Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hugo Debruge"'
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:
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:
Claire-Marine Bérat, Athanasia Stoupa, Henri Bruel, Lena Damaj, Marine Madrange, Perrine Renard, Celia Hoebeke, Magalie Barth, Alice Maltret, Arnaud Wiedemann, Nathalie Boddaert, Chris Ottolenghi, Sebastian Montealegre, Arnaud Hubas, Laure Caccavelli, Peter van Endert, Amélie Blondel, Alexandra Afenjar, Marie-Thérèse Abi-Wardé, Aline Cano, Stéphanie Gobin, Jean-François Benoist, François Feillet, Malou Le Corronc Nuzum, Stéphanie Torre, Patrick Nusbaum, Clément Pontoizeau, Brigitte Chabrol, Hugo Debruge, Michel Polak, Pascale de Lonlay
Publikováno v:
Journal of Inherited Metabolic Disease. 44:415-425
TANGO2 disease is a severe inherited disorder associating multiple symptoms such as metabolic crises, encephalopathy, cardiac arrhythmias, and hypothyroidism. The mechanism of action of TANGO2 is currently unknown. Here, we describe a cohort of 20 Fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5933aad9a6e49d0275c79c323de06dbb
https://doi.org/10.1002/jimd.12314
https://doi.org/10.1002/jimd.12314
Autor:
Sebastian Montealegre, Elise Lebigot, Hugo Debruge, Norma Romero, Bénédicte Héron, Pauline Gaignard, Antoine Legendre, Apolline Imbard, Stéphanie Gobin, Emmanuelle Lacène, Patrick Nusbaum, Arnaud Hubas, Isabelle Desguerre, Aude Servais, Pascal Laforêt, Peter van Endert, François Jérome Authier, Cyril Gitiaux, Pascale de Lonlay
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Neurology Genetics, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
article-version (Version of Record) 3
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Neurology Genetics, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Background and ObjectivesTo determine common clinical and biological traits in 2 individuals with variants in ISCU and FDX2, displaying severe and recurrent rhabdomyolyses and lactic acidosis.MethodsWe performed a clinical characterization of 2 disti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb7193ea7e34da727027108b89bbc8c
https://pubmed.ncbi.nlm.nih.gov/35079622
https://pubmed.ncbi.nlm.nih.gov/35079622