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 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients
    Irene Ceballos-Picot
    Laboratoire de Biochimie Métabolomique et protéomique, Hopital Necker Enfants Malades, AP HP, 149 rue de Sevres, Paris, 75015, France
    Orphanet J Rare Dis 10:7. 2015
  3. 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
  4. ncbi request reprint Adenine phosphoribosyltransferase deficiency
    Guillaume Bollée
    Association pour l Utilisation du Rein Artificiel and Inserm U970, Paris, France
    Clin J Am Soc Nephrol 7:1521-7. 2012
  5. pmc Transcriptomic approach to Lesch-Nyhan disease
    Luce Dauphinot
    a CRICM, UPMC Hôpital de la Pitié Salpêtrière, Paris, France
    Nucleosides Nucleotides Nucleic Acids 33:208-17. 2014
  6. doi request reprint 2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism
    Irene Ceballos-Picot
    a Université Paris Descartes, Assistance Publique Hopitaux de Paris, Laboratoire de Biochimie Métabolomique et protéomique, Hopital Necker Enfants Malades, Paris, France
    Nucleosides Nucleotides Nucleic Acids 33:241-52. 2014
  7. ncbi request reprint A human neuronal tissue culture model for Lesch-Nyhan disease
    Thomas L Shirley
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA, and Department of Biology, Necker Enfants Malades Hospital, Paris, France
    J Neurochem 101:841-53. 2007
  8. pmc Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase
    Hang Korng Ea
    Hopital Lariboisiere, INSERM UMR S 606, Paris, France
    Arthritis Rheum 60:2201-4. 2009
  9. 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
  10. 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

Publications11

  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 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients
    Irene Ceballos-Picot
    Laboratoire de Biochimie Métabolomique et protéomique, Hopital Necker Enfants Malades, AP HP, 149 rue de Sevres, Paris, 75015, France
    Orphanet J Rare Dis 10:7. 2015
    ..We therefore searched for metabolic changes that would facilitate an early diagnosis and give potential clues on the disease pathogenesis and potential therapeutic approaches...
  3. 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. ..
  4. ncbi request reprint Adenine phosphoribosyltransferase deficiency
    Guillaume Bollée
    Association pour l Utilisation du Rein Artificiel and Inserm U970, Paris, France
    Clin J Am Soc Nephrol 7:1521-7. 2012
    ..This review summarizes the genetic and metabolic mechanisms underlying stone formation and renal disease, along with the diagnosis and management of APRT deficiency...
  5. pmc Transcriptomic approach to Lesch-Nyhan disease
    Luce Dauphinot
    a CRICM, UPMC Hôpital de la Pitié Salpêtrière, Paris, France
    Nucleosides Nucleotides Nucleic Acids 33:208-17. 2014
    ..These affected genes belonged to specific processes such as cell cycle and cell-division processes, metabolic and nucleic acid processes, demonstrating the specific nature of the changes and providing new insights into LND pathogenesis. ..
  6. doi request reprint 2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism
    Irene Ceballos-Picot
    a Université Paris Descartes, Assistance Publique Hopitaux de Paris, Laboratoire de Biochimie Métabolomique et protéomique, Hopital Necker Enfants Malades, Paris, France
    Nucleosides Nucleotides Nucleic Acids 33:241-52. 2014
    ....
  7. ncbi request reprint A human neuronal tissue culture model for Lesch-Nyhan disease
    Thomas L Shirley
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA, and Department of Biology, Necker Enfants Malades Hospital, Paris, France
    J Neurochem 101:841-53. 2007
    ..These cells combine the analytical power of multiple lines and a human, neuronal origin to provide an important tool to investigate the pathophysiology of HPRT deficiency...
  8. pmc Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase
    Hang Korng Ea
    Hopital Lariboisiere, INSERM UMR S 606, Paris, France
    Arthritis Rheum 60:2201-4. 2009
    ..Careful neurologic examination is warranted in juvenile and middle-aged patients with gout, in order to detect mild symptoms that may lead to a diagnosis of HPRT deficiency...
  9. 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...
  10. 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...
  11. 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...