Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Elodie Lebredonchel"'
Autor:
Jérémy T Campillo, Valentin Dupasquier, Elodie Lebredonchel, Ludovic G Rancé, Marlhand C Hemilembolo, Sébastien D S Pion, Michel Boussinesq, François Missamou, Antonia Perez Martin, Cédric B Chesnais
Publikováno v:
PLoS Neglected Tropical Diseases, Vol 18, Iss 1, p e0011915 (2024)
BackgroundLoa loa filariasis (loiasis) is still considered a relatively benign disease. However, recent epidemiologic data suggest increased mortality and morbidity in L. loa infected individuals. We aimed to examine whether the density of L. loa mic
Externí odkaz:
https://doaj.org/article/cea6f46a53ac442896011e131b2094cf
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 22-29 (2021)
ABSTRACT For the first time the glycosylation of a patient with a MPI‐CDG during pregnancy is monitored. MPI‐CDG, is characterised by a deficiency in mannose‐6‐phosphate isomerase (MPI) leading to a reduced pool of glycosylation precursors, i
Externí odkaz:
https://doaj.org/article/ead49bbddb1644f689b4f75152da451e
Autor:
Anne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, Elodie Lebredonchel, Aurore Devos, Jamal Ghoumid, Karine Mention, Dries Dobbelaere, Marie Joncquel Chevalier-Curt, Monique Fontaine, Sabine Defoort, Vassily Smirnov, Claire Douillard, Claire-Marie Dhaenens
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100860- (2022)
Background: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of HADHA gene. Along with signs common to fatty acid oxidation defects (FAOD), specific retina and heart alterations
Externí odkaz:
https://doaj.org/article/53924885011f4b18a7dac70e488471e0
Autor:
Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6410 (2021)
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In th
Externí odkaz:
https://doaj.org/article/496eccf7a4964da38f5a8e4346404eef
Publikováno v:
Clinica Chimica Acta. 544:117333
Background: Congenital Disorders of Glycosylation (CDG) are a large group of inherited inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized is also the most common, PMM2-CDG, with an autosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f5dfb4aadb121307c2ff153eb9a4e84
https://doi.org/10.21203/rs.3.rs-1231444/v1
https://doi.org/10.21203/rs.3.rs-1231444/v1
Autor:
Jérémy T. Campillo, Marlhand C. Hemilembolo, Sébastien D. Pion, Elodie Lebredonchel, Valentin Dupasquier, Charlotte Boullé, Ludovic G. Rancé, Michel Boussinesq, François Missamou, Cédric B. Chesnais
Publikováno v:
SSRN Electronic Journal.
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 22-29 (2021)
JIMD reports
JIMD reports, 2021, JIMD Reports, 62 (1), pp.22-29. ⟨10.1002/jmd2.12247⟩
JIMD Reports
JIMD reports
JIMD reports, 2021, JIMD Reports, 62 (1), pp.22-29. ⟨10.1002/jmd2.12247⟩
JIMD Reports
International audience; For the first time the glycosylation of a patient with a MPI-CDG during pregnancy is monitored. MPI-CDG, is characterised by a deficiency in mannose-6-phosphate isomerase (MPI) leading to a reduced pool of glycosylation precur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa7c2a543caf1db8a59d18bb7c81896
http://hdl.handle.net/20.500.12210/79211
http://hdl.handle.net/20.500.12210/79211
Autor:
Kateryna Kondratska, Charles M. Rice, André Klein, Hans-Heinrich Hoffmann, Dorothée Vicogne, Marie-Ange Krzewinski, François Foulquier, Marine Houdou, Elodie Lebredonchel
Publikováno v:
Biochemical Journal
Biochemical Journal, 2019, 476 (21), pp.3281-3293. ⟨10.1042/BCJ20190488⟩
Biochemical Journal, Portland Press, 2019, 476 (21), pp.3281-3293. ⟨10.1042/BCJ20190488⟩
Biochemical Journal, 2019, 476 (21), pp.3281-3293. ⟨10.1042/BCJ20190488⟩
Biochemical Journal, Portland Press, 2019, 476 (21), pp.3281-3293. ⟨10.1042/BCJ20190488⟩
TMEM165 was highlighted in 2012 as the first member of the Uncharacterized Protein Family 0016 (UPF0016) related to human glycosylation diseases. Defects in TMEM165 are associated with strong Golgi glycosylation abnormalities. Our previous work has s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f361681ab077ff3189fa0229bef1cd80
http://hdl.handle.net/20.500.12210/34219
http://hdl.handle.net/20.500.12210/34219
Autor:
Eudoxie Dulary, Thorsten Marquardt, Willy Morelle, Marie-Ange Krzewinski-Recchi, Marine Houdou, Romain Péanne, Corentin Spriet, Dorothée Vicogne, André Klein, François Foulquier, Geoffroy de Bettignies, Vladimir Lupashin, Sven Potelle, Sandrine Duvet, Leslie K. Climer, Gert Matthijs, Pierre Morsomme, Elodie Lebredonchel
Publikováno v:
Biochemical Journal
Biochemical Journal, 2017, 474 (9), pp.1481-1493. ⟨10.1042/BCJ20160910⟩
Biochemical Journal, 2017, 474 (9), pp.1481-1493. ⟨10.1042/BCJ20160910⟩
International audience; TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the glycosylation process is altered. We recently demonstrated that the Golgi glycosylation defect due to