Associated Papers
Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?
Hudson J et al.
American Journal of Medical Genetics. Part A, 2025
Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.
Detlefsen AJ et al.
International Journal of Molecular Sciences, 2023
Differential activity and expression of human 5β-reductase (AKR1D1) splice variants.
Appanna N et al.
Journal of Molecular Endocrinology, 2021
Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.
Wang HH et al.
World Journal of Gastroenterology, 2018
In-Depth Dissection of the P133R Mutation in Steroid 5β-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency.
Chen M et al.
Biochemistry, 2015
Disorders of bile acid synthesis.
Clayton PT
Journal of Inherited Metabolic Disease, 2011
The effect of disease associated point mutations on 5β-reductase (AKR1D1) enzyme function.
Mindnich R et al.
Chemico-biological Interactions, 2011
Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.
Drury JE et al.
The Journal of Biological Chemistry, 2010
The crystal structure of human Delta4-3-ketosteroid 5beta-reductase defines the functional role of the residues of the catalytic tetrad in the steroid double bond reduction mechanism.
Faucher F et al.
Biochemistry, 2008
Crystal structure of human liver Delta4-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis.
Di Costanzo L et al.
The Journal of Biological Chemistry, 2008
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.
Lemonde HA et al.
Gut, 2003
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