Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Lénaïg Abily-Donval"'
Autor:
Sarah Snanoudj, Céline Derambure, Cheng Zhang, Nguyen Thi Hai Yen, Céline Lesueur, Sophie Coutant, Lénaïg Abily-Donval, Stéphane Marret, Hong Yang, Adil Mardinoglu, Soumeya Bekri, Abdellah Tebani
Publikováno v:
Heliyon, Vol 10, Iss 14, Pp e34357- (2024)
Fabry disease (FD) is an X-linked lysosomal disease caused by an enzyme deficiency of alpha-galactosidase A (α-gal A). This deficiency leads to the accumulation of glycosphingolipids in lysosomes, resulting in a range of clinical symptoms. The compl
Externí odkaz:
https://doaj.org/article/98f4d6744b8c48ab8fb74841335491bb
Autor:
Clément Chollat, Maryline Lecointre, Matthieu Leuillier, Isabelle Remy-Jouet, Jean-Claude Do Rego, Lénaïg Abily-Donval, Yasmina Ramdani, Vincent Richard, Patricia Compagnon, Bertrand Dureuil, Stéphane Marret, Bruno José Gonzalez, Sylvie Jégou, Fabien Tourrel
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Background: Remifentanil, a synthetic opioid used for analgesia during cesarean sections, has been shown in ex vivo experiments to exert anti-apoptotic activity on immature mice brains. The present study aimed to characterize the impact of remifentan
Externí odkaz:
https://doaj.org/article/7a8735b6b315489a89179c348dd0739a
Autor:
Lénaïg Abily-Donval, Gaëlle Pinto-Cardoso, Alexandra Chadie, Anne-Marie Guerrot, Stéphanie Torre, Stéphane Rondeau, Stéphane Marret, Perinatal Network of Haute-Normandie
Publikováno v:
PLoS ONE, Vol 10, Iss 2, p e0114567 (2015)
OBJECTIVE:To investigate alteration in 2-year neurological/behavioral outcomes of very preterm infants born in a French level three neonatal intensive care unit. METHODS:We conducted a prospective, comparative study of very preterm infants born befor
Externí odkaz:
https://doaj.org/article/0a4163af41c2440ebc14a2b89ae29f3a
Autor:
Abdellah Tebani, Lenaig Abily-Donval, Isabelle Schmitz-Afonso, Bénédicte Héron, Monique Piraud, Jérôme Ausseil, Farid Zerimech, Bruno Gonzalez, Stéphane Marret, Carlos Afonso, Soumeya Bekri
Publikováno v:
Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-14 (2018)
Abstract Background Metabolomics represent a valuable tool to recover biological information using body fluids and may help to characterize pathophysiological mechanisms of the studied disease. This approach has not been widely used to explore inheri
Externí odkaz:
https://doaj.org/article/2a82a7d9a17a4d6fa0fa6281709f1a3a
Autor:
Sarah Snanoudj, Stéphanie Torre, Bénédicte Sudrié-Arnaud, Lenaig Abily-Donval, Alice Goldenberg, Gajja S. Salomons, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 23, p 12633 (2021)
Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency. This enzyme is encoded by the MLYCD (Malonyl-CoA Decarboxylase) gene, and the disease has an autosomal recessive inheritance. Malonic acidur
Externí odkaz:
https://doaj.org/article/390aec9d99454087bfe3bfbf40d3de21
Autor:
Bénédicte Sudrié-Arnaud, Sarah Snanoudj, Ivana Dabaj, Hélène Dranguet, Lenaig Abily-Donval, Axel Lebas, Myriam Vezain, Bénédicte Héron, Isabelle Marie, Marc Duval-Arnould, Stéphane Marret, Abdellah Tebani, Soumeya Bekri
Publikováno v:
Diagnostics, Vol 11, Iss 2, p 294 (2021)
Diagnosis of lysosomal disorders (LDs) may be hampered by their clinical heterogeneity, phenotypic overlap, and variable age at onset. Conventional biological diagnostic procedures are based on a series of sequential investigations and require multip
Externí odkaz:
https://doaj.org/article/4764e4163ff54fe0adc720d1a3774f8f
Autor:
Abdellah Tebani, Lenaig Abily-Donval, Isabelle Schmitz-Afonso, Monique Piraud, Jérôme Ausseil, Farid Zerimech, Carine Pilon, Tony Pereira, Stéphane Marret, Carlos Afonso, Soumeya Bekri
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 2, p 446 (2019)
Metabolic phenotyping is poised as a powerful and promising tool for biomarker discovery in inherited metabolic diseases. However, few studies applied this approach to mcopolysaccharidoses (MPS). Thus, this innovative functional approach may unveil c
Externí odkaz:
https://doaj.org/article/e72f4059f4304ec4b7a3912b9d62686e
Autor:
Lenaig Abily-Donval, Stéphanie Torre, Aurélie Samson, Bénédicte Sudrié-Arnaud, Cécile Acquaviva, Anne-Marie Guerrot, Jean-François Benoist, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 11, p 2294 (2017)
Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-CoA to succinyl-CoA pathway. Only seven cases of MCE deficiency have been described. In two cases, MCE deficiency was combined with s
Externí odkaz:
https://doaj.org/article/d06bf61c526042539fbe3da3ce4a4646
Publikováno v:
International Journal of Molecular Sciences, Vol 17, Iss 7, p 1167 (2016)
Inborn errors of metabolism (IEM) represent a group of about 500 rare genetic diseases with an overall estimated incidence of 1/2500. The diversity of metabolic pathways involved explains the difficulties in establishing their diagnosis. However, ear
Externí odkaz:
https://doaj.org/article/e4e29b2601804c649885c74689407fa0
Autor:
Abdellah Tebani, Lahouaria Zanoutene-Cheriet, Zoubir Adjtoutah, Lenaig Abily-Donval, Carole Brasse-Lagnel, Annie Laquerrière, Stephane Marret, Abla Chalabi Benabdellah, Soumeya Bekri
Publikováno v:
International Journal of Molecular Sciences, Vol 17, Iss 5, p 743 (2016)
Mucopolysaccharidoses (MPS’s) represent a subgroup of lysosomal storage diseases related to a deficiency of enzymes that catalyze glycosaminoglycans degradation. Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by
Externí odkaz:
https://doaj.org/article/86aa86f74cf846ffbfc733b8bb18cd5e