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
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Gardin A et al.
Orphanet Journal of Rare Diseases, 2023
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
The effectiveness of correcting abnormal metabolic profiles.
Clayton PT
Journal of Inherited Metabolic Disease, 2020
AKR1D1 regulates glucocorticoid availability and glucocorticoid receptor activation in human hepatoma cells.
Nikolaou N et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2019
Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.
Zhang MH et al.
World Journal of Gastroenterology, 2019
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
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
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
Human Delta4-3-oxosteroid 5beta-reductase (AKR1D1) deficiency and steroid metabolism.
Palermo M et al.
Steroids, 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