Zobrazeno 1 - 10
of 159
pro vyhledávání: '"Jean François Benoist"'
Autor:
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour‐Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff
Publikováno v:
JIMD Reports, Vol 65, Iss 3, Pp 163-170 (2024)
Abstract Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine synthase reductase gene (MTRR). Patients usually exhibit early‐onset bone ma
Externí odkaz:
https://doaj.org/article/75976a26610940dd92291d9485f6970b
Autor:
Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through
Externí odkaz:
https://doaj.org/article/c41e870d385f45a7bab71242c1c3248d
Autor:
Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist, Manuel Schiff
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for more than 30 years
Externí odkaz:
https://doaj.org/article/3d1083b941db4e1ca40ed0a8d1a100c8
Autor:
Apolline Imbard, Leslie Schwendimann, Sophie Lebon, Pierre Gressens, Henk J. Blom, Jean-François Benoist
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract One-carbon metabolism (1C metabolism) is of paramount importance for cell metabolism and mammalian development. It is involved in the synthesis or modification of a wide variety of compounds such as proteins, lipids, purines, nucleic acids a
Externí odkaz:
https://doaj.org/article/cf2d042047ea4f70b83c35769e98e261
Autor:
Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaimé, Anaïs Brassier, François Brazier, Jean-François Benoist, Clément Pontoizeau, Chris Ottolenghi, Pauline Krug, Olivia Boyer, Pascale de Lonlay, Aude Servais
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Chronic kidney disease (CKD) is one of the main long-term prognosis factors in methylmalonic acidemia (MMA), a rare disease of propionate catabolism. Our objective was to precisely address the clinical and biological characteristi
Externí odkaz:
https://doaj.org/article/ac37a157b8d245b5abfc3a9d15a19433
Autor:
Mathieu Genuini, Philippe Bidet, Jean-François Benoist, Dimitri Schlemmer, Chloé Lemaitre, André Birgy, Stéphane Bonacorsi
Publikováno v:
BMC Microbiology, Vol 19, Iss 1, Pp 1-8 (2019)
Abstract Background The neonatal meningitis E. coli (NMEC) strain S88 carries a ColV plasmid named pS88 which is involved in meningeal virulence. Transcriptional analysis of pS88 in human serum revealed a strong upregulation of an ORF of unknown func
Externí odkaz:
https://doaj.org/article/cccc7fa8cd9f4d38a5b7bb703b794ae4
Autor:
Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Abstract Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases. The objective of this study was to evaluate the contribution o
Externí odkaz:
https://doaj.org/article/54afcfc27f9e45b38ef162f66472e7b3
Autor:
Camille Desprairies, Apolline Imbard, Bérengère Koehl, Mathie Lorrot, Jean Gaschignard, Julie Sommet, Samia Pichard, Laurent Holvoet, Albert Faye, Malika Benkerrou, Jean-François Benoist, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Nitrous oxide (N2O) is widely used as an anesthetic or an analgesic. N2O prolonged and recurrent administration is known to affect vitamin B12 metabolism with subsequent clinical consequences. We report herein the case of a 13-year-old girl with sick
Externí odkaz:
https://doaj.org/article/e6346a71e720453698e0e6b3b58211ac
Publikováno v:
PAMJ Clinical Medicine, Vol 1, Iss 55 (2019)
The xanthinuria is a rare hereditary autosomal recessive disease. It is related to xanthine oxidase deficiency also known as xanthine dehydrogenase, an enzyme involved in the metabolism of purine bases. In this work, we describe the first cases of he
Externí odkaz:
https://doaj.org/article/69fe52ce78f847f1a1bc9cdb3f536dcd
Autor:
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation
Externí odkaz:
https://doaj.org/article/cbd6be2fd8e245cb84a21aa02a029651