://ncbi.nlm.nih.gov/pubmed/33524375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jlr.2021.100028
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