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1

Récidive d’une néphropathie sur transplant rénal du à un déficit en Adénine Phosphoribosyltransférase (APRT)

Doucet, L., Bigot, J.C., Moal, M.C., Mahe, J.L., Leonetti, F., Turlin, B., Daudon, M., Ceballos Picot, I., Bourbigot, B.

Journal:

Annales de Pathologie

Year:

2004

Language:

french

File:

PDF, 70 KB

french, 2004

2

2,8-Dihydroxyadenine Urolithiasis: A Not So Rare Inborn Error of Purine Metabolism

Ceballos-Picot, Irène, Daudon, Michel, Harambat, Jérôme, Bensman, Albert, Knebelmann, Bertrand, Bollée, Guillaume

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2014

Language:

english

File:

PDF, 308 KB

english, 2014

3

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients

Ceballos-Picot, Irène, Le Dantec, Aurélia, Brassier, Anaïs, Jaïs, Jean-Philippe, Ledroit, Morgan, Cahu, Julie, Ea, Hang-Korng, Daignan-Fornier, Bertrand, Pinson, Benoît

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 911 KB

english, 2015

4

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

Bernard Aral, Geneviève de Saint Basile, Sami Al-Garawi, Pierre Kamoun, Irène Ceballos-Picot

Journal:

Year:

1996

Language:

english

File:

PDF, 685 KB

english, 1996

5

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: A report on three patients

Patrick Edery, Stéphane Chabrier, Irène Ceballos-Picot, Sandrine Marie, Marie-Françoise Vincent, Marc Tardieu

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 229 KB

english, 2003

6

Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase

Hang-Korng Ea, Thomas Bardin, H. A. Jinnah, Bernard Aral, Frédéric Lioté, Irène Ceballos-Picot

Journal:

Arthritis & Rheumatism

Year:

2009

Language:

english

File:

PDF, 191 KB

english, 2009

7

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations

Guang Liu, Bernard Aral, Marie-Thérèse Zabot, Pierre Kamoun, Irène Ceballos-Picot

Journal:

Year:

1998

Language:

english

File:

PDF, 259 KB

english, 1998

8

Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants

Radhika Sampat, Rong Fu, Laura E. Larovere, Rosa J. Torres, Irene Ceballos-Picot, Michel Fischbach, Raquel de Kremer, David J. Schretlen, Juan Garcia Puig, H. A. Jinnah

Journal:

Year:

2011

Language:

english

File:

PDF, 405 KB

english, 2011

9

Adenine phosphoribosyltransferase deficiency in children

Jérôme Harambat, Guillaume Bollée, Michel Daudon, Irène Ceballos-Picot, Albert Bensman, APRT Study Group

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 250 KB

english, 2012

10

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency

I Ceballos-Picot, G Guest, V Moriniere, L Mockel, M Daudon, V Malan, C Antignac, L Heidet

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 675 KB

english, 2011

11

A human neuronal tissue culture model for Lesch-Nyhan disease

Thomas L. Shirley, J. Chris Lewers, Kiyoshi Egami, Alokes Majumdar, Mairead Kelly, Irene Ceballos-Picot, Michael M. Seidman, H. A. Jinnah

Journal:

Journal of Neurochemistry

Year:

2007

Language:

english

File:

PDF, 664 KB

english, 2007

12

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

13

Clinical utility gene card for: Lesch–Nyhan syndrome

Torres, Rosa J, Puig, Juan G, Ceballos-Picot, Irène

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 160 KB

english, 2010

14

Aloisines, a New Family of CDK/GSK-3 Inhibitors. SAR Study, Crystal Structure in Complex with CDK2, Enzyme Selectivity, and Cellular Effects

Mettey, Yvette, Gompel, Marie, Thomas, Virginie, Garnier, Matthieu, Leost, Maryse, Ceballos-Picot, Irène, Noble, Martin, Endicott, Jane, Vierfond, Jean-michel, Meijer, Laurent

Journal:

Journal of Medicinal Chemistry

Year:

2003

Language:

english

File:

PDF, 658 KB

english, 2003

15

Neuronal-specific expression of copper-zinc superoxide dismutase gene in transgenic mice: Animal model of gene dosage effect in down's syndrome

I. Ceballos-Picot, A. Nicole, P. Briand, G. Grimber, F. Javoy-Agid, M. Lafon, P.M. Sinet

Journal:

Free Radical Biology and Medicine

Year:

1990

Language:

english

File:

PDF, 108 KB

english, 1990

16

Peripheral antioxidant enzyme activities and selenium in elderly subjects and in dementia of Alzheimer's type—Place of the extracellular glutathione peroxidase

IrÈne Ceballos-Picot, Mansouria Merad-Boudia, Annie Nicole, Marc Thevenin, Georgette Hellier, Sylvie Legrain, Claudine Berr

Journal:

Free Radical Biology and Medicine

Year:

1996

Language:

english

File:

PDF, 840 KB

english, 1996

17

Glutathione antioxidant system as a marker of oxidative stress in chronic renal failure

IrÈne Ceballos-Picot, Véronique Witko-Sarsat, Mansouria Merad-Boudia, Anh Thu Nguyen, Marc Thévenin, Marie Chantal Jaudon, Johanna Zingraff, Christian Verger, Paul Jingers, Béatrice Descamps-Latscha

Journal:

Free Radical Biology and Medicine

Year:

1996

Language:

english

File:

PDF, 1.05 MB

english, 1996

18

Diagnostic de déficit en adénine phosphoribosyl transférase (APRT) : il n’est jamais trop tard

J. Adam, G. Bollée, W. Kohn, A. Servais, O. Qamous, I. Ceballos-Picot, M. Daudon, L.H. Noël

Journal:

Néphrologie & Thérapeutique

Year:

2012

Language:

french

File:

PDF, 79 KB

french, 2012

19

Mitochondrial impairment as an early event in the process of apoptosis induced by glutathione depletion in neuronal cells: relevance to Parkinson’s disease

Mansouria Merad-Boudia, Annie Nicole, Dominique Santiard-Baron, Christophe Saillé, Irène Ceballos-Picot

Journal:

Biochemical Pharmacology

Year:

1998

Language:

english

File:

PDF, 614 KB

english, 1998

20

The amyloid peptide induces early genotoxic damage in human preneuron NT2

Dominique Santiard-Baron, Aurélien Lacoste, Sophie Ellouk-Achard, Cathia Soulié, Annie Nicole, Alain Sarasin, Irène Ceballos-Picot

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Year:

2001

Language:

english

File:

PDF, 191 KB

english, 2001

21

Decreased Kidney Function and Crystal Deposition in the Tubules After Kidney Transplant

Piero Stratta, Giovanni Battista Fogazzi, Caterina Canavese, Andrea Airoldi, Roberta Fenoglio, Cristina Bozzola, Irène Ceballos-Picot, Guillaume Bollée, Michel Daudon

Journal:

American Journal of Kidney Diseases

Year:

2010

Language:

english

File:

PDF, 1.14 MB

english, 2010

22

Recruitment of Several Neuroprotective Pathways after Permanent Focal Ischemia in Mice

Christelle Guégan, Irène Ceballos-Picot, Annie Nicole, Hanafusa Kato, Brigitte Onténiente, Brigitte Sola

Journal:

Experimental Neurology

Year:

1998

Language:

english

File:

PDF, 1.09 MB

english, 1998

23

Identification of β-Amyloid-Responsive Genes by RNA Differential Display: Early Induction of a DNA Damage-Inducible Gene, gadd45

Dominique Santiard-Baron, Philippe Gosset, Annie Nicole, Pierre-Marie Sinet, Yves Christen, Irene Ceballos-Picot

Journal:

Experimental Neurology

Year:

1999

Language:

english

File:

PDF, 205 KB

english, 1999

24

Overproduction of Cu/Zn-Superoxide Dismutase or Bcl-2 Prevents the Brain Mitochondrial Respiratory Dysfunction Induced by Glutathione Depletion

Mansouria Mérad-Saı̈doune, Eric Boitier, Annie Nicole, Cécile Marsac, Jean Claude Martinou, Brigitte Sola, Pierre-Marie Sinet, Irène Ceballos-Picot

Journal:

Experimental Neurology

Year:

1999

Language:

english

File:

PDF, 152 KB

english, 1999

25

Neuronal-specific expression of human copper-zinc superoxide dismutase gene in transgenic mice: animal model of gene dosage effects in Down's syndrome

I. Ceballos-Picot, A. Nicole, P. Briand, G. Grimber, A. Delacourte, A. Defossez, F. Javoy-Agid, M. Lafon, J.L. Blouin, P.M. Sinet

Journal:

Year:

1991

Language:

english

File:

PDF, 25.11 MB

english, 1991

26

Prise en charge thérapeutique du syndrome de Lesch-Nyhan en France : enquête sur 16 patients

E. Rouleau, I. Ceballos-Picot, J.-L. Pérignon

Journal:

Archives de Pédiatrie

Year:

2006

Language:

french

File:

PDF, 133 KB

french, 2006

27

Changes in activities of superoxide dismutase, nitric oxide synthase, glutathione-dependent enzymes and the incidence of apoptosis in sheep corpus luteum during the estrous cycle

Kaïs H. Al-Gubory, Irène Ceballos-Picot, Annie Nicole, Philippe Bolifraud, Guy Germain, Marie Michaud, Camille Mayeur, François Blachier

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

2005

Language:

english

File:

PDF, 383 KB

english, 2005

28

Examination of stress-related genes in human temporal versus occipital cortex in the course of neurodegeneration: involvement of 14-3-3 zeta in this dynamic process

Cathia Soulié, Annie Nicole, André Delacourte, Irène Ceballos-Picot

Journal:

Neuroscience Letters

Year:

2004

Language:

english

File:

PDF, 178 KB

english, 2004

29

Consequences of impaired purine recycling in dopaminergic neurons

J.C. Lewers, I. Ceballos-Picot, T.L. Shirley, L. Mockel, K. Egami, H.A. Jinnah

Journal:

Year:

2008

Language:

english

File:

PDF, 375 KB

english, 2008

30

Reduction of cortical infarction and impairment of apoptosis in NGF-transgenic mice subjected to permanent focal ischemia

Christelle Guégan, Brigitte Onténiente, Yaeko Makiura, Mansouria Merad-Boudia, Irène Ceballos-Picot, Brigitte Sola

Journal:

Molecular Brain Research

Year:

1998

Language:

english

File:

PDF, 3.12 MB

english, 1998

31

Transgenic murine cortical neurons expressing human Bcl-2 exhibit increased resistance to amyloid β-peptide neurotoxicity

C Saillé, P Marin, J.-C Martinou, A Nicole, J London, I Ceballos-Picot

Journal:

Year:

1999

Language:

english

File:

PDF, 334 KB

english, 1999

32

Direct evidence for glutathione as mediator of apoptosis in neuronal cells

A Nicole, D Santiard-Baron, I Ceballos-Picot

Journal:

Biomedicine & Pharmacotherapy

Year:

1998

Language:

english

File:

PDF, 641 KB

english, 1998

33

Présentation clinique, diagnostic et devenir des formes pédiatriques de déficit en adénine phosphoribosyltransférase (APRT)

J. Harambat, G. Bollée, M. Daudon, A. Godron, T. Boussemart, C. Dheu, A. Garnier, G. Guest, J.F. Subra, S. Taque, I. Ceballos-Picot, A. Bensman

Journal:

Néphrologie & Thérapeutique

Year:

2011

Language:

french

File:

PDF, 50 KB

french, 2011

34

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

Martinelli, D., Travaglini, L., Drouin, C. A., Ceballos-Picot, I., Rizza, T., Bertini, E., Carrozzo, R., Petrini, S., de Lonlay, P., El Hachem, M., Hubert, L., Montpetit, A., Torre, G., Dionisi-Vici,

Journal:

Year:

2013

Language:

english

File:

PDF, 847 KB

english, 2013

35

Adenine Phosphoribosyltransferase Deficiency

Bollee, G., Harambat, J., Bensman, A., Knebelmann, B., Daudon, M., Ceballos-Picot, I.

Journal:

Clinical Journal of the American Society of Nephrology

Year:

2012

Language:

english

File:

PDF, 933 KB

english, 2012

36

Preferential expression of superoxide dismutase messenger RNA in melanized neurons in human mesencephalon

Zhang, P., Damier, P., Hirsch, E.C., Agid, Y., Ceballos-Picot, I., Sinet, P.M., Nicole, A., Laurent, M., Javoy-Agid, F.

Journal:

Year:

1993

Language:

english

File:

PDF, 2.64 MB

english, 1993

37

Expression and Activity of Cyclin-Dependent Kinases and Glycogen Synthase Kinase-3 during NT2 Neuronal Differentiation

Gompel, Marie, Souli&eacute, , Cathia, Ceballos-Picot, Ir&egrave, ne, Meijer, Laurent

Journal:

Year:

2004

Language:

english

File:

PDF, 298 KB

english, 2004

38

Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child

Rebai, Ibtihel, Kraoua, Ichraf, Benrhouma, Hanene, Rouissi, Aida, Turki, Ilhem, Ceballos-Picot, Irène, Gouider-Khouja, Neziha

Journal:

Brain and Development

Year:

2014

Language:

english

File:

PDF, 270 KB

english, 2014

39

2,8-dihydroxyadenine urolithiasis, an underdiagnosed disease

Ceballos-Picot, I., Perignon, J.L., Hamet, M., Daudon, M., Kamoun, P.

Journal:

Year:

1992

Language:

english

File:

PDF, 371 KB

english, 1992

40

Cristallisation massive des voies excrétrices urinaires en réanimation

Lionet, A., Garstka, A., Douillard, C., Ceballos-Picot, I., Marcelli, F., Frimat, M., Lemaître, L., Noël, C.

Journal:

Néphrologie & Thérapeutique

Year:

2013

Language:

french

File:

PDF, 67 KB

french, 2013

41

P183 – 2117 Dystonia with diurnal variability in Lesch-Nyhan variant syndrome

Buzatu, M, Coppens, S, Vilain, C, Ceballos-Picot, I, Van Bogaert, P

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 91 KB

english, 2013

42

Age-related changes in antioxidant enzymes and lipid peroxidation in brains of control and transgenic mice overexpressing copper-zinc superoxide dismutase

Nicole, Annie, Ceballos-Picot, Irène, Clément, Michel, Bourre, Jean-Marie, Sinet, Pierre-Marie

Journal:

Mutation Research/DNAging

Year:

1992

Language:

english

File:

PDF, 1.22 MB

english, 1992

43

Phenotypic variation among seven members of one family with deficiency of hypoxanthine–guanine phosphoribosyltransferase

Ceballos-Picot, Irène, Augé, Franck, Fu, Rong, Olivier-Bandini, Anne, Cahu, Julie, Chabrol, Brigitte, Aral, Bernard, de Martinville, Bérengère, Lecain, Jean-Paul, Jinnah, H.A.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 838 KB

english, 2013

44

Hippocampal mossy fiber changes in mice transgenic for the human copper-zinc superoxide dismutase gene

Barkats, M., Bertholet, J.-Y., Venault, P., Ceballos-Picot, I., Nicole, A., Phillips, J., Moutier, R., Roubertoux, P., Sinet, P.-M., Cohen-Salmon, C.

Journal:

Neuroscience Letters

Year:

1993

Language:

english

File:

PDF, 1.10 MB

english, 1993

45

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Fu, R., Ceballos-Picot, I., Torres, R. J., Larovere, L. E., Yamada, Y., Nguyen, K. V., Hegde, M., Visser, J. E., Schretlen, D. J., Nyhan, W. L., Puig, J. G., O'Neill, P. J., Jinnah, H. A.

Journal:

Year:

2014

Language:

english

File:

PDF, 818 KB

english, 2014

46

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis

Ceballos-Picot, I., Mockel, L., Potier, M.-C., Dauphinot, L., Shirley, T. L., Torero-Ibad, R., Fuchs, J., Jinnah, H.A.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 236 KB

english, 2009

47

Oxidative stress-inducible antioxidant adaptive response during prostaglandin F 2α -induced luteal cell death in vivo

Garrel, Catherine, Ceballos-Picot, Irene, Germain, Guy, Al-Gubory, KaÏs H

Journal:

Free Radical Research

Year:

2007

Language:

english

File:

PDF, 395 KB

english, 2007

48

Transcriptomic Approach to Lesch-Nyhan Disease

Dauphinot, Luce, Mockel, Lionel, Cahu, Julie, Jinnah, H. A., Ledroit, Morgan, Potier, Marie-Claude, Ceballos-Picot, Irène

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2014

Language:

english

File:

PDF, 233 KB

english, 2014

49

Recurrent 2,8-Dihydroxyadenine Nephropathy: A Rare but Preventable Cause of Renal Allograft Failure

Zaidan, M., Palsson, R., Merieau, E., Cornec-Le Gall, E., Garstka, A., Maggiore, U., Deteix, P., Battista, M., Gagné, E.-R., Ceballos-Picot, I., Duong Van Huyen, J.-P., Legendre, C., Daudon, M., Edvar

Journal:

American Journal of Transplantation

Year:

2014

Language:

english

File:

PDF, 992 KB

english, 2014

50

Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

Bollee, G., Dollinger, C., Boutaud, L., Guillemot, D., Bensman, A., Harambat, J., Deteix, P., Daudon, M., Knebelmann, B., Ceballos-Picot, I.

Journal:

Journal of the American Society of Nephrology

Year:

2010

Language:

english

File:

PDF, 360 KB

english, 2010

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