Consequences of Lmna Exon 4 Mutations in Myoblast Function

Autor: Déborah Gómez-Domínguez, Carolina Epifano, Fernando de Miguel, Albert García Castaño, Borja Vilaplana-Martí, Alberto Martín, Sandra Amarilla-Quintana, Anne T Bertrand, Gisèle Bonne, Javier Ramón-Azcón, Miguel A Rodríguez-Milla, Ignacio Pérez de Castro

Publikováno v: Cells, Vol 9, Iss 5, p 1286 (2020)

Laminopathies are causally associated with mutations on the Lamin A/C gene (LMNA). To date, more than 400 mutations in LMNA have been reported in patients. These mutations are widely distributed throughout the entire gene and are associated with a wi

Externí odkaz: https://doaj.org/article/379d7eb624e4498ca25aa0190b1f103c

Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo.

Autor: Émilie Boudreau, Sarah Labib, Anne T Bertrand, Valérie Decostre, Pierrette M Bolongo, Nicolas Sylvius, Gisèle Bonne, Frédérique Tesson

Publikováno v: PLoS ONE, Vol 7, Iss 9, p e45918 (2012)

A-type lamins A and C are nuclear intermediate filament proteins in which mutations have been implicated in multiple disease phenotypes commonly known as laminopathies. A few studies have implicated sumoylation in the regulation of A-type lamins. Sum

Externí odkaz: https://doaj.org/article/065ff59cf9bf4d12bf4d1f3357baf172

Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts

Autor: Louise Benarroch, Julia Madsen-Østerbye, Mohamed Abdelhalim, Kamel Mamchaoui, Jessica Ohana, Anne Bigot, Vincent Mouly, Gisèle Bonne, Anne T. Bertrand, Philippe Collas

Publikováno v: Cells, Vol 12, Iss 15, p 1995 (2023)

The ability to recapitulate muscle differentiation in vitro enables the exploration of mechanisms underlying myogenesis and muscle diseases. However, obtaining myoblasts from patients with neuromuscular diseases or from healthy subjects poses ethical

Externí odkaz: https://doaj.org/article/5088b0821d50418d979766edd6b9b039

The Pathogenesis and Therapies of Striated Muscle Laminopathies

Autor: Astrid Brull, Blanca Morales Rodriguez, Gisèle Bonne, Antoine Muchir, Anne T. Bertrand

Publikováno v: Frontiers in Physiology, Vol 9 (2018)

Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized by early contractures, skeletal muscle weakness, and cardiomyopathy. During the last 20 years, various genetic approaches led to the identification of causal genes of EDMD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::735b28a8c9c94980c3ffc0fe24c7c509
https://www.frontiersin.org/article/10.3389/fphys.2018.01533/full

List of Contributors

Autor: Paul D. Allen, Ovid C. Amadi, Mark Anderson, Daniel C. Andersson, Stephen L. Archer, Andrea L.H. Arnett, Richard Arnoldi, Sarah Arrowsmith, Elisabeth R. Barton, Rhonda Bassel-Duby, Stephen L. Belmonte, Rabah Ben Yaou, Ivor J. Benjamin, Bradford C. Berk, Donald M. Bers, Anne T. Bertrand, Matthew J. Betzenhauser, Morris J. Birnbaum, Brian L. Black, Burns C. Blaxall, Roberto Bolli, Elena Bonanno, Gisèle Bonne, Carsten G. Bönnemann, Nina Bowens, Hasse Brønnum, Benoit G. Bruneau, Margaret Buckingham, Theodor Burdyga, Gillian Butler-Browne, Peter Buttrick, P.A. Cahill, John W. Calvert, Kevin P. Campbell, Stephen C. Cannon, Paola Cattaneo, Aravinda Chakravarti, Jeffrey S. Chamberlain, Christine Chaponnier, Stephanie E. Chin, Ethan David Cohen, Ronald D. Cohn, Gianluigi Condorelli, James H. Cummins, Kelvin P. Davies, Bridget Deasy, Deeptankar DeMazumder, Linda Demer, Cor de Wit, Harry C. Dietz, Fabio Di Lisa, Salvatore DiMauro, Stephan Dobner, Gerald W. Dorn, Shirin Doroudgar, V. Reggie Edgerton, Charles P. Emerson, Andrew G. Engel, Karyn A. Esser, Yong-Hu Fang, QiPing Feng, Glenn I. Fishman, Thomas Force, Nikolaos G. Frangogiannis, Clara Franzini-Armstrong, Norbert Frey, Maria G. Frid, Giulio Gabbiani, Bruce D. Gelb, Eric M. George, A. Martin Gerdes, Burhan Gharaibeh, Hamilton S. Gillespie, Christopher C. Glembotski, Tommaso Gori, Joey P. Granger, Kathy K. Griendling, Susan J. Gunst, Denis C. Guttridge, Roger J. Hajjar, Ronald G. Haller, Erick O. Hernández-Ochoa, Neil Herring, Lula L. Hilenski, Joseph A. Hill, Michael A. Hill, Charis L. Himeda, Boris Hinz, Steven R. Houser, Johnny Huard, William F. Jackson, John Lynn Jefferies, Raghu Kalluri, Fadia A. Kamal, Ashish Kapoor, David A. Kass, Arnold M. Katz, Daniel P. Kelly, Aarif Y. Khakoo, Sujay V. Kharade, Eugene Kim, Jung A. Kim, Richard N. Kitsis, Yvonne M. Kobayashi, Issei Komuro, Irina Kramerova, Callie S. Kwartler, Edward G. Lakatta, Triona Lally, Lars Larsson, Michael V.G. Latronico, Sergio Lavandero, Mitra Lavasani, Richard T. Lee, Se-Jin Lee, Young il Lee, David J. Lefer, Leslie A. Leinwand, Benjamin Levine, Yong Li, Stephen B. Liggett, Zhiqiang Lin, Ning Liu, Jose R. Lopez, Douglas W. Losordo, Calum A. MacRae, Yasuhiro Maejima, Mark W. Majesky, Andrew R. Marks, Melissa L. Martin, Alessandro Mauriello, Alicia Mayeuf, John J. McCarthy, Elizabeth McNally, Gerald A. Meininger, Mark Mercola, Joseph M. Miano, M. Carrie Miceli, Dianna M. Milewicz, Kathleen G. Morgan, Edward E. Morrisey, Vincent Mouly, Thomas Münzel, Anne Murphy, Anthony J. Muslin, R. Kannan Mutharasan, Kanneboyina Nagaraju, Atsuhiko T. Naito, Carlo Napolitano, Sandeep Nathan, Eva Nozik-Grayck, Julien Ochala, Stefan Offermanns, Eric N. Olson, Augusto Orlandi, Roberto Papait, Michael S. Parmacek, Amit R. Patel, David J. Paterson, Asif R. Pathan, Cam Patterson, Richard J. Paul, Lin Piao, Silvia G. Priori, William T. Pu, Rashmi Ram, J. Eduardo Rame, Julian N. Ramos, E.M. Redmond, Carlo Reggiani, Stuart Rich, Chiara Rinaldi, Beverly A. Rothermel, Roland R. Roy, Nancy J. Rusch, John J. Ryan, Junichi Sadoshima, Alejandra San Martín, Richard C. Scarpulla, Stefano Schiaffino, Ernesto L. Schiffrin, Jay W. Schneider, Martin F. Schneider, Andreas Schober, Manuel Scimeca, Luca Scorrano, Tiffany L. Shih, Ichiro Shiojima, Marion J. Siegman, Elaine Smolock, R. John Solaro, Avril V. Somlyo, James R. Sowers, Luigi Giusto Spagnoli, Melissa J. Spencer, David Spragg, Miroslava Stastna, Charles Steenbergen, Kurt R. Stenmark, James B. Strait, H. Lee Sweeney, Heinrich Taegtmeyer, Eiki Takimoto, Keshari M. Thakali, Wesley J. Thompson, Charles Thornton, James G. Tidball, Yin Tintut, Gordon F. Tomaselli, Rhian M. Touyz, Jeffrey A. Towbin, Kevin Tsai, Denis Vallese, Jennifer E. Van Eyk, Eva Van Rooij, Susanne Vetterkind, Nicol C. Voermans, Antonio Volpe, Xuejun Wang, Yanggan Wang, Yibin Wang, Stephanie Ware, Christian Weber, Adam Whaley-Connell, Russell A. Wilke, Angela Wirth, Susan Wray, Erica Yada, Michael E. Yeager, Katherine E. Yutzey, Daniela Zablocki, Cuihua Zhang, Hanrui Zhang, Pingbo Zhang, Zhou Zhe, Bin Zhou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::94773eb179b217893ad80e51b8ad4353
https://doi.org/10.1016/b978-0-12-381510-1.00117-4