Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Loïc Chentout"'
Autor:
Hortense de Calbiac, Sebastian Montealegre, Marjolène Straube, Solène Renault, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay
Publikováno v:
Autophagy Reports, Vol 3, Iss 1 (2024)
ABSTRACTPatients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis episodes precipitated by fasting. Autophagy functioning was analyzed in vitro, in primary skeletal myoblasts from TANGO2 patients, in basal a
Externí odkaz:
https://doaj.org/article/4aa5bc2b72924f759db819530d580f6e
Autor:
Nidia Moreno-Corona, Loïc Chentout, Lucie Poggi, Romane Thouenon, Cecile Masson, Melanie Parisot, Lou Le Mouel, Capucine Picard, Isabelle André, Marina Cavazzana, Laurence Perrin, Anne Durandy, Saba Azarnoush, Sven Kracker
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or splic
Externí odkaz:
https://doaj.org/article/7550814d44e942aba4bf0bf01ddc33f7
Autor:
Lucie Heurtier, Hicham Lamrini, Loïc Chentout, Marie-Céline Deau, Amine Bouafia, Jérémie Rosain, Jean-Marc Plaza, Mélanie Parisot, Benoit Dumont, Delphine Turpin, Etienne Merlin, Despina Moshous, Nathalie Aladjidi, Bénédicte Neven, Capucine Picard, Marina Cavazzana, Alain Fischer, Anne Durandy, Jean-Louis Stephan, Sven Kracker
Publikováno v:
Haematologica, Vol 102, Iss 7 (2017)
Externí odkaz:
https://doaj.org/article/a8939c0c71d048bf91d07da9e764faa6
Autor:
Sebastian Montealegre, Hortense de Calbiac, Marjolène Straube, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay
Patients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis (RM) episodes precipitated by fasting. Since starvation promotes autophagy induction, we wondered whether TANGO2-related muscle symptoms result from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b85aa610c7b910abc075743a26acc60
https://doi.org/10.1101/2023.03.29.534583
https://doi.org/10.1101/2023.03.29.534583
Autor:
Romane Thouenon, Loïc Chentout, Nidia Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Benedicte Hoareau, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André, Marina Cavazzana, Anne Durandy, Jean-Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker
Publikováno v:
Journal of Experimental Medicine. 220
Here, we report on a heterozygous interferon regulatory factor 4 (IRF4) missense variant identified in three patients from a multigeneration family with hypogammaglobulinemia. Patients’ low blood plasmablast/plasma cell and naïve CD4 and CD8 T cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e06f7594419e4e06efb0ae90fc7b19c9
https://doi.org/10.1084/jem.20221292
https://doi.org/10.1084/jem.20221292