Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Hélène Ogier de Baulny"'
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:
Yvan Herenger, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit no
Externí odkaz:
https://doaj.org/article/3a075c12419b4a37b31397801c02bc73
Autor:
Carole Harbulot, Stéphanie Paquay, Imen Dorboz, Samia Pichard, Agnès Bourillon, Jean-François Benoist, Claude Jardel, Hélène Ogier de Baulny, Odile Boespflug-Tanguy, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 8-10 (2016)
Background: MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1. Objectives: To report transient neonatal renal findings in MEG
Externí odkaz:
https://doaj.org/article/02278964e99742c586acb479b9591cc4
Autor:
Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
Publikováno v:
eLife, Vol 5 (2016)
Previously, we identified QIL1 as a subunit of mitochondrial contact site (MICOS) complex and demonstrated a role for QIL1 in MICOS assembly, mitochondrial respiration, and cristae formation critical for mitochondrial architecture (Guarani et al., 20
Externí odkaz:
https://doaj.org/article/c2eb5d8eb5b14293a741ed6e1db3525a
Autor:
Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boespflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e21932 (2011)
BackgroundIn the investigation of autism spectrum disorders (ASD), a genetic cause is found in approximately 10-20%. Among these cases, the prevalence of the rare inherited metabolic disorders (IMD) is unknown and poorly evaluated. An IMD responsible
Externí odkaz:
https://doaj.org/article/1611c12f2bfa4000b6c5823b18e6e055
Autor:
Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boepsflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme
Publikováno v:
PLoS ONE, Vol 6, Iss 8 (2011)
Externí odkaz:
https://doaj.org/article/27d2ab66cdf242298edff1e8cea75228
Autor:
Delphine Peric, Christelle Durrant-Arico, Christophe Delenda, Thierry Dupré, Pascale De Lonlay, Hélène Ogier de Baulny, Cécile Pelatan, Brigitte Bader-Meunier, Olivier Danos, Isabelle Chantret, Stuart E H Moore
Publikováno v:
PLoS ONE, Vol 5, Iss 7, p e11675 (2010)
BACKGROUND: Biosynthesis of the dolichol linked oligosaccharide (DLO) required for protein N-glycosylation starts on the cytoplasmic face of the ER to give Man(5)GlcNAc(2)-PP-dolichol, which then flips into the ER for further glycosylation yielding m
Externí odkaz:
https://doaj.org/article/932b0c29f42343f68647bf3329de7e6d
Autor:
Manuel Schiff, Hélène Ogier de Baulny, Eliane Delouvrier, Jean-François Le Gargasson, Florence Rigaudière, Paolo Milani
Publikováno v:
Documenta Ophthalmologica. 142:371-380
LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency is a rare genetic disorder of mitochondrial long-chain fatty acid oxidation inherited as a recessive trait. Affected patients can present with hypoglycaemia, rhabdomyolysis and cardiomyopa
Autor:
Thierry Dupré, Julia Dancourt, Alain Couvineau, Elise Schaefer, Manuel Schiff, Nathalie Seta, Francesca Mattioli, Isabelle Chantret, Hélène Ogier de Baulny, Audrey Dupont, Pascale de Lonlay, Sandrine Vuillaumier-Barrot, Stuart E.H. Moore
Publikováno v:
Pediatric Research
Pediatric Research, 2019, 85 (3), pp.384-389. ⟨10.1038/s41390-018-0231-5⟩
Pediatric Research, 2019, 85 (3), pp.384-389. ⟨10.1038/s41390-018-0231-5⟩
BACKGROUND: Congenital disorders of glycosylation (CDG) includes ALG8 deficiency, a protein N-glycosylation defect with a broad clinical spectrum. If most of the 15 previously reported patients present an early-onset multisystem severe disease and ea
Autor:
Florence, Rigaudière, Eliane, Delouvrier, Jean-François, Le Gargasson, Paolo, Milani, Hélène, Ogier de Baulny, Manuel, Schiff
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology. 142(3)
LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency is a rare genetic disorder of mitochondrial long-chain fatty acid oxidation inherited as a recessive trait. Affected patients can present with hypoglycaemia, rhabdomyolysis and cardiomyopa