Associated Papers
DHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum.
Kose CC et al.
Journal of Clinical Lipidology, 2025
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Cocciadiferro D et al.
Frontiers in Genetics, 2023
Desmosterolosis presenting with multiple congenital anomalies.
Rohanizadegan M et al.
European Journal of Medical Genetics, 2018
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
Dias C et al.
Orphanet Journal of Rare Diseases, 2014
Signaling regulates activity of DHCR24, the final enzyme in cholesterol synthesis.
Luu W et al.
Journal of Lipid Research, 2014
Gender dependent effect of DHCR24 polymorphism on the risk for Alzheimer's disease.
Fehér A et al.
Neuroscience Letters, 2012
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD et al.
Journal of Lipid Research, 2011
Mutational screening analysis of DHCR24/seladin-1 gene in Italian familial Alzheimer's disease.
Tedde A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2008
Regulation of cellular response to oncogenic and oxidative stress by Seladin-1.
Wu C et al.
Nature, 2004
Malformation syndromes due to inborn errors of cholesterol synthesis.
Porter FD
The Journal of Clinical Investigation, 2002
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
Waterham HR et al.
American Journal of Human Genetics, 2001
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