- Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesisIrene 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...
- New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patientsIrene 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...
- Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferaseIrene 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. ..
- Adenine phosphoribosyltransferase deficiencyGuillaume 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...
- Transcriptomic approach to Lesch-Nyhan diseaseLuce 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. ..
- 2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolismIrene 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....
- A human neuronal tissue culture model for Lesch-Nyhan diseaseThomas 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...
- Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferaseHang 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...
- Misleading behavioural phenotype with adenylosuccinate lyase deficiencyCyril 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...
- Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiencyGuillaume 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...
- Speech disturbances in patients with dystonia or chorea due to neurometabolic disordersConstance 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...