{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14"],"submitter":["Cocciadiferro D"],"pubmed_abstract":["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 <i>DHCR24</i> encoding 3-β-hydroxysterol Δ-24-reductase. DHCR24 is regarded as the key enzyme of cholesterol synthesis in the metabolism of brain cholesterol as it catalyzes the reduction of the Δ-24 double bond of sterol intermediates during cholesterol biosynthesis. To date, 15 <i>DHCR24</i> variants, detected in 2 related and 14 unrelated patients, have been associated with the desmosterolosis disorder. Here, we describe a proband harboring the never-described <i>DHCR24</i> homozygous missense variant NM_014762.4:c.506T>C, NP_055577.1:"],"journal":["Frontiers in genetics"],"pagination":["1307934"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10795535"],"repository":["biostudies-literature"],"pubmed_title":["Exploiting <i>in silico</i> structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study."],"pmcid":["PMC10795535"],"pubmed_authors":["Bartuli A","Novelli A","Villani A","Rizzo C","Panfili FM","Biagini T","Minervino D","Macchiaiolo M","Mazza T","Vecchio D","Petrizzelli F","Cocciadiferro D","Agolini E","Martinelli D","Boenzi S","Buonuomo PS"],"additional_accession":[]},"is_claimable":false,"name":"Exploiting <i>in silico</i> structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.","description":"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 <i>DHCR24</i> encoding 3-β-hydroxysterol Δ-24-reductase. DHCR24 is regarded as the key enzyme of cholesterol synthesis in the metabolism of brain cholesterol as it catalyzes the reduction of the Δ-24 double bond of sterol intermediates during cholesterol biosynthesis. To date, 15 <i>DHCR24</i> variants, detected in 2 related and 14 unrelated patients, have been associated with the desmosterolosis disorder. Here, we describe a proband harboring the never-described <i>DHCR24</i> homozygous missense variant NM_014762.4:c.506T>C, NP_055577.1:","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2026-04-24T03:19:16.509Z","creation":"2025-04-04T21:57:23.319Z"},"accession":"S-EPMC10795535","cross_references":{"pubmed":["38239854"],"doi":["10.3389/fgene.2023.1307934"]}}