Irene Ceballos-Picot

Summary

Country: France

Publications

  1. pmc Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
    Irene Ceballos-Picot
    School of Medicine, Paris Descartes University, 75006 Paris, France
    Hum Mol Genet 18:2317-27. 2009
  2. pmc Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase
    Irene Ceballos-Picot
    Department of Metabolic Biochemistry, Hopital Necker Enfants Malades, AP HP, 149 rue de Sevres, 75015 Paris, France School of Medicine, Paris Descartes University Sorbonne Paris Cité, 15 rue de l Ecole de Medecine, 75006 Paris, France Electronic address
    Mol Genet Metab 110:268-74. 2013
  3. pmc Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency
    Guillaume Bollée
    Department of Nephrology, Centre de Référence des Maladies Rénales Héréditaires, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
    J Am Soc Nephrol 21:679-88. 2010

Collaborators

  • H A Jinnah
  • Julia Fuchs
  • Guillaume Bollée
  • Lucile Boutaud
  • Jérôme Harambat
  • Delphine Guillemot
  • Albert Bensman
  • Cécile Dollinger
  • Patrice Deteix
  • Michel Daudon
  • Bertrand Knebelmann

Detail Information

Publications3

  1. pmc Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
    Irene Ceballos-Picot
    School of Medicine, Paris Descartes University, 75006 Paris, France
    Hum Mol Genet 18:2317-27. 2009
    ..These results provide novel evidence that HPRT deficiency may affect dopaminergic neurons by influencing early developmental mechanisms...
  2. pmc Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase
    Irene Ceballos-Picot
    Department of Metabolic Biochemistry, Hopital Necker Enfants Malades, AP HP, 149 rue de Sevres, 75015 Paris, France School of Medicine, Paris Descartes University Sorbonne Paris Cité, 15 rue de l Ecole de Medecine, 75006 Paris, France Electronic address
    Mol Genet Metab 110:268-74. 2013
    ..Leu68Pro mutation has a strong impact on PRPP binding and on stability of the active conformation. This suggests that factors other than HGprt activity per se may influence the phenotype of Lesch-Nyhan patients. ..
  3. pmc Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency
    Guillaume Bollée
    Department of Nephrology, Centre de Référence des Maladies Rénales Héréditaires, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
    J Am Soc Nephrol 21:679-88. 2010
    ..Early diagnosis is crucial for initiation of effective treatment with allopurinol and for prevention of renal complications...