Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations of DHCR24 encoding 3-β-hydroxysterol Δ-24-reduc...

Full description

Bibliographic Details
Main Authors: Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
DHCR24
desmosterolosis
genotype–phenotype correlation
structural biology
medical genetics
bioinformatics
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1307934/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1307934/full

Similar Items