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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kanuri, Babunageswararao, Fong, Vincent, Ponny, Sithara Raju, Weerasekera, Ranjuna, Pulakanti, Kirthi, Patel, Kriya S., Tyshynsky, Roman, Patel, Shailendra B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933790/
https://www.ncbi.nlm.nih.gov/pubmed/33524375
http://dx.doi.org/10.1016/j.jlr.2021.100028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933790/
https://www.ncbi.nlm.nih.gov/pubmed/33524375
http://dx.doi.org/10.1016/j.jlr.2021.100028

Ejemplares similares