Associated Papers
Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.
Fenton NM et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2025
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
Zhuang J et al.
Molecular Genetics & Genomic Medicine, 2023
Structural enzymology of cholesterol biosynthesis and storage.
Long T et al.
Current Opinion in Structural Biology, 2022
Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity.
Kim DG et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.
Hettiarachchi D et al.
Bmc Medical Genetics, 2020
Targeting epidermal lipids for treatment of Mendelian disorders of cornification.
Kiritsi D et al.
Orphanet Journal of Rare Diseases, 2014
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
Seeger MA et al.
Biochimica Et Biophysica Acta, 2014
Mild phenotypic expression of CHILD syndrome in two generations.
Alexandroff AB et al.
The British Journal of Dermatology, 2009
Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D et al.
Journal of Medical Genetics, 2005
A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome.
Murata K et al.
Journal of Dermatological Science, 2003
Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets.
Ohashi M et al.
The Journal of Biological Chemistry, 2003
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
König A et al.
American Journal of Medical Genetics, 2000
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
Mi XB et al.
Pediatric Dermatology, 0
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