Welcome to laboratory of Amit Pandey at University of Bern
Welcome to laboratory of Amit Pandey at University of Bern

Featured Publications

Some of the recent work from the lab

P450 Oxidoreductase

First report of a novel protein destabilization mutation in human P450 oxidoreductase.

 

The L374H mutation in POR causes POR deficiency and disordered steroid metabolism.

Off-target effect of Abiraterone, an anti-prostate cancer drug

Anti-prostate cancer drug abiraterone which inhibits CYP17A1 activities was found to strongly inhibit 21-hydroxylase activity of CYP21A2.

Altered aromatase and CYP3A4 activities due to mutations in POR

We found some common POR polymorphisms thought to be normal can cause loss of function with aromatase and CYP3A4

Selected Publications

71. Malikova J, Brixius-Anderko S, Udhane SS, Parween S, Dick B, Bernhardt R and Pandey AV. CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2. J Steroid. Biochem. Mol. Biol. 174: 192-200  2017 https://doi.org/10.1016/j.jsbmb.2017.09.007

70. Udhane SS, Parween S, Kagawa N and Pandey AV. Altered CYP19A1 and CYP3A4 activities due to mutations A115V, T142A, Q153R and P284L in the human P450 oxidoreductase. Front. Pharmacol. 2017 8:580. doi: 10.3389/fphar.2017.00580

69. Flück CE and Pandey AV. Testicular steroidogenesis. In Endocrinology: Endocrinology of the testis and male reproduction. 2017 . 1-29 doi: 10.1007/978-3-319-29456-8_10-1

68. Burkhard FZ, Parween S, Udhane SS, Flück CE and Pandey AV. P450 oxidoreductase deficiency: Analysis of mutations and polymorphisms. J Steroid Biochem. Mol. Biol. 2017 165: 38-50. doi:10.1016/j.jsbmb.2016.04.003

67. Flück, C.E. and Pandey, A.V. Impact on CYP19A1 activity by mutations in NADPH cytochrome P450 oxidoreductase. J Steroid Biochem Mol Biol. 2017 165:64-70 doi:10.1016/j.jsbmb.2016.03.031

66. Marti, N; Galvan, G; Pandey, AV; Trippel, M; Tapia, C; Muller, M; Perren, A; Flück, CE. Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome. Mol. Cell. Endocrinol. 2017 441: 116-123.  doi:10.1016/j.mce.2016.07.029

65. Prasad M; Walker AN; Kaur J; Thomas JL; Powell SA; Pandey AV; Whittal RM; Burak WE; Petruzzelli G; Bose HS. Endoplasmic reticulum stress enhances mitochondrial metabolic activity in mammalian adrenals and gonads. Mol. Cell. Biology 2016 36: 3058-3074 doi: 10.1128/MCB.00411-16

64. Parween S; Roucher Boulez F, Flück CE; Lienhardt-Roussie A; Mallet D; Morel Y and Pandey AV. P450 oxidoreductase deficiency: loss of activity caused by protein instability from a novel L374H mutation.

J Clinical Endocrinol. Metab. 2016  101: 4789-4798. http://press.endocrine.org/doi/abs/10.1210/jc.2016-1928

 

65. Zalewski, A; Ma, Nina S; Legeza, B; Renthal, N; Flück, Christa E & Pandey, Amit V. Vitamin D-dependent rickets type 1 caused by mutations in CYP27B1 affecting protein interactions with adrenodoxin. J. Clin. Endocrinol. Metab. 2016. 101: 3409-3418.  DOI: http://dx.doi.org/10.1210/jc.2016-2124

64. Udhane, SS; Dick, B; Hu, Q; Hartmann, RW and Pandey AV. Specificity of anit-prostrate cancer CYP17A1 inhibitors on androgen biosynthesis. Biochem. Biophys. Res. Commun. 477: 1005-1010, 2016. DOI: 10.1016/j.bbrc.2016.07.019

 

61. Inauen C, Rüfenacht V, Pandey AV, Hu L, Blom H, Nuoffer JM, Häberle J. Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.Mol Diagn Ther. 2016 20: 125-33 PubMed PMID: 26745957 
60. Miletta MC, Eblé A, Janner M, Parween S, Pandey AV, Flück CE, Mullis PE. IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion. J Clin Endocrinol Metab. 2015 100(12):E1575-83. doi:10.1210/jc.2015-3265. PubMed PMID: 26485222.
59. Zhuang L, Pandey AV, Villiger PM, Trueb B. Cell-cell fusion induced by the Ig3 domain of receptor FGFRL1 in CHO cells. Biochim Biophys Acta. 2015 1853:2273-85. doi: 10.1016/j.bbamcr.2015.05.027. PubMed PMID:26025674.
58. Udhane SS, Pandey AV, Hofer G, Mullis PE, Flück CE. Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis. Sci Rep. 2015 May 13;5:10132. doi: 10.1038/srep10132.PubMed PMID: 25970467; PubMed Central PMCID: PMC4429542.
57. Hu L, Pandey AV, Balmer C, Eggimann S, Rüfenacht V, Nuoffer JM, Häberle J. Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. J Inherit Metab Dis. 2015 38:815-27. doi:10.1007/s10545-014-9807-3. PMID: 25778938.
56. Pandey AV, Sproll P. Pharmacogenomics of human P450 oxidoreductase. Front Pharmacol. 2014 9;5:103. doi: 10.3389/fphar.2014.00103. PubMed PMID: 24847272

55. Flück, C.E. and Pandey, A.V. Steroidogenesis of the testis - New genes and pathways.  Annal d'Endocrinologie 75:40-47 (2014)

54. Bouchoucha, N; Samara-Boustani, D.; Pandey, A.V.; Bony-Trifunovic, H.; Hofer, G.; Aigrain, Y.; Polak, M. and Flück, C.E. Characterization of a novel CYP19A1 (aromatase) mutation causing vitilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnencies. Mol. Cell. Endocrinol. 390: 8-17 (2014) 

53. Balmer C, Pandey, AV, Wettstein V, Nuoffer JM, Fang P, Wong LJ and Häberle J. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Human Mutation 35: 37-35 (2014)

52. Hu L, Pandey AV, Eggimann S, Rüfenacht V, Möslinger D, Nuoffer JM, Häberle J. Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria. J Biol Chem.   288: 34599-611  (2013) 

51. Camats N, Pandey AV, Fernández-Cancio M, Fernández JM, Ortega AM, Udhane S, Andaluz P, Audí L, Flück CE. STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases. Clin Endocrinol ( Oxf). 2013 Jul 16. doi: 10.1111/cen.12293. 

50. Flück CE & Pandey, AV. P450 oxidoreductase deficiency (PORD).  InGenetic Steroid Disorders 125-143 (2013). 

49. Biason-Lauber, A; Pandey, AV; Miller WL & Flück CE . Marsupial pathways in humans. Genetic Steroid Disorders 215-224 (2013)

48. Biason-Lauber A, Miller WL, Pandey AV, Flück CE. Of marsupials and men:"Backdoor" dihydrotestosterone synthesis in male sexual differentiation.  Mol Cell Endocrinol.  371: 124-32 (2013).

47. Petkovic V, Miletta MC, Boot AM, Losekoot M, Flück CE, Pandey AV, Eblé A, Wit JM, Mullis PE. Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. Eur J Endocrinol. 2013 Feb 15;168(3):35-43. doi:10.1530/EJE-12-0847.

46. Pandey AV & Flück CE. NADPH P450 oxidorecutase: Structure, Function and Pathology of Diseases.  Pharmacol. Therapeutics. 138: 229-254 (2013).

45. Riddick DS, Ding X, Wolf CR, Porter TD, Pandey AV, Zhang QY, Gu J, Finn RD, Ronseaux S, McLaughlin LA, Henderson CJ, Zou L, Fluck CE. Ronseaux S, McLaughlin LA, Henderson CJ, Zou L, Fluck CE. NADPH-Cytochrome P450 oxidoreductase: Roles in Physiology, Pharmacology and Toxicology. Drug Metab. Dispos. 41: 12-23 (2013)

44. Pandey, AV. Bioinformatics tools and databases for the study of human growth hormone. Endocrine Dev.  23: 71-85 (2012).

43. Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, Moreno F,  Bereket A, Akcay T, García-García E, Muñoz MT, Gracia R, Nistal M, Castaño L, Mullis PE, Carrascosa A, Audí L, Flück CE. Ten Novel Mutations in the NR5A1 Gene Cause  Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals. J Clin Endocrinol Metab. 2012 Jul;97(7):E1294-306. 

42. Christa E. Flück, Monika Meyer-Böni, Amit V. Pandey, Petra Kempná, Walter L. Miller, Eugen J. Schoenle, and Anna Biason-Lauber. Why Boys will be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation. Am J Hum Genet 89: 201-218 2011). http://dx.doi.org/10.1016/j.ajhg.2011.06.009

41. Christa E. Flück, Delphine Mallet, Gaby Hofer, Dinane Samara-Boustani, Juliane Leger, Michel Polak, Yves Morel, Amit V. Pandey. Deletion on P399_E401 in NADPH P450 oxidoreductase results in partial mixed oxidase deficiency.Biochem Biophys Res Commun  412: 573-577 (2011). http://dx.doi.org/10.1016/j.bbrc.2011.08.001

40. Christa E. Flück, Amit V. Pandey , Bernhard Dick, Núria Camats, Mónica Fernández-Cancio, María Clemente3, Miquel Gussinyé, Antonio Carrascosa, Primus E. Mullis, Laura Audi. Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. PLOS One 6 (5):e20178 (2011).

39. Pandey AV & Mullis PE. Molecular genetics and bioinformatics methods for diagnosis of endocrine disorders. In Diagnostics of Endocrine Function in Children and Adolescents.ISBN: 3805594143 (2011). S Karger AG; 4th Revised Edition. pp 32-52.

38. Petkovic V; Eble A; Pandey AV; Betta M; Mella P; Flück CE; Buzi F; Mullis PE. A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. Growth Hormone & IGF Research  21: 160-166 (2011).

37. Flück CE, & Pandey AV. Clinical and biochemical consequences of P450 oxidoreductase deficiency. Endocr Dev. 20: 63-79 (2011).

36. Hirsch A, Audi L, Meimaridou E, Pandey AV, Clark, AJL and Flück, CE. Loss of the C-terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. J. Clin. Endocrinol. Metab. 96: 65-72 (2011).

35. Flück CE, Mullis PE & Pandey AV. Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism. Biochem. Biophys. Res. Commun. 401: 149-153 (2010).

34. Pandey AV, Flück CE & Mullis PE. Altered heme catabolism by heme oxygenase -1 caused by mutations in human NADPH cytochrome P450 reductase. Biochem. Biophys. Res. Commun. 400: 374-378 (2010)

33. Nicolo C, Flück CE, Mullis PE & Pandey AV. Restoration of mutant cytochrome P450 Oxidoreductase activity by external flavin. Mol Cell Endocrinol. 321: 245-252 (2010).

32. Petkovic V, Godi M, Pandey AV, Lochmatter D, Buchanan CR, Dattani MT, Eble A, Flück CE, Mullis PE. Growth Hormone (DH) Deficiency Type II: A Novel GH-1 Gene Mutation (GH-R178H) Affecting Secretion and Action. J. Clin Encocrinol. Metab. 95:731-739 (2010).

31. Flück CE, Mullis PE, Pandey AV. Modeling Of Human P450 Oxidoreductase Structure By In Silico Mutagenesis And MD Simulation. Mol Cell Endocrinol. 313: 17-22 (2009).

30. Sim SC, Miller WL, Zhong XB, Arlt W, Ogata T, Ding X, Wolf CR, Flück CE, Pandey AV, Henderson CJ, Porter TD, Daly AK, Nebert DW, Ingelman-Sundberg M. Nomenclature for alleles of the cytochrome P450 oxidoreductase gene.Pharmacogenet Genomics. 19: 565-5666 (2009).

29. Hooley, E, Papagrigoriou, E, Navdaev, A, Pandey, AV, Clemetson, JM, Clemetson, KJ. & Emsley, J. The Crystal structure of the platelet activator aggretin reveals a novel (ab)2 dimeric structure. Biochemistry, 47: 7831-7837 (2008).

28. Flück, CE, Pandey, AV, Huang, N, Agrawal, V & Miller WL. P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplacia. Endocr Dev, 13: 67-81 (2008).

27. Flück, CE., Nicolo, C & Pandey, AV. Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase Fundamental and Clinical Pharmacology, 21(4) 399-410 (2007).

26. Pandey, AV, Kempna, P, Hoffer, G, Mullis, PE & Flück, CE. Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. Molecular Endocrinology, 21:2579-2595 (2007).

25. Carolina M. Pepe; Nora I. Saraco; Maria Sonia Baquedano;Gabriela Guercio, Elisa Vaiani; Roxana Marino; Amit V Pandey; Christa E. Flück; Marco A. Rivarola and Alicia Belgorosky The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of non-classic aromatase deficiency, and it is also present in normal human steroidogenic tissues. Clinical Endocrinology 67:698-705 (2007).

24. Pandey AV. Biochemical analysis of mutations in P450 oxidoreductase. Biochemical Society Transactions. 34: 1186-1191 (2006).

23. Konrad, M, Schaller, A, Seelow, D, Pandey, AV., Siegfried Waldegger, Annegret Lesslauer, Helga Vitzthum, Yoshiro Suzuki, John M Luk, Christian Becker, Karl P Schlingmann, Marcel Schmid, Juan Rodriguez-Soriano, Gema Ariceta, Francisco Cano, Ricardo Enriquez, Harald Jueppner, Sevcan A Bakkaloglu, Matthias A Hediger, Sabina Gallati, Stephan CF Neuhauss, Peter Nürnberg, Stefanie Weber. Mutations in the tight junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure and severe ocular involvement. Am J Hum Genet 79:949-957 (2006).

22. Janer, M, Pandey, AV, Mullis, PE. and Fluck, CE. Clinical and biochemical description of a novel CYP21A2 gene mutation 962-963insA using a new 3D model for the P450c21 protein. Eur J. of Endocrinol. 155: 143-151 (2006).

21. Pandey, AV and Miller, WL. Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17. J. Biol Chem. 280: 13265-13271 (2005) April 08, Cover Page.

20. Miller WL, Huang N, Pandey AV., Fluck CE, Agrawal V. P450 oxidoreductase deficiency: a new disorder of steroidogenesis. Ann N Y Acad Sci.1061:100-108 (2005).

19. Huang, N; Pandey, AV; Agrawal, V; Reardon, W; Lapunzina, PD; Mowatt, D; Okamjima, K; Jabs, EW; vanVliet, G; Sack, J; Flück, CE and Miller, WL. Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet 76: 729-749 (2005).

18. Pandey, AV; Flück, CE; Huang, N; Tajima, T; Fuijeda, K and Miller, WL. P450 oxidoreductase deficiency: A new disorder of steroidogenesis affecting all microsomal P450 enzymes. Endocrine Res 30: 881-888 (2004)

17. Miller WL, Huang N, Flück CE and Pandey AV. P450 oxidoreductase deficiency. Lancet 364: 1663 (2004).

16. Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K and Miller WL. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature Genetics 36: 228-30 (2004).
 

15. Pandey AV, Mellon SH and Miller WL. Protein phosphatase 2A and phosphoprotein SET regulate androgen production by P450c17. J Biol Chem. 278:2837-2844 (2003).

14. Pandey AV; Babbarwal VK; Okoyeh JN; Joshi RM; Puri SK; Singh RL and Chauhan VS. Hemozoin formation in malaria: a two-step process involving histidine-rich proteins and lipids. Biochem Biophys Res Commun. 308:736-743 (2003).

13. Pandey, AV and Chauhan VS. New targets for malaria drug development. In Multi-Drug Resistance.(Mahajan, RC, Therwath, A. Edts), CRC Press LLC, Boca Rattan, FL 147-156, (2002).

12. Pandey AV; Bisht H; Babbarwal VK; Srivastava J; Pandey KC and Chauhan VS. Mechanism of malarial haem detoxification inhibition by chloroquine. Biochem J. 355:333-338 (2001).

11. Pandey, AV and Chauhan, VS New Drug targets in Malaria. In Emerging and re-emerging infections. Narosa Publications pp 122-127 (2000).

10. Pandey, AV; Tekwani, BL; Singh, RL and Chauhan VS. Artemisinin, an endoperoxide antimalarial, disrupts the hemoglobin catabolism and heme detoxification systems in malarial parasite. J Biol Chem. 274:19383-19388 (1999).

9. Pandey AV; Singh N; Tekwani BL; Puri SK and Chauhan VS. Assay of beta-hematin formation by malaria parasite. J Pharm Biomed Anal. 20:203-207 (1999).

8. Pandey AV; Joshi SK; Tekwani BL and Chauhan VS. A colorimetric assay for heme in biological samples using 96-well plates. Anal Biochem. 268:159-161 (1999).

7. Pandey, AV and Chauhan, VS Heme polymerisation by malarial parasite : A potential target for antimalarial drug development. Current Sc. 75:911-918 (1998).

6. Pandey AV; Joshi R; Tekwani BL; Singh RL and Chauhan VS. Synthetic peptides corresponding to a repetitive sequence of malarial histidine rich protein bind haem and inhibit haemozoin formation in vitro. Mol Biochem Parasitol.90:281-287 (1997).

5. Pandey AV and Tekwani BL. Depolymerization of malarial hemozoin: a novel reaction initiated by blood schizontocidal antimalarials. FEBS Lett. 1997 402:236-240 (1997).

4. Pandey AV and Tekwani BL. Identification and quantification of haemozoin: Some additional facts. Parasitol Today.12:370 (1996).

3. Pandey AV and Tekwani BL. Formation of haemozoin/beta-haematin under physiological conditions is not spontaneous. FEBS Lett. 393:189-193 (1996).

2. Pandey, AV; Srivastava, P; Tekwani, BL and Pandey, VC Effect of Plasmodium yoelii infection on constitutive and phenobarbitone inducible mixed function oxidase system of mice. J. Parasit. Dis. 20:141-144 (1996).

1. Pandey, AV, Tekwani, BL and Pandey, VC Characterisation of hemozoin from liver and spleen of mice infected with Plasmodium yoelii, a rodent malaria parasite. Biomed. Res. 16:115-120 (1995).

Contact

PD Dr. Amit V Pandey
Pediatric Endocrinology, Diabetology and Metabolism,

KIKL C837, Inselspital

University Children's Hospital Bern,

Freiburgstrasse 15, 3010 Bern

Switzerland


Tel: +41 31 632 9637 (Office)

        +41 31 632 9527 (Lab)

E-mail: amit@pandeylab.org

 

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