Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Delta[4]-3-Oxosteroid-5beta-Reductase Deficiency. | Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ(4)-3-Oxosteroid-5β-Reductase Deficiency. Zhao J, Qiu YL, Wang L, Li ZD, Xie XB, Lu Y, Setchell KDR, Cheng Y, Xing QH, Wang JS. | 03/21/2023 |
Differential activity and expression of human 5beta-reductase (AKR1D1) splice variants. | Differential activity and expression of human 5β-reductase (AKR1D1) splice variants. Appanna N, Gibson H, Gangitano E, Dempster NJ, Morris K, George S, Arvaniti A, Gathercole LL, Keevil B, Penning TM, Storbeck KH, Tomlinson JW, Nikolaou N., Free PMC Article | 12/11/2021 |
Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma. | Diagnostic and prognostic values of AKR1C3 and AKR1D1 in hepatocellular carcinoma. Zhu P, Feng R, Lu X, Liao Y, Du Z, Zhai W, Chen K., Free PMC Article | 08/21/2021 |
AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases. | AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases. Chen JY, Wu JF, Kimura A, Nittono H, Liou BY, Lee CS, Chen HS, Chiu YC, Ni YH, Peng SS, Lee WT, Tsai IJ, Chang MH, Chen HL. | 08/22/2020 |
may have a crucial role in the pathogenesis and progression of the non-alcoholic fatty liver disease. | AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease. Nikolaou N, Gathercole LL, Marchand L, Althari S, Dempster NJ, Green CJ, van de Bunt M, McNeil C, Arvaniti A, Hughes BA, Sgromo B, Gillies RS, Marschall HU, Penning TM, Ryan J, Arlt W, Hodson L, Tomlinson JW., Free PMC Article | 02/22/2020 |
The correlation between CYP2C9 and AKR1D1 genetic profile and the PK parameters for S-(+) and R-(-)-IBP was evaluated. | AKR1D1*36 C>T (rs1872930) allelic variant is associated with variability of the CYP2C9 genotype predicted pharmacokinetics of ibuprofen enantiomers - a pilot study in healthy volunteers. Kapedanovska Nestorovska A, Jakjovski K, Naumovska Z, Sterjev Z, Geskovska NM, Mladenovska K, Suturkova L, Dimovski A. | 12/21/2019 |
AKR1D1 regulates glucocorticoid availability in human hepatoma cells. AKR1D1 regulates glucocorticoid receptor activation in human hepatoma cells. | AKR1D1 regulates glucocorticoid availability and glucocorticoid receptor activation in human hepatoma cells. Nikolaou N, Gathercole LL, Kirkwood L, Dunford JE, Hughes BA, Gilligan LC, Oppermann U, Penning TM, Arlt W, Hodson L, Tomlinson JW., Free PMC Article | 11/23/2019 |
dysregulation of AKR1D1 disrupted bile acid and steroid hormone homeostasis, which may contribute to the pathogenesis of diabetes. | Dysregulation of Δ(4)-3-oxosteroid 5β-reductase in diabetic patients: Implications and mechanisms. Valanejad L, Ghareeb M, Shiffka S, Nadolny C, Chen Y, Guo L, Verma R, You S, Akhlaghi F, Deng R., Free PMC Article | 03/23/2019 |
infant proved to be a compound heterozygote of the AKR1D1 variants c.579+2delT and c.853C>T(p.Q285X), two novel mutations originated from his mother and father, respectively | [Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene]. Cheng Y, Guo L, Deng M, Song YZ., Free PMC Article | 10/28/2017 |
Impaired NADPH binding and hydride transfer is the molecular basis for bile acid deficiency in patients with the P133R mutation in AKR1D1. | In-Depth Dissection of the P133R Mutation in Steroid 5β-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency. Chen M, Jin Y, Penning TM., Free PMC Article | 01/30/2016 |
When different steroid substrates were used in single turnover experiments with AKR1D1. | The rate-determining steps of aldo-keto reductases (AKRs), a study on human steroid 5β-reductase (AKR1D1). Chen M, Jin Y, Penning TM., Free PMC Article | 07/4/2015 |
AKR1D1 generates all 5beta-dihydrosteroids in the C19-C27 steroid series. | 5β-Reduced steroids and human Δ(4)-3-ketosteroid 5β-reductase (AKR1D1). Chen M, Penning TM., Free PMC Article | 11/29/2014 |
Despite having high kchem values with steroid hormones, the kinetic control of AKR1D1 is consistent with the enzyme catalysing the slowest step in the catabolic sequence of steroid hormone transformation in the liver. | Rate of steroid double-bond reduction catalysed by the human steroid 5β-reductase (AKR1D1) is sensitive to steroid structure: implications for steroid metabolism and bile acid synthesis. Jin Y, Chen M, Penning TM., Free PMC Article | 10/4/2014 |
Studies indicate that mutations in aldo-keto reductase family 1 (AKR1) enzymes AKR1C1 and AKR1C4 are responsible for sexual development dysgenesis and mutations in AKR1D1 are causative in bile-acid deficiency. | Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism. Rižner TL, Penning TM., Free PMC Article | 08/30/2014 |
Novel homozygous frameshift mutations in the AKR1D1 gene and in the SKIV2L gene were found in a family with severe infantile liver disease. | A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. Morgan NV, Hartley JL, Setchell KD, Simpson MA, Brown R, Tee L, Kirkham S, Pasha S, Trembath RC, Maher ER, Gissen P, Kelly DA., Free PMC Article | 01/4/2014 |
Consistent with AKR1D1's putative role as a driver of the P450 subnetwork, the AKR1D1 3'-UTR SNP was significantly associated with increased hepatic mRNA expression of multiple P450s | Genetic variation in aldo-keto reductase 1D1 (AKR1D1) affects the expression and activity of multiple cytochrome P450s. Chaudhry AS, Thirumaran RK, Yasuda K, Yang X, Fan Y, Strom SC, Schuetz EG., Free PMC Article | 11/16/2013 |
These studies show how a single point mutation in AKR1D1 can introduce HSD activity with unexpected configurational and stereochemical preference. | Conversion of human steroid 5β-reductase (AKR1D1) into 3β-hydroxysteroid dehydrogenase by single point mutation E120H: example of perfect enzyme engineering. Chen M, Drury JE, Christianson DW, Penning TM., Free PMC Article | 07/14/2012 |
all five mutations identified in patients with functional bile acid deficiency strongly affected AKR1D1 enzyme functionality and therefore may be causal for this disease | The effect of disease associated point mutations on 5β-reductase (AKR1D1) enzyme function. Mindnich R, Drury JE, Penning TM., Free PMC Article | 08/27/2011 |
determined the substrate specificity of homogeneous human recombinant AKR1D1 using C18, C19, C21, and C27 Delta(4)-ketosteroids and assessed the pH-rate dependence of the enzyme. | Substrate specificity and inhibitor analyses of human steroid 5β-reductase (AKR1D1). Chen M, Drury JE, Penning TM., Free PMC Article | 07/30/2011 |
analysis of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency | Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. Drury JE, Mindnich R, Penning TM., Free PMC Article | 09/27/2010 |
Observational study of gene-disease association. (HuGE Navigator) | SRD5A2 is associated with increased cortisol metabolism in schizophrenia spectrum disorders. Steen NE, Tesli M, Kähler AK, Methlie P, Hope S, Barrett EA, Larsson S, Mork E, Løvås K, Røssberg JI, Agartz I, Melle I, Djurovic S, Lorentzen S, Berg JP, Andreassen OA. | 09/15/2010 |
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. | SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. Ueki I, Kimura A, Chen HL, Yorifuji T, Mori J, Itoh S, Maruyama K, Ishige T, Takei H, Nittono H, Kurosawa T, Kage M, Matsuishi T. | 01/21/2010 |
The structures of an AKR1D1-NADP(+) binary complex, and AKR1D1-NADP(+)-cortisone, AKR1D1-NADP(+)-progesterone and AKR1D1-NADP(+)-testosterone ternary complexes at high resolutions, is reported. | Structure and catalytic mechanism of human steroid 5beta-reductase (AKR1D1). Di Costanzo L, Drury JE, Christianson DW, Penning TM., Free PMC Article | 01/21/2010 |
Structure determination of human AKR1C4 and homology modelling of AKR1D1 followed by docking experiments were used to explore active site geometries. | Structure-activity relationships of human AKR-type oxidoreductases involved in bile acid synthesis: AKR1D1 and AKR1C4. Lee WH, Lukacik P, Guo K, Ugochukwu E, Kavanagh KL, Marsden B, Oppermann U. | 01/21/2010 |