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Items: 1 to 50 of 74

1.

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

Madeo A, Di Rocco M, Brassier A, Bahi-Buisson N, De Lonlay P, Ceballos-Picot I.

Mol Genet Metab. 2019 Jun 3. pii: S1096-7192(19)30131-3. doi: 10.1016/j.ymgme.2019.06.001. [Epub ahead of print]

PMID:
31182398
2.

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

Ozeir M, Huyet J, Burgevin MC, Pinson B, Chesney F, Remy JM, Siddiqi AR, Lupoli R, Pinon G, Saint-Marc C, Gibert JF, Morales R, Ceballos-Picot I, Barouki R, Daignan-Fornier B, Olivier-Bandini A, Augé F, Nioche P.

J Biol Chem. 2019 Jun 3. pii: jbc.RA119.009087. doi: 10.1074/jbc.RA119.009087. [Epub ahead of print]

3.

Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation.

Ceballos-Picot I, Saha A, Arora N, Kapoor K, Kaur M, Dhull RS, Goyal S.

Kidney Int Rep. 2018 Dec 18;4(4):624-628. doi: 10.1016/j.ekir.2018.12.004. eCollection 2019 Apr. No abstract available.

4.

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

Cochran B, Kovačíková T, Hodaňová K, Živná M, Hnízda A, Niehaus AG, Bonnecaze A, Balasubraminiam G, Ceballos-Picot I, Hawfield A, Kidd K, Kmoch S, Bleyer AJ.

Clin Nephrol. 2018 Oct;90(4):296-301. doi: 10.5414/CN109460. Review.

PMID:
30106368
5.

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

Saidak Z, Louandre C, Dahmani S, Sauzay C, Guedda S, Chauffert B, Chatelain D, Ceballos-Picot I, Galmiche A.

Biosci Rep. 2018 Sep 19;38(5). pii: BSR20171716. doi: 10.1042/BSR20171716. Print 2018 Oct 31.

6.

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

Huyet J, Ozeir M, Burgevin MC, Pinson B, Chesney F, Remy JM, Siddiqi AR, Lupoli R, Pinon G, Saint-Marc C, Gibert JF, Morales R, Ceballos-Picot I, Barouki R, Daignan-Fornier B, Olivier-Bandini A, Augé F, Nioche P.

Cell Chem Biol. 2018 Jun 21;25(6):666-676.e4. doi: 10.1016/j.chembiol.2018.02.011. Epub 2018 Mar 22.

PMID:
29576532
7.

A comprehensive characterization of the impact of mycophenolic acid on the metabolism of Jurkat T cells.

Fernández-Ramos AA, Marchetti-Laurent C, Poindessous V, Antonio S, Petitgas C, Ceballos-Picot I, Laurent-Puig P, Bortoli S, Loriot MA, Pallet N.

Sci Rep. 2017 Sep 5;7(1):10550. doi: 10.1038/s41598-017-10338-6.

8.

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

Chouchana L, Fernández-Ramos AA, Dumont F, Marchetti C, Ceballos-Picot I, Beaune P, Gurwitz D, Loriot MA.

Genome Med. 2015 Apr 18;7(1):37. doi: 10.1186/s13073-015-0150-6. eCollection 2015.

9.

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

Ceballos-Picot I, Le Dantec A, Brassier A, Jaïs JP, Ledroit M, Cahu J, Ea HK, Daignan-Fornier B, Pinson B.

Orphanet J Rare Dis. 2015 Jan 23;10:7. doi: 10.1186/s13023-014-0219-0.

10.

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 ER, Ceballos-Picot I, Duong Van Huyen JP, Legendre C, Daudon M, Edvardsson VO, Knebelmann B.

Am J Transplant. 2014 Nov;14(11):2623-32. doi: 10.1111/ajt.12926. Epub 2014 Oct 10.

11.

2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.

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

Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):241-52. doi: 10.1080/15257770.2013.853780. Review.

PMID:
24940675
12.

Transcriptomic approach to Lesch-Nyhan disease.

Dauphinot L, Mockel L, Cahu J, Jinnah HA, Ledroit M, Potier MC, Ceballos-Picot I.

Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):208-17. doi: 10.1080/15257770.2014.880477.

13.

New mutation affecting hypoxanthine phosphoribosyltransferase responsible for severe tophaceous gout.

Lahaye C, Augé F, Soubrier M, Ceballos-Picot I.

J Rheumatol. 2014 Jun;41(6):1252-4. doi: 10.3899/jrheum.131168. No abstract available.

PMID:
24882866
14.

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

Rebai I, Kraoua I, Benrhouma H, Rouissi A, Turki I, Ceballos-Picot I, Gouider-Khouja N.

Brain Dev. 2014 Nov;36(10):921-3. doi: 10.1016/j.braindev.2014.01.006. Epub 2014 Feb 3.

PMID:
24503445
15.

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

Ceballos-Picot I, Augé F, Fu R, Olivier-Bandini A, Cahu J, Chabrol B, Aral B, de Martinville B, Lecain JP, Jinnah HA.

Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8.

16.

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

Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA; Lesch-Nyhan Disease International Study Group.

Brain. 2014 May;137(Pt 5):1282-303. doi: 10.1093/brain/awt202. Epub 2013 Aug 22. Review.

17.

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

Martinelli D, Travaglini L, Drouin CA, 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 C.

Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18. Erratum in: Brain. 2013 Oct;136(Pt 10):e256.

PMID:
23423674
18.

Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.

Torres RJ, Puig JG, Ceballos-Picot I.

Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.304. Epub 2013 Jan 16. No abstract available.

19.

Adenine phosphoribosyltransferase deficiency.

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

Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. Epub 2012 Jun 14. Review.

20.

Adenine phosphoribosyltransferase deficiency in children.

Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A; APRT Study Group.

Pediatr Nephrol. 2012 Apr;27(4):571-9. doi: 10.1007/s00467-011-2037-0. Epub 2012 Jan 3.

PMID:
22212387
21.

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

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

Clin Genet. 2011 Aug;80(2):199-201. doi: 10.1111/j.1399-0004.2011.01626.x. No abstract available.

PMID:
21749366
22.

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Sampat R, Fu R, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kremer R, Schretlen DJ, Puig JG, Jinnah HA.

Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9. Epub 2010 Oct 28.

23.

Clinical utility gene card for: Lesch-Nyhan syndrome.

Torres RJ, Puig JG, Ceballos-Picot I.

Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.109. Epub 2010 Jul 21. No abstract available.

24.

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

Flamand-Rouvière C, Guettard E, Moreau C, Bahi-Buisson N, Valayannopoulos V, Grabli D, Motte J, Rodriguez D, Roubertie A, Maintigneux L, Kemlin I, Ceballos-Picot I, Adams D, Vidailhet M, Roze E.

Mov Disord. 2010 Aug 15;25(11):1605-11. doi: 10.1002/mds.23134.

PMID:
20629163
25.

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

Stratta P, Fogazzi GB, Canavese C, Airoldi A, Fenoglio R, Bozzola C, Ceballos-Picot I, Bollée G, Daudon M.

Am J Kidney Dis. 2010 Sep;56(3):585-90. doi: 10.1053/j.ajkd.2009.12.028. Epub 2010 Mar 19.

PMID:
20303634
26.

Attenuated variants of Lesch-Nyhan disease.

Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group.

Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22. Review.

27.

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

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

J Am Soc Nephrol. 2010 Apr;21(4):679-88. doi: 10.1681/ASN.2009080808. Epub 2010 Feb 11.

28.

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

Ea HK, Bardin T, Jinnah HA, Aral B, Lioté F, Ceballos-Picot I.

Arthritis Rheum. 2009 Jul;60(7):2201-4. doi: 10.1002/art.24617.

29.

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

Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA.

Hum Mol Genet. 2009 Jul 1;18(13):2317-27. doi: 10.1093/hmg/ddp164. Epub 2009 Apr 2.

30.

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N.

Eur J Hum Genet. 2009 Jan;17(1):133-6. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1.

31.

Consequences of impaired purine recycling in dopaminergic neurons.

Lewers JC, Ceballos-Picot I, Shirley TL, Mockel L, Egami K, Jinnah HA.

Neuroscience. 2008 Mar 27;152(3):761-72. doi: 10.1016/j.neuroscience.2007.10.065. Epub 2008 Jan 17.

32.

A human neuronal tissue culture model for Lesch-Nyhan disease.

Shirley TL, Lewers JC, Egami K, Majumdar A, Kelly M, Ceballos-Picot I, Seidman MM, Jinnah HA.

J Neurochem. 2007 May;101(3):841-53.

33.

Oxidative stress-inducible antioxidant adaptive response during prostaglandin F2alpha-induced luteal cell death in vivo.

Garrel C, Ceballos-Picot I, Germain G, Al-Gubory KH.

Free Radic Res. 2007 Mar;41(3):251-9.

PMID:
17364952
34.

[Treatment of Lesch-Nyhan disease in France: survey of 16 patients].

Rouleau E, Ceballos-Picot I, Pérignon JL.

Arch Pediatr. 2006 Sep;13(9):1266-7. Epub 2006 Jul 7. French. No abstract available.

PMID:
16828545
35.

Delineation of the motor disorder of Lesch-Nyhan disease.

Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG; Lesch-Nyhan Disease International Study Group.

Brain. 2006 May;129(Pt 5):1201-17. Epub 2006 Mar 20. Review.

36.

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

Al-Gubory KH, Camous S, Germain G, Bolifraud P, Nicole A, Ceballos-Picot I.

J Endocrinol. 2006 Mar;188(3):559-68.

PMID:
16522735
37.

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.

Al-Gubory KH, Ceballos-Picot I, Nicole A, Bolifraud P, Germain G, Michaud M, Mayeur C, Blachier F.

Biochim Biophys Acta. 2005 Oct 10;1725(3):348-57.

PMID:
16055271
38.

Antioxidant enzymatic defence systems in sheep corpus luteum throughout pregnancy.

Al-Gubory KH, Bolifraud P, Germain G, Nicole A, Ceballos-Picot I.

Reproduction. 2004 Dec;128(6):767-74. Erratum in: Reproduction. 2005 Jan;129(1):127. Ceballos-Bicot, Irène [corrected to Ceballos-Picot, Irène].

PMID:
15579594
39.

Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).

Dussol B, Ceballos-Picot I, Aral B, Castera V, Philip N, Berland Y.

J Inherit Metab Dis. 2004;27(4):543-5.

PMID:
15334740
40.
41.

Expression and activity of cyclin-dependent kinases and glycogen synthase kinase-3 during NT2 neuronal differentiation.

Gompel M, Soulié C, Ceballos-Picot I, Meijer L.

Neurosignals. 2004 May-Jun;13(3):134-43.

42.

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

Edery P, Chabrier S, Ceballos-Picot I, Marie S, Vincent MF, Tardieu M.

Am J Med Genet A. 2003 Jul 15;120A(2):185-90.

PMID:
12833398
43.

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

Mettey Y, Gompel M, Thomas V, Garnier M, Leost M, Ceballos-Picot I, Noble M, Endicott J, Vierfond JM, Meijer L.

J Med Chem. 2003 Jan 16;46(2):222-36.

PMID:
12519061
44.

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

Soulié C, Nicole A, Christen Y, Ceballos-Picot I.

Cell Mol Biol (Noisy-le-grand). 2002 Sep;48(6):641-6.

PMID:
12396074
45.

Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

Holder-Espinasse M, Marie S, Bourrouillou G, Ceballos-Picot I, Nassogne MC, Faivre L, Amiel J, Munnich A, Vincent MF, Cormier-Daire V.

J Med Genet. 2002 Jun;39(6):440-2. No abstract available.

46.

Human cultured skin fibroblasts survive profound inherited ubiquinone depletion.

Geromel V, Kadhom N, Ceballos-Picot I, Chrétien D, Munnich A, Rötig A, Rustin P.

Free Radic Res. 2001 Jul;35(1):11-21.

PMID:
11697113
47.

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

Santiard-Baron D, Lacoste A, Ellouk-Achard S, Soulié C, Nicole A, Sarasin A, Ceballos-Picot I.

Mutat Res. 2001 Aug 8;479(1-2):113-20.

PMID:
11470486
48.

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

Millecamps S, Nicolle D, Ceballos-Picot I, Mallet J, Barkats M.

Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7582-7. Epub 2001 Jun 12.

49.

Identification of beta-amyloid-responsive genes by RNA differential display: early induction of a DNA damage-inducible gene, gadd45.

Santiard-Baron D, Gosset P, Nicole A, Sinet PM, Christen Y, Ceballos-Picot I.

Exp Neurol. 1999 Jul;158(1):206-13.

PMID:
10448433
50.

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

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

Neuroscience. 1999;92(4):1455-63.

PMID:
10426499

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