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 Misleading behavioural phenotype with adenylosuccinate lyase deficiency
    Cyril Gitiaux
    Departement de Pediatrie, Hoôpital Necker Enfants Malades, AP HP, Universite Paris Descartes, Paris, France
    Eur J Hum Genet 17:133-6. 2009
  4. doi request reprint Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders
    Constance Flamand-Rouvière
    Service de Neurologie, CHU de Bicetre, AP HP, Le Kremlin Bicetre, France
    Mov Disord 25:1605-11. 2010
  5. 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

Detail Information

Publications5

  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 Misleading behavioural phenotype with adenylosuccinate lyase deficiency
    Cyril Gitiaux
    Departement de Pediatrie, Hoôpital Necker Enfants Malades, AP HP, Universite Paris Descartes, Paris, France
    Eur J Hum Genet 17:133-6. 2009
    ..On the basis of this observation, although adenylosuccinate lyase deficiency is a rare disorder, this diagnosis should be considered in patients with mental retardation and a behavioural profile suggestive of Angelman syndrome...
  4. doi request reprint Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders
    Constance Flamand-Rouvière
    Service de Neurologie, CHU de Bicetre, AP HP, Le Kremlin Bicetre, France
    Mov Disord 25:1605-11. 2010
    ..These findings have important implications for speech rehabilitation, and may provide new insights into the pathophysiology of dystonia due to neurometabolic disorders...
  5. 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...