Amit Pandey

Summary

Affiliation: University of Bern
Location: Bern, Switzerland
URL: http://www.pandeylab.org

Publications

  1. ncbi 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
    Vibor Petkovic
    Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University Children s Hospital Bern, Inselspital, CH 3010 Bern, Switzerland
    Eur J Endocrinol 168:K35-43. 2013
  2. doi Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism
    Christa E Flück
    Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Tiefenaustrasse 120c, CH 3004 Bern, Switzerland
    Biochem Biophys Res Commun 401:149-53. 2010
  3. doi Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase
    Amit V Pandey
    Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Tiefenaustrasse 120c, CH 3004 Bern, Switzerland
    Biochem Biophys Res Commun 400:374-8. 2010
  4. doi Restoration of mutant cytochrome P450 reductase activity by external flavin
    Catherine Nicolo
    Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Bern, Switzerland
    Mol Cell Endocrinol 321:245-52. 2010
  5. doi Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action
    Vibor Petkovic
    University Children s Hospital, Pediatric Endocrinology, Inselspital CH 3010 Bern, Switzerland
    J Clin Endocrinol Metab 95:731-9. 2010
  6. doi Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation
    Christa E Flück
    Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Tiefenaustrasse 120c, 3004 Bern, Switzerland
    Mol Cell Endocrinol 313:17-22. 2009
  7. doi The crystal structure of the platelet activator aggretin reveals a novel (alphabeta)2 dimeric structure
    Elizabeth Hooley
    Centre for Biomolecular Sciences, School of Pharmacy, University of Nottingham, UK
    Biochemistry 47:7831-7. 2008
  8. doi P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia
    Christa E Flück
    Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics, University of Bern, Bern, Switzerland
    Endocr Dev 13:67-81. 2008
  9. doi Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity
    Andrea Hirsch
    Pediatric Endocrinology and Diabetology, University Children s Hospital Bern, Bern, Switzerland
    J Clin Endocrinol Metab 96:E65-72. 2011
  10. doi Clinical and biochemical consequences of p450 oxidoreductase deficiency
    Christa E Flück
    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University Children s Hospital Bern, Freiburgstrasse 15, Bern, Switzerland
    Endocr Dev 20:63-79. 2011

Collaborators

Detail Information

Publications42

  1. ncbi 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
    Vibor Petkovic
    Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University Children s Hospital Bern, Inselspital, CH 3010 Bern, Switzerland
    Eur J Endocrinol 168:K35-43. 2013
    ..Short stature caused by biologically inactive GH is clinically characterized by lack of GH action despite normal-high secretion of GH, pathologically low IGF1 concentrations and marked catch-up growth on GH replacement therapy...
  2. doi Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism
    Christa E Flück
    Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Tiefenaustrasse 120c, CH 3004 Bern, Switzerland
    Biochem Biophys Res Commun 401:149-53. 2010
    ..Loss of CYP3A4 activity may result in increased risk of drug toxicities and adverse drug reactions in patients with POR mutations...
  3. doi Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase
    Amit V Pandey
    Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Tiefenaustrasse 120c, CH 3004 Bern, Switzerland
    Biochem Biophys Res Commun 400:374-8. 2010
    ..Further examination of patients affected with POR deficiency will be required to assess the metabolic effects of reduced HO-1 activity in affected individuals...
  4. doi Restoration of mutant cytochrome P450 reductase activity by external flavin
    Catherine Nicolo
    Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Bern, Switzerland
    Mol Cell Endocrinol 321:245-52. 2010
    ..Using FMN supplemented assays we have demonstrated restoration of the defective POR activity in vitro...
  5. doi Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action
    Vibor Petkovic
    University Children s Hospital, Pediatric Endocrinology, Inselspital CH 3010 Bern, Switzerland
    J Clin Endocrinol Metab 95:731-9. 2010
    ....
  6. doi Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation
    Christa E Flück
    Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Tiefenaustrasse 120c, 3004 Bern, Switzerland
    Mol Cell Endocrinol 313:17-22. 2009
    ..This model will be used for analyzing the structural implications of mutations and polymorphisms in human POR...
  7. doi The crystal structure of the platelet activator aggretin reveals a novel (alphabeta)2 dimeric structure
    Elizabeth Hooley
    Centre for Biomolecular Sciences, School of Pharmacy, University of Nottingham, UK
    Biochemistry 47:7831-7. 2008
    ....
  8. doi P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia
    Christa E Flück
    Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics, University of Bern, Bern, Switzerland
    Endocr Dev 13:67-81. 2008
    ..Thus, the impact of POR mutations on drug metabolism by hepatic P450s requires further investigation...
  9. doi Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity
    Andrea Hirsch
    Pediatric Endocrinology and Diabetology, University Children s Hospital Bern, Bern, Switzerland
    J Clin Endocrinol Metab 96:E65-72. 2011
    ..We identified a novel MC2R mutation, K289fs. This unique mutation in the C terminus of MC2R is located in the intracellular part of the protein for which the exact function is unknown...
  10. doi Clinical and biochemical consequences of p450 oxidoreductase deficiency
    Christa E Flück
    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University Children s Hospital Bern, Freiburgstrasse 15, Bern, Switzerland
    Endocr Dev 20:63-79. 2011
    ..POR variants may also affect skeletal development and drug metabolism. As most drugs are metabolized by hepatic microsomal P450 enzymes, studies of the impact of POR mutations on drug-metabolizing P450s are particularly important...
  11. doi A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome
    Vibor Petkovic
    University Children s Hospital, Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, Bern, Switzerland
    Growth Horm IGF Res 21:160-6. 2011
    ....
  12. doi Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation
    Anna Biason-Lauber
    Department of Medicine, Division of Endocrinology, University of Fribourg, Chemin du Musee 5, 1700 Fribourg, Switzerland
    Mol Cell Endocrinol 371:124-32. 2013
    ..These observations indicate that fetal dihydrotestosterone acts both as a hormone and as a paracrine factor, substantially revising the classic paradigm for fetal male sexual development...
  13. doi NADPH P450 oxidoreductase: structure, function, and pathology of diseases
    Amit V Pandey
    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University Children s Hospital Bern, and Department of Clinical Research, University of Bern, 3004 Bern, Switzerland
    Pharmacol Ther 138:229-54. 2013
    ..The review is focused on the structural, enzymatic and clinical implications of the mutations linked to newly identified disorders in humans, now categorized as POR deficiency...
  14. doi Bioinformatics tools and databases for the study of human growth hormone
    Amit V Pandey
    Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, and University Children s Hospital Bern, Bern, Switzerland
    Endocr Dev 23:71-85. 2012
    ..In this chapter, an overview of some basic bioinformatics resources that are needed to study metabolic disorders are reviewed and some examples of bioinformatics analysis of human growth hormone gene, protein and structure are provided...
  15. pmc NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology
    David S Riddick
    Department of Pharmacology and Toxicology, Medical Sciences Building, University of Toronto, Toronto, Ontario, Canada M5S 1A8
    Drug Metab Dispos 41:12-23. 2013
    ..The symposium concluded with a strong translational perspective, relating the basic science of human POR structure and function to the impacts of POR genetic variation on human drug and steroid metabolism...
  16. doi Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
    N Camats
    Pediatric Endocrinology Research Unit, Hospital Vall d Hebron, Passeig Vall d Hebron 119, Barcelona 08035, Spain
    J Clin Endocrinol Metab 97:E1294-306. 2012
    ..NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI)...
  17. doi Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency
    Christa E Flück
    Pediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital, Bern, Switzerland
    Biochem Biophys Res Commun 412:572-7. 2011
    ....
  18. pmc Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation
    Christa E Flück
    Department of Pediatric Endocrinology, Diabetology and Metabolism, University Children s Hospital Bern, University of Bern, Switzerland
    Am J Hum Genet 89:201-18. 2011
    ....
  19. pmc Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia
    Christa E Flück
    Pediatric Endocrinology and Diabetology, University Children s Hospital Bern, Bern, Switzerland
    PLoS ONE 6:e20178. 2011
    ..Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH)...
  20. ncbi Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase
    Christa E Flück
    Department of Pediatrics Endocrinology, University Children s Hospital, Freiburgstrasse 15, 3010 Bern, Switzerland
    Fundam Clin Pharmacol 21:399-410. 2007
    ....
  21. ncbi The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues
    Carolina M Pepe
    Molecular Biology Laboratory, Endocrinology Department, J P Garrahan Paediatric Hospital, Buenos Aires, Argentina
    Clin Endocrinol (Oxf) 67:698-705. 2007
    ..To explain the phenotype of partial aromatase deficiency observed in a female patient described with this mutation, molecular consequences of the c655G>A mutation were investigated...
  22. ncbi Hemozoin formation in malaria: a two-step process involving histidine-rich proteins and lipids
    Amit V Pandey
    Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143 0978, USA
    Biochem Biophys Res Commun 308:736-43. 2003
    ....
  23. ncbi Protein phosphatase 2A and phosphoprotein SET regulate androgen production by P450c17
    Amit V Pandey
    Department of Pediatrics, University of California, San Francisco, California 94143 0978, USA
    J Biol Chem 278:2837-44. 2003
    ..The identification of PP2A and SET as post-translational regulators of androgen biosynthesis suggests potential additional mechanisms contributing to adrenarche and hyperandrogenic disorders such as polycystic ovary syndrome...
  24. pmc Mechanism of malarial haem detoxification inhibition by chloroquine
    A V Pandey
    Malaria Research Group, International Center for Genetic Engineering and Biotechnology (ICGEB, Aruna Asaf Ali Marg, New Delhi 110067, India
    Biochem J 355:333-8. 2001
    ..Moreover, the higher affinity of chloroquine for haem than Pfhrp-2 suggests a possible mechanism of action for chloroquine; it may remove the haem bound to Pfhrp-2 and form a complex that is toxic to the parasite...
  25. ncbi Artemisinin, an endoperoxide antimalarial, disrupts the hemoglobin catabolism and heme detoxification systems in malarial parasite
    A V Pandey
    Malaria Research Group, International Centre for Genetic Engineering and Biotechnology, Aruna Asaf Ali Marg, P O Box 10504, New Delhi 110 067, India
    J Biol Chem 274:19383-8. 1999
    ....
  26. ncbi Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
    Christa E Flück
    Department of Pediatrics, University of California San Francisco, San Francisco, California 94143 0978, USA
    Nat Genet 36:228-30. 2004
    ..Mutations of POR also affect drug-metabolizing P450 enzymes, explaining the association of ABS with maternal fluconazole ingestion...
  27. ncbi P450 oxidoreductase deficiency
    Walter L Miller
    Lancet 364:1663. 2004
  28. ncbi Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase
    Amit V Pandey
    Pediatric Endocrinology and Diabetology, University of Bern, Freiburgstrasse 15, G3 812, CH 3010 Bern, Switzerland
    Mol Endocrinol 21:2579-95. 2007
    ..Because POR supports many P450s involved in steroidogenesis, bone formation, and drug metabolism, variations in the effects of POR mutations on specific enzyme activities may explain the broad clinical spectrum of POR deficiency...
  29. ncbi Biochemical analysis of mutations in P450 oxidoreductase
    A V Pandey
    Theodor Kocher Institute, University of Bern, Freiestrasse 1, CH 3010 Bern, Switzerland
    Biochem Soc Trans 34:1186-91. 2006
    ..Understanding the genetic and biochemical basis of POR-mediated drug metabolism will provide valuable information about possible differences in P450-mediated reactions among the individuals carrying a variant or polymorphic form of POR...
  30. pmc Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
    Martin Konrad
    University Children s Hospital, Inselspital, Bern, Switzerland
    Am J Hum Genet 79:949-57. 2006
    ....
  31. ncbi Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein
    Marco Janner
    Pediatric Endocrinology and Diabetology, University Children s Hospital Bern, Bern, Switzerland
    Eur J Endocrinol 155:143-51. 2006
    ..This 962_963insA mutation created a frameshift leading to a stop codon at amino acid 161 of the P450c21 protein...
  32. ncbi P450 oxidoreductase deficiency: a new disorder of steroidogenesis
    Walter L Miller
    Department of Pediatrics, Bldg MR IV, Room 209, University of California, San Francisco, San Francisco 94143 0978, USA
    Ann N Y Acad Sci 1061:100-8. 2005
    ..POR deficiency is a new disease, distinct from the craniosynostosis syndromes caused by FGFR mutations...
  33. pmc Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
    Ningwu Huang
    Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143 0978, USA
    Am J Hum Genet 76:729-49. 2005
    ....
  34. ncbi Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17
    Amit V Pandey
    Department of Pediatrics and the Metabolic Research Unit, University of California San Francisco, San Francisco, California 94143 0978, USA
    J Biol Chem 280:13265-71. 2005
    ..Cytochrome b5 and phosphorylation enhance 17,20 lyase activity independently of each other, probably by increasing the interaction between P450c17 and NADPH-cytochrome P450 oxidoreductase...
  35. ncbi P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes
    Amit V Pandey
    Department of Pediatrics, University of California San Francisco, San Francisco, California 94143 0978, USA
    Endocr Res 30:881-8. 2004
    ..POR deficiency is a new disorder of adrenal and gonadal steroidogenesis that affects all microsomal cytochrome P450 enzymes, hence may have important implications for genetic differences in drug metabolism...