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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. Zhu P, et al. Aging (Albany NY). 2021 Jan 20;13(3):4138-4156. doi: 10.18632/aging.202380. Epub 2021 Jan 20. Aging (Albany NY). 2021. PMID: 33493134 Free PMC article.
Bioinformatics methods suggested AKR1C3 was overexpressed in HCC and AKR1D1 was down-regulated. The receiver operating characteristic curve (ROC) analysis was performed and the area under curve (AUC) values of AKR1C3 and AKR1D1 were above 0.7 (0.948, 0.836, respecti …
Bioinformatics methods suggested AKR1C3 was overexpressed in HCC and AKR1D1 was down-regulated. The receiver operating characteristic …
The effect of disease associated point mutations on 5beta-reductase (AKR1D1) enzyme function.
Mindnich R, Drury JE, Penning TM. Mindnich R, et al. Chem Biol Interact. 2011 May 30;191(1-3):250-4. doi: 10.1016/j.cbi.2010.12.020. Epub 2010 Dec 24. Chem Biol Interact. 2011. PMID: 21185810 Free PMC article.
In five patients with 5beta-reductase deficiency, sequencing revealed individual, non-synonymous point mutations in the AKR1D1 gene: L106F, P133R, G223E, P198L and R261C. However, mapping these mutations to the AKR1D1 crystal structure failed to reveal any obvious i …
In five patients with 5beta-reductase deficiency, sequencing revealed individual, non-synonymous point mutations in the AKR1D1 gene: …
Glucocorticoids regulate AKR1D1 activity in human liver in vitro and in vivo.
Nikolaou N, Arvaniti A, Appanna N, Sharp A, Hughes BA, Digweed D, Whitaker MJ, Ross R, Arlt W, Penning TM, Morris K, George S, Keevil BG, Hodson L, Gathercole LL, Tomlinson JW. Nikolaou N, et al. J Endocrinol. 2020 May;245(2):207-218. doi: 10.1530/JOE-19-0473. J Endocrinol. 2020. PMID: 32106090 Free PMC article.
However, the potential of synthetic glucocorticoids to be metabolised by AKR1D1 as well as to regulate its expression and activity has not been investigated. The impact of glucocorticoids on AKR1D1 activity was assessed in human liver HepG2 and Huh7 cells; AKR1D1 …
However, the potential of synthetic glucocorticoids to be metabolised by AKR1D1 as well as to regulate its expression and activity ha …
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. Nikolaou N, et al. Metabolism. 2019 Oct;99:67-80. doi: 10.1016/j.metabol.2019.153947. Epub 2019 Jul 19. Metabolism. 2019. PMID: 31330134 Free PMC article.
METHODS: Human liver biopsies were obtained from 34 obese patients and AKR1D1 mRNA expression levels were measured using qPCR. Genetic manipulation of AKR1D1 was performed in human HepG2 and Huh7 liver cell lines. ...In human liver cell lines, AKR1D1 knockdow …
METHODS: Human liver biopsies were obtained from 34 obese patients and AKR1D1 mRNA expression levels were measured using qPCR. Geneti …
Assessment of the inhibitory potential of anabolic steroids towards human AKR1D1 by computational methods and in vitro evaluation.
Kędzierski J, Allard JA, Odermatt A, Smieško M. Kędzierski J, et al. Toxicol Lett. 2023 Aug 1;384:1-13. doi: 10.1016/j.toxlet.2023.07.006. Epub 2023 Jul 13. Toxicol Lett. 2023. PMID: 37451653
The critical micellar concentration of bile acids depends on the delta4-reduction stereochemistry, with the 3-oxo-5beta-steroid-delta4-dehydrogenase (AKR1D1) introducing the cis ring A/B conformation. Loss-of-function mutations in AKR1D1 cause hepatic cholestasis, w …
The critical micellar concentration of bile acids depends on the delta4-reduction stereochemistry, with the 3-oxo-5beta-steroid-delta4-dehyd …
Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.
Zhang MH, Setchell KD, Zhao J, Gong JY, Lu Y, Wang JS. Zhang MH, et al. World J Gastroenterol. 2019 Feb 21;25(7):859-869. doi: 10.3748/wjg.v25.i7.859. World J Gastroenterol. 2019. PMID: 30809085 Free PMC article.
AIM: To evaluate the therapeutic responses of patients with AKR1D1 deficiency to oral bile acid therapy, specifically CDCA. METHODS: Twelve patients with AKR1D1 deficiency, confirmed by fast atom bombardment ionization-mass spectrometry analysis of urine and by gene …
AIM: To evaluate the therapeutic responses of patients with AKR1D1 deficiency to oral bile acid therapy, specifically CDCA. METHODS: …
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, Wen FQ, Dai DL, Wang JS, Zhao J, Setchell KD, Shi LN, Zhou SM, Liu SX, Yang QH. Wang HH, et al. World J Gastroenterol. 2018 Sep 21;24(35):4086-4092. doi: 10.3748/wjg.v24.i35.4086. World J Gastroenterol. 2018. PMID: 30254413 Free PMC article. Review.
Steroid 5beta-reductase [aldo-keto reductase family 1 member D1 (AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. ...The patient was compound hete …
Steroid 5beta-reductase [aldo-keto reductase family 1 member D1 (AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficien …
Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism.
Rižner TL, Penning TM. Rižner TL, et al. Steroids. 2014 Jan;79:49-63. doi: 10.1016/j.steroids.2013.10.012. Epub 2013 Nov 1. Steroids. 2014. PMID: 24189185 Free PMC article. Review.
AKR1C1-AKR1C4 act as 3-keto, 17-keto and 20-ketosteroid reductases to varying extents, while AKR1D1 acts as the sole delta(4)-3-ketosteroid-5beta-reductase (steroid 5beta-reductase) in humans. ...Mutations in AKR1C1 and AKR1C4 are responsible for sexual development dysgene …
AKR1C1-AKR1C4 act as 3-keto, 17-keto and 20-ketosteroid reductases to varying extents, while AKR1D1 acts as the sole delta(4)-3-ketos …
Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.
Detlefsen AJ, Paulukinas RD, Penning TM. Detlefsen AJ, et al. Int J Mol Sci. 2023 Jan 18;24(3):1873. doi: 10.3390/ijms24031873. Int J Mol Sci. 2023. PMID: 36768194 Free PMC article. Review.
We found mutations in human AKR1C genes that disrupt androgen metabolism, which can affect male sexual development and exacerbate prostate cancer and polycystic ovary syndrome (PCOS). Others may be disease causal in the AKR1D1 gene that is responsible for bile acid deficie …
We found mutations in human AKR1C genes that disrupt androgen metabolism, which can affect male sexual development and exacerbate prostate c …
54 results