Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Hortense De Calbiac"'
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:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-3 (2023)
Externí odkaz:
https://doaj.org/article/b08aebba67f346b6a340f3cc87fac551
Autor:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP
Externí odkaz:
https://doaj.org/article/6c41a4f4e8fe4f95afcbf96cee484c70
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:
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
Publikováno v:
Autophagy. 18:254-282
Mechanisms of protein homeostasis are crucial for overseeing the clearance of misfolded and toxic proteins over the lifetime of an organism, thereby ensuring the health of neurons and other cells of the central nervous system. The highly conserved pa
Publikováno v:
Journal of Visualized Experiments.
Epilepsy represents one of the most common neurological disorders, affecting an estimated 50 million people worldwide. Recent advances in genetic research have uncovered a large spectrum of genes implicated in various forms of epilepsy, highlighting
Autor:
Jan H. Veldink, Edor Kabashi, Sylvie Dirrig-Grosch, Peter M Andersen, Najwa Ouali Alami, Luc Dupuis, Kirsten Sieverding, Axel Freischmidt, Natalia Mora, Albert C. Ludolph, Tobias M. Boeckers, Markus Margelisch, Philippe Couratier, Francesco Roselli, François Muratet, Andreas Sommacal, Chantal Sellier, Géraldine Lautrette, Erik Storkebaum, Markus Weber, Nick H.M. van Bakel, Stéphane Dieterlé, Stéphanie Millecamps, Kristel R. van Eijk, Jochen H. Weishaupt, Alberto Catanese, Kathrin Muller, Salim Megat, Xhuljana Mingaj, Christoph Neuwirth, Jason Sanogo, Hortense de Calbiac, Deniz Yilmazer-Hanke
The genetic basis of amyotrophic lateral sclerosis (ALS) is still incompletely understood. Using two independent genetic strategies, we show here that a large part of ALS heritability lies in genes expressed in inhibitory and excitatory neurons, espe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a41e6326cbbfff9095abfc6e283f98d4
https://doi.org/10.1101/2021.08.23.21262299
https://doi.org/10.1101/2021.08.23.21262299
Autor:
Hortense de Calbiac, Adriana Dabacan, Elise Marsan, Hervé Tostivint, Gabrielle Devienne, Saeko Ishida, Eric Leguern, Stéphanie Baulac, Raul C. Muresan, Edor Kabashi, Sorana Ciura
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2018, 5 (5), pp.510-523. ⟨10.1002/acn3.542⟩
Annals of Clinical and Translational Neurology, Wiley, 2018, 5 (5), pp.510-523. ⟨10.1002/acn3.542⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::58ea5c3366abdbdecc678969f04a6aab
https://hal-mnhn.archives-ouvertes.fr/mnhn-02860982
https://hal-mnhn.archives-ouvertes.fr/mnhn-02860982
Autor:
Hortense de Calbiac, Edor Kabashi, Serena Lattante, Isabelle Le Ber, Alexis Brice, Sorana Ciura
Mutations in SQSTM1, encoding for the protein SQSTM1/p62, have been recently reported in 1-3.5% of patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration (ALS/FTLD). Inclusions positive for SQSTM1/p62 have been detected in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033bfee3d6067e4fa95ec81ad788bd1f
http://hdl.handle.net/10807/65581
http://hdl.handle.net/10807/65581