I. Ceballos-Picot

发表

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

P. Jungers, B. Descamps-Latscha, J. Zingraff, 1996, Free radical biology & medicine.

Aloisines, a new family of CDK/GSK-3 inhibitors. SAR study, crystal structure in complex with CDK2, enzyme selectivity, and cellular effects.

Jane Endicott, Laurent Meijer, Virginie Thomas, 2003, Journal of medicinal chemistry.

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

E. Bertini, A. Montpetit, R. Carrozzo, 2013, Brain : a journal of neurology.

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

I. Ceballos-Picot, M. Merad-Boudia, A. Nicole, 1998, Biochemical pharmacology.

P. Sinet, I. Ceballos-Picot, J. Bourre, 1992, Mutation research.

The amyloid peptide induces early genotoxic damage in human preneuron NT2.

A. Sarasin, I. Ceballos-Picot, A. Nicole, 2001, Mutation research.

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

P. Marin, J. Martinou, I. Ceballos-Picot, 1999, Neuroscience.

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

Y. Christen, P. Sinet, P. Gosset, 1999, Experimental Neurology.

[Transgenic mice overexpressing copper-zinc superoxide dismutase: a model for the study of radical mechanisms and aging].

I. Ceballos-Picot, 1993, Comptes rendus des seances de la Societe de biologie et de ses filiales.

Attenuated variants of Lesch-Nyhan disease

Chung-Jen Chen, Stephen G. Reich, Shun-Jen Chang, 2010, Brain : a journal of neurology.

The Case | A man with acute bilateral urolithiasis.

F. Provôt, I. Ceballos-Picot, A. Lionet, 2021, Kidney international.

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

P. de Lonlay, A. Brassier, N. Bahi-Buisson, 2019, Molecular genetics and metabolism.

New Mutation Affecting Hypoxanthine Phosphoribosyltransferase Responsible for Severe Tophaceous Gout

I. Ceballos-Picot, F. Augé, M. Soubrier, 2014, The Journal of Rheumatology.

Clinical utility gene card for: Lesch–Nyhan Syndrome - update 2013

I. Ceballos-Picot, R. Torres, J. Puig, 2013, European Journal of Human Genetics.

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

H. Jinnah, B. Aral, B. Chabrol, 2013, Molecular genetics and metabolism.

Clinical utility gene card for: Lesch–Nyhan syndrome

I. Ceballos-Picot, R. Torres, J. Puig, 2011, European Journal of Human Genetics.

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

D. Schretlen, H. Jinnah, M. Fischbach, 2010, Human Genetics.

Consequences of impaired purine recycling in dopaminergic neurons

H. Jinnah, I. Ceballos-Picot, K. Egami, 2008, Neuroscience.

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

H. Jinnah, B. Aral, I. Ceballos-Picot, 2009, Arthritis and rheumatism.

Recruitment of Several Neuroprotective Pathways after Permanent Focal Ischemia in Mice

B. Sola, C. Guégan, I. Ceballos-Picot, 1998, Experimental Neurology.

Adenine phosphoribosyltransferase deficiency in children

M. Daudon, A. Bensman, I. Ceballos-Picot, 2012, Pediatric Nephrology.

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

E. Hirsch, Y. Agid, P. Damier, 1993, Neuroscience.

Direct evidence for glutathione as mediator of apoptosis in neuronal cells.

I. Ceballos-Picot, A. Nicole, D. Santiard-Baron, 1998, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Oxidative Stress, Cerebral Aging and Longevity

I. Ceballos-Picot, I. Ceballos‐Picot, 1997 .

Selective modulation of brain antioxidant defense capacity by genetic or metabolic manipulations

P. Briand, B. Aral, P. Sinet, 1994 .

Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

V. Meininger, G. Rouleau, A. Pramatarova, 1995, American journal of human genetics.

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

A. Delacourte, G. Grimber, P. Briand, 1991, Brain Research.

Role of Free Radicals in Alzheimer’s Disease and Down’s Syndrome

P. Sinet, I. Ceballos-Picot, I. Ceballos‐Picot, 1992 .

Oxidative Stress in Amyotrophic Lateral Sclerosis

I. Ceballos-Picot, I. Ceballos‐Picot, 1997 .

The Role of Oxidative Stress in Neuronal Death

I. Ceballos-Picot, 1997, Neuroscience Intelligence Unit.

Quantification of Mn-SOD mRNAs by using a competitive reverse-transcription polymerase chain reaction.

B. Aral, P. Sinet, I. Ceballos-Picot, 1995, Redox report : communications in free radical research.

Antioxidant enzymatic defence systems in sheep corpus luteum throughout pregnancy.

K. H. Al-Gubory, G. Germain, I. Ceballos-Picot, 2004, Reproduction.

The Ginkgo biloba extract EGb 761 increases viability of hnt human neurons in culture and affectsthe expression of genes implicated in the stress response.

Y. Christen, I. Ceballos-Picot, A. Nicole, 2002, Cellular and molecular biology.

Synaptic sprouting increases the uptake capacities of motoneurons in amyotrophic lateral sclerosis mice

S. Millecamps, I. Ceballos-Picot, D. Nicolle, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Attenuated variants of Lesch–Nyhan disease Lesch–Nyhan

D. Schretlen, S. Reich, H. Jinnah, 2010 .

Oxidative stress-inducible antioxidant adaptive response during prostaglandin F2α-induced luteal cell death in vivo

K. H. Al-Gubory, G. Germain, I. Ceballos-Picot, 2007, Free radical research.

Reconsideration of the proposed luteotropic and luteoprotective actions of ovine placental lactogen in sheep: in vivo and in vitro studies.

K. H. Al-Gubory, G. Germain, S. Camous, 2006, The Journal of endocrinology.

Adenine phosphoribosyltransferase deficiency.

M. Daudon, B. Knebelmann, A. Bensman, 2012, Clinical journal of the American Society of Nephrology : CJASN.

P. Sinet, I. Ceballos-Picot, M. Thévenin, 1992, Clinical chemistry.

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.

K. H. Al-Gubory, G. Germain, F. Blachier, 2005, Biochimica et biophysica acta.

Oxidative Stress in Neuronal Death and Apoptosis

I. Ceballos-Picot, I. Ceballos‐Picot, 1997 .

Peripheral antioxidant enzyme activities and selenium in elderly subjects and in dementia of Alzheimer's type--place of the extracellular glutathione peroxidase.

C. Berr, I. Ceballos-Picot, M. Merad-Boudia, 1996, Free radical biology & medicine.

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

U. Maggiore, M. Daudon, B. Knebelmann, 2014, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

M. Daudon, B. Knebelmann, A. Bensman, 2010, Journal of the American Society of Nephrology : JASN.

Oxidative Stress in Down’s Syndrome

I. Ceballos-Picot, I. Ceballos‐Picot, 1997 .

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

Madhuri Hegde, H A Jinnah, M. Hegde, 2014, Brain : a journal of neurology.

Delineation of the motor disorder of Lesch-Nyhan disease.

B. Bloem, D. Schretlen, S. Reich, 2006, Brain : a journal of neurology.

Oxidative Stress in Alzheimer’s Disease

I. Ceballos-Picot, I. Ceballos‐Picot, 1997 .

Decreased kidney function and crystal deposition in the tubules after kidney transplant.

M. Daudon, P. Stratta, I. Ceballos-Picot, 2010, American journal of kidney diseases : the official journal of the National Kidney Foundation.

KIDNEY BIOPSY TEACHING CASES Decreased Kidney Function and Crystal Deposition in the Tubules After Kidney Transplant

M. Daudon, P. Stratta, I. Ceballos-Picot, 2010 .

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

L. Meijer, I. Ceballos-Picot, M. Gompel, 2004, Neurosignals.

Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report .

K. Hodaňová, S. Kmoch, I. Ceballos-Picot, 2018, Clinical nephrology.

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

A. Munnich, H. Prokisch, N. Boddaert, 2020, European journal of medical genetics.

A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates

B. Chauffert, A. Galmiche, I. Ceballos-Picot, 2018, Bioscience reports.

Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

A. Munnich, L. Faivre, V. Cormier-Daire, 2002, Journal of medical genetics.

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

M. Tardieu, M. Vincent, I. Ceballos-Picot, 2003, American journal of medical genetics. Part A.

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

I. Desguerre, M. Vincent, N. Bahi-Buisson, 2009, European Journal of Human Genetics.

Human cultured skin fibroblasts survive profound inherited ubiquinone depletion

A. Munnich, P. Rustin, A. Rötig, 2001, Free radical research.

Biology of Oxidative Stress

I. Ceballos-Picot, I. Ceballos‐Picot, 1997 .

Molecular insight into thiopurine resistance: transcriptomic signature in lymphoblastoid cell lines

M. Loriot, P. Beaune, D. Gurwitz, 2015, Genome Medicine.

Structural Insights into the Forward and Reverse Enzymatic Reactions in Human Adenine Phosphoribosyltransferase.

B. Daignan-Fornier, R. Barouki, I. Ceballos-Picot, 2018, Cell chemical biology.

4-Hydroxynonenal content lower in brains of 25 month old transgenic mice carrying the human CuZn superoxide dismutase gene than in brains of their non-transgenic littermates.

I. Ceballos-Picot, M. Guérin, J. Torreilles, 1993, Journal of lipid mediators.

Selenium and Oxygen‐Metabolizing Enzymes in Elderly Community Residents: A Pilot Epidemiological Study

J. Dartigues, A. Alpérovitch, C. Berr, 1993, Journal of the American Geriatrics Society.

Oxidative Stress in Parkinson’s Disease

I. Ceballos-Picot, I. Ceballos-Picot, I. Ceballos‐Picot, 1997 .

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

Annie Nicole, J. Martinou, E. Boitier, 1999, Experimental Neurology.

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

B. Sola, C. Guégan, I. Ceballos-Picot, 1998, Brain research. Molecular brain research.

Reduction of Ischemic Damage in NGF-Transgenic Mice: Correlation with Enhancement of Antioxidant Enzyme Activities

B. Sola, C. Guégan, I. Ceballos-Picot, 1999, Neurobiology of Disease.

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

A. Delacourte, I. Ceballos-Picot, A. Nicole, 2004, Neuroscience Letters.

Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders

M. Vidailhet, D. Grabli, C. Moreau, 2010, Movement disorders : official journal of the Movement Disorder Society.

A human neuronal tissue culture model for Lesch‐Nyhan disease

H. Jinnah, I. Ceballos-Picot, K. Egami, 2007, Journal of neurochemistry.

Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction

B. Daignan-Fornier, R. Barouki, I. Ceballos-Picot, 2019, The Journal of Biological Chemistry.

Induced pluripotent stem cells from subjects with Lesch-Nyhan disease

Yan V. Sun, H. Jinnah, J. E. Visser, 2021, Scientific Reports.

Cellular clones and transgenic mice overexpressing copper-zinc superoxide dismutase: models for the study of free radical metabolism and aging.

P. Sinet, I. Ceballos-Picot, A. Nicole, 1992, EXS.

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

M. Hegde, D. Schretlen, H. Jinnah, 2014, Brain : a journal of neurology.

Metabolic and Neurobehavioral Disturbances Induced by Purine 1 Recycling Deficiency in Drosophila 2 3

S. Birman, B. Chérif-Zahar, L. Seugnet, 2023 .

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

B. Daignan-Fornier, A. Brassier, I. Ceballos-Picot, 2015, Orphanet Journal of Rare Diseases.

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

P. Kamoun, G. de Saint Basile, B. Aral, 1996, Human mutation.

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

M. Daudon, B. Knebelmann, A. Bensman, 2010, Journal of the American Society of Nephrology : JASN.