Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Bernadette Chadefaux-Vekemans"'
Autor:
Mehdi Oualha, Valérie Barbier, Bernadette Chadefaux-Vekemans, Aude Servais, Célina Roda, Guy Touati, Anaïs Brassier, Laurent Dupic, Marie-Thérèse Abi-Warde, Coraline Grisel, Clément Pontoizeau, Anna Kaminska, Vassili Valayannopoulos, Monika Eisermann, Carole Hennequin, Patricia Vignolo-Diard, Chris Ottolenghi, Pascale de Lonlay, Alice Kuster, Florence Habarou, Nathalie Boddaert, Fabrice Lesage, Jean-Baptiste Arnoux
Publikováno v:
Molecular Genetics and Metabolism. 130:110-117
Purpose We aimed to identify prognostic factors for survival and long-term intellectual and developmental outcome in neonatal patients with early-onset urea cycle disorders (UCD) experiencing hyperammonaemic coma. Methods We retrospectively analysed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cde5422863052cf235607b31fb5808e
https://doi.org/10.1016/j.ymgme.2020.03.003
https://doi.org/10.1016/j.ymgme.2020.03.003
Autor:
Soumeya Bekri, Catherine Nafeh-Bizet, Stéphanie Gobin, Abdellah Tebani, Sarah Grotto, Bénédicte Sudrié-Arnaud, Bernadette Chadefaux-Vekemans, Valérie Drouin-Garraud
Publikováno v:
Clinical Chemistry. 64:752-754
A 28-year-old woman presented with premature ovarian failure (POF).8 She was the eldest of 4 children and her siblings were all healthy. She underwent heart transplantation at 17 years of age following acute cardiac decompensation due to hypokinetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd83070a004a3431a1e57faff5215073
https://doi.org/10.1373/clinchem.2017.281246
https://doi.org/10.1373/clinchem.2017.281246
Autor:
David, Machover, Luigia, Rossi, Jocelyne, Hamelin, Christophe, Desterke, Emma, Goldschmidt, Bernadette, Chadefaux-Vekemans, Pascal, Bonnarme, Pierre, Briozzo, David, Kopečný, Francesca, Pierigè, Mauro, Magnani, Rosella, Mollicone, Farhad, Haghighi-Rad, Yann, Gaston-Mathé, Julien, Dairou, Claude, Boucheix, Raphaël, Saffroy
Publikováno v:
The Journal of pharmacology and experimental therapeutics. 369(3)
Methionine deprivation induces growth arrest and death of cancer cells. To eliminate l-methionine we produced, purified, and characterized the recombinant pyridoxal 5'-phosphate (PLP)-dependent l-methionine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4c0a8e2428c264f8f7539324f48c3ea2
https://pubmed.ncbi.nlm.nih.gov/30940696
https://pubmed.ncbi.nlm.nih.gov/30940696
Autor:
E. Goldschmidt, Raphaël Saffroy, Julien Dairou, David Kopečný, Pascal Bonnarme, Pierre Briozzo, Luigia Rossi, Bernadette Chadefaux-Vekemans, Mauro Magnani, Francesca Pierigè, Rosella Mollicone, Jocelyne Hamelin, Claude Boucheix, Yann Gaston-Mathé, Farhad Haghighi-Rad, David Machover, Christophe Desterke
Publikováno v:
Journal of Pharmacology and Experimental Therapeutics
Journal of Pharmacology and Experimental Therapeutics, American Society for Pharmacology and Experimental Therapeutics, 2019, 369 (3), pp.489-502. ⟨10.1124/jpet.119.256537⟩
Journal of Pharmacology and Experimental Therapeutics, American Society for Pharmacology and Experimental Therapeutics, 2019, 369 (3), pp.489-502. ⟨10.1124/jpet.119.256537⟩
International audience; Methionine deprivation induces growth arrest and death of cancer cells. To eliminate L-methionine we produced, purified, and characterized the recombinant pyridoxal 59-phosphate (PLP)-dependent L-methionine g-lyase (MGL) BL929
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45e81788dc0da9dd0c68e94688f57707
https://hal.inrae.fr/hal-02619075
https://hal.inrae.fr/hal-02619075
Autor:
Stylianos E. Antonarakis, Samuel Deutsch, Mara Dierssen, Arnaud Duchon, Yann Herault, Patricia Lopes Pereira, Agnès Gruart, Bernadette Chadefaux-Vekemans, Jean-Charles Bizot, Paola Prandini, José M. Delgado-García, Véronique Brault, Laetitia Magnol, F. Trovero, Ignasi Sahún
Publikováno v:
Human molecular genetics
Human Molecular Genetics, Vol. 18, No 24 (2009) pp. 4756-4769
Human Molecular Genetics
Human Molecular Genetics, Vol. 18, No 24 (2009) pp. 4756-4769
Human Molecular Genetics
Mental retardation in Down syndrome (DS), the most frequent trisomy in humans, varies from moderate to severe. Several studies both in human and based on mouse models identified some regions of human chromosome 21 (Hsa21) as linked to cognitive defic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74592316ddf3829cc6a8f637a96d0feb
http://doc.rero.ch/record/301241/files/ddp438.pdf
http://doc.rero.ch/record/301241/files/ddp438.pdf
Autor:
Audrey Boutron, Florence Habarou, Nathalie Boddaert, Tobias B. Haack, Johannes A. Mayr, Richard J. Rodenburg, G. Christoph Korenke, Chris Ottolenghi, Coraline Grisel, Holger Prokisch, Dominique Chretien, Christine Bole-Feysot, Stefan Kölker, Agnès Delahodde, Ivan Nemazanyy, Monika Eisermann, Thomas Meitinger, Nicolas Goudin, Agnès Rötig, Robert Barouki, Iris Marquardt, Marine Madrange, Patrick Nitschke, Pascale de Lonlay, Clément Pontoizeau, Yamina Hamel, Tim M. Strom, Elise Lebigot, Cécile Laroche, René G. Feichtinger, Bernadette Chadefaux-Vekemans, Kanetee Busiah
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (2), pp.283--290. ⟨10.1016/j.ajhg.2017.07.001⟩
Am. J. Hum. Genet. 101, 283-290 (2017)
American Journal of Human Genetics, 101, 283-290
American Journal of Human Genetics, 101, 2, pp. 283-290
American Journal of Human Genetics, 2017, 101 (2), pp.283--290. ⟨10.1016/j.ajhg.2017.07.001⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (2), pp.283--290. ⟨10.1016/j.ajhg.2017.07.001⟩
Am. J. Hum. Genet. 101, 283-290 (2017)
American Journal of Human Genetics, 101, 283-290
American Journal of Human Genetics, 101, 2, pp. 283-290
American Journal of Human Genetics, 2017, 101 (2), pp.283--290. ⟨10.1016/j.ajhg.2017.07.001⟩
Item does not contain fulltext Lipoate serves as a cofactor for the glycine cleavage system (GCS) and four 2-oxoacid dehydrogenases functioning in energy metabolism (alpha-oxoglutarate dehydrogenase [alpha-KGDHc] and pyruvate dehydrogenase [PDHc]), o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d6f66506f32ba9edc1b8f942c9c0f4
https://hal.archives-ouvertes.fr/hal-02281951
https://hal.archives-ouvertes.fr/hal-02281951
Autor:
Bernadette Chadefaux-Vekemans, Valérie Cormier-Daire, A.-E. Millischer-Bellaiche, P. de Lonlay, Nathalie Seta, Christine Vianey-Saban, Roseline Froissart, Nathalie Boddaert, Tania Attié-Bitach, Vassili Valayannopoulos, Chris Ottolenghi, Geneviève Baujat, Anaïs Brassier, Monique Piraud, Pascale Sonigo
Publikováno v:
Archives de Pédiatrie. 19:959-969
Inherited metabolic diseases are mostly due to enzyme deficiency in one of numerous metabolic pathways, leading to absence of a compound downstream from and the accumulation of a compound upstream from the deficient metabolite(s). Diseases of intoxic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbb31daa00b9ecbd19d394fa0654c496
https://doi.org/10.1016/j.arcped.2012.06.002
https://doi.org/10.1016/j.arcped.2012.06.002
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
Autor:
Sophie Monnot, Julie Steffann, Bernadette Chadefaux-Vekemans, Jean-Marie Rival, Arnold Munnich, Jean-Paul Bonnefont, Pascale de Lonlay, Valérie Serre, J. Aupetit, S. Romano
Publikováno v:
Human Mutation. 30:734-740
Pyruvate carboxylase (PC), a key enzyme for gluconeogenesis and anaplerotic pathways, consists of four domains, namely, biotin carboxylase (BC), carboxyltransferase (CT), pyruvate carboxylase tetramerization (PT), and biotin carboxyl carrier protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bab94c964feac7f388d3a9c5afa65c1
https://doi.org/10.1002/humu.20908
https://doi.org/10.1002/humu.20908
Autor:
Jean-Michel Goujon, Laure-Hélène Noël, Vincent Morinière, Aude Servais, Corinne Antignac, Bernadette Chadefaux-Vekemans, Jean-Pierre Grünfeld
Publikováno v:
Clinical Journal of the American Society of Nephrology. 3:27-35
Background and objectives: Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane. Three clinical forms have been described
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53ccd40d6706c4b6012fdff6d046e45
https://doi.org/10.2215/cjn.01740407
https://doi.org/10.2215/cjn.01740407
Publikováno v:
Clinical Biochemistry. 40:692-698
Background: Cystinosis is a rare autosomal recessive disorder characterized by an accumulation of intralysosomal cystine due to a defect in cystine transport across the lysosomal membrane. This disorder can be treated specifically using high doses of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45519ed276a3476671965fa49a89499a
https://doi.org/10.1016/j.clinbiochem.2007.02.005
https://doi.org/10.1016/j.clinbiochem.2007.02.005