Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Arnaud Hubas"'
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:
Perrine Renard, Laure Caccavelli, Antoine Legendre, Caroline Tuchmann-Durand, David Balakirouchenane, Benoit Blanchet, Céline Narjoz, Marjolène Straube, Arnaud Hubas, Alexa Garros, Karine Mention, Nathalie Bednarek, Nicolas Goudin, Christine Broissand, Joel Schlatter, Salvatore Cisternino, Nicolas Cagnard, Peter van Endert, Julien Diana, Hortense de Calbiac, Pascale de Lonlay
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 163, Iss , Pp 114813- (2023)
Background: Lipin-1 deficiency is a life-threatening disease that causes severe rhabdomyolysis (RM) and chronic symptoms associated with oxidative stress. In the absence of treatment, Hydroxychloroquine sulfate (HCQ) was administered to patients off
Externí odkaz:
https://doaj.org/article/8c594fbdadea4b608bc7cda8871f7a16
Autor:
Jimmy Massenet, Cyril Gitiaux, Mélanie Magnan, Sylvain Cuvellier, Arnaud Hubas, Patrick Nusbaum, F Jeffrey Dilworth, Isabelle Desguerre, Bénédicte Chazaud
Publikováno v:
Cells, Vol 9, Iss 8, p 1780 (2020)
In Duchenne muscular dystrophy (DMD) patients, absence of dystrophin causes muscle wasting by impacting both the myofiber integrity and the properties of muscle stem cells (MuSCs). Investigation of DMD encompasses the use of MuSCs issued from human s
Externí odkaz:
https://doaj.org/article/c22215bef5174186a5326750ae97eb29
Autor:
Jimmy Massenet, Michèle Weiss-Gayet, Hina Bandukwala, Mélanie Magnan, Arnaud Hubas, Patrick Nusbaum, Isabelle Desguerre, Cyril Gitiaux, F Jeffrey Dilworth, Bénédicte Chazaud
In Duchenne Muscular Dystrophy (DMD), the absence of the subsarcolemmal dystrophin protein leads to repeated myofiber damages inducing cycles of muscle regeneration that is driven by muscle stem cells (MuSCs). With time, MuSC regenerative capacities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dda4d2f741d4dfd11476ea202ba1541
https://doi.org/10.1101/2023.04.26.538414
https://doi.org/10.1101/2023.04.26.538414
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
Autor:
Bénédicte Chazaud, Jimmy Massenet, F. Jeffrey Dilworth, Cyril Gitiaux, Mélanie Magnan, Isabelle Desguerre, Arnaud Hubas, Patrick Nusbaum, Sylvain Cuvellier
Publikováno v:
Cells, Vol 9, Iss 1780, p 1780 (2020)
Cells
Volume 9
Issue 8
Cells
Volume 9
Issue 8
In Duchenne muscular dystrophy (DMD) patients, absence of dystrophin causes muscle wasting by impacting both the myofiber integrity and the properties of muscle stem cells (MuSCs). Investigation of DMD encompasses the use of MuSCs issued from human s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47d300a53423636e8f9c4df5d243fac
https://www.mdpi.com/2073-4409/9/8/1780
https://www.mdpi.com/2073-4409/9/8/1780
Autor:
Cyril Gitiaux, Brigitte Bader Meunier, Pierre Quartier, Isabelle Melki, Mathieu P Rodero, Christine Bodemer, Yanick J. Crow, Vincent Bondet, Patrick Nusbaum, Nassima Bekaddour, Darragh Duffy, Jean-Philippe Herbeuval, Arnaud Hubas, Isabelle Desguerre
Publikováno v:
Rheumatology
Rheumatology, Oxford University Press (OUP), 2019, pp.kez508. ⟨10.1093/rheumatology/kez508⟩
Rheumatology, Oxford University Press (OUP), 2020, pp.kez508. ⟨10.1093/rheumatology/kez508⟩
Rheumatology, 2020, pp.kez508. ⟨10.1093/rheumatology/kez508⟩
Rheumatology, Oxford University Press (OUP), 2020, 59 (5), pp.1171-1174. ⟨10.1093/RHEUMATOLOGY/KEZ508⟩
Rheumatology, Oxford University Press (OUP), 2019, pp.kez508. ⟨10.1093/rheumatology/kez508⟩
Rheumatology, Oxford University Press (OUP), 2020, pp.kez508. ⟨10.1093/rheumatology/kez508⟩
Rheumatology, 2020, pp.kez508. ⟨10.1093/rheumatology/kez508⟩
Rheumatology, Oxford University Press (OUP), 2020, 59 (5), pp.1171-1174. ⟨10.1093/RHEUMATOLOGY/KEZ508⟩
International audience; Letter to the Editor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d661144f143ff3bc80672dec2d73ffe
https://hal-pasteur.archives-ouvertes.fr/pasteur-02376263
https://hal-pasteur.archives-ouvertes.fr/pasteur-02376263
Autor:
Michel Vidaud, Laurent Lantieri, Béatrice Parfait, Mikael Hivelin, Nicolas Chapuis, Arnaud Hubas, Patrick Nusbaum, Eric Pasmant, Pierre Wolkenstein, Jennifer Varin, Laury Poulain, Ingrid Laurendeau
Publikováno v:
Oncotarget
Oncotarget, Impact journals, 2016, 7 (24), pp.35753-35767. 〈10.18632/oncotarget.7099〉
Oncotarget, 2016, 7 (24), pp.35753-35767. ⟨10.18632/oncotarget.7099⟩
Oncotarget, Impact journals, 2016, 7 (24), pp.35753-35767. ⟨10.18632/oncotarget.7099⟩
Oncotarget, Impact journals, 2016, 7 (24), pp.35753-35767. 〈10.18632/oncotarget.7099〉
Oncotarget, 2016, 7 (24), pp.35753-35767. ⟨10.18632/oncotarget.7099⟩
Oncotarget, Impact journals, 2016, 7 (24), pp.35753-35767. ⟨10.18632/oncotarget.7099⟩
International audience; Approximately 30-50% of individuals with Neurofibromatosis type 1 develop benign peripheral nerve sheath tumors, called plexiform neurofibromas (PNFs). PNFs can undergo malignant transformation to highly metastatic malignant p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be42897066a85093555bd2247d5bd60
http://www.hal.inserm.fr/inserm-01399312
http://www.hal.inserm.fr/inserm-01399312