PROGRESSIVE

MUSCULAR

DYSTROPHIES

 

 


ABOUT US

Our laboratory focuses on progressive muscular dystrophies, in particular Duchenne Muscular Dystrophy and the recessive forms of Limb Girdle Muscular Dystrophies (LGMD2). These latter myopathies are grouped together on the basis of the common predominant involvement of proximal limb muscles. We are particularly interested in LGMD2A due to mutations in the gene coding for calpain 3, a protease of the skeletal muscle, LGMD2B which is due to defects in the dysferlin gene, a protein involved in membrane repair and the sarcoglycans, transmembrane proteins forming a complex at the plasma membrane.

 

Our guiding principles are to study fundamental biological processes using these diseases as models and to develop innovative therapeutic strategies, especially by viral-mediated gene transfer.

 

HIGHLIGHTS

William Lostal, Carinne Roudaut, Marine Faivre, Karine Charton, Laurence Suel, Nathalie Bourg, Heather Best, John Edward Smith, Jochen Gohlke, Guillaume Corre, Xidan Li, Zaher Elbek, Ralph Knoell, Jack-Yves Deschamps, Henk Granzier, and Isabelle Richard. Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2a. Science Translational Medicine, 11(520), 2019. [ DOI | arXiv | full text| abstract]

 

S. F. Henriques, E. Gicquel, J. Marsolier, and I. Richard. Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants. Hum. Mutat., 40(10):1874-1885, 10 2019. [DOI:10.1002/humu.23827] [PubMed:31268217].

 

D. Israeli, J. Cosette, G. Corre, F. Amor, J. Poupiot, D. Stockholm, M. Montus, B. Gjata, and I. Richard. An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress. Mol Ther Methods Clin Dev, 13:494-502, Jun 2019. [PubMed Central:PMC6545357] [DOI:10.1016/j.omtm.2019.04.007] [PubMed:31194043].

 

E. C. Oates, K. J. Jones, S. Donkervoort, A. Charlton, S. Brammah, J. E. Smith, J. S. Ware, K. S. Yau, L. C. Swanson, N. Whiffin, A. J. Peduto, A. Bournazos, L. B. Waddell, M. A. Farrar, H. A. Sampaio, H. L. Teoh, P. J. Lamont, D. Mowat, R. B. Fitzsimons, A. J. Corbett, M. M. Ryan, G. L. O'Grady, S. A. Sandaradura, R. Ghaoui, H. Joshi, J. L. Marshall, M. A. Nolan, S. Kaur, J. Punetha, A. Topf, E. Harris, M. Bakshi, C. A. Genetti, M. Marttila, U. Werlauff, N. Streichenberger, A. Pestronk, I. Mazanti, J. R. Pinner, C. Vuillerot, C. Grosmann, A. Camacho, P. Mohassel, M. E. Leach, A. R. Foley, D. Bharucha-Goebel, J. Collins, A. M. Connolly, H. R. Gilbreath, S. T. Iannaccone, D. Castro, B. B. Cummings, R. I. Webster, L. Lazaro, J. Vissing, S. Coppens, N. Deconinck, H. M. Luk, N. H. Thomas, N. C. Foulds, M. A. Illingworth, S. Ellard, C. A. McLean, R. Phadke, G. Ravenscroft, N. Witting, P. Hackman, I. Richard, S. T. Cooper, E. J. Kamsteeg, E. P. Hoffman, K. Bushby, V. Straub, B. Udd, A. Ferreiro, K. N. North, N. F. Clarke, M. Lek, A. H. Beggs, C. G. Bonnemann, D. G. MacArthur, H. Granzier, M. R. Davis, and N. G. Laing. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann. Neurol., 83(6):1105-1124, 06 2018. [PubMed Central:PMC6105519] [DOI:10.1002/ana.25241] [PubMed:10625306].

 

E. Gicquel, N. Maizonnier, S. J. Foltz, W. J. Martin, N. Bourg, F. Svinartchouk, K. Charton, A. M. Beedle, and I. Richard. AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. Hum. Mol. Genet., 26(10):1952-1965, 05 2017. [PubMed Central:PMC6251615] [DOI:10.1093/hmg/ddx066] [PubMed:23817215].

 

 

 

           
               

SUPPORT

  • Leducq Foundation
  • LGMD2I Foundation
  • Coalition to Cure Calpainopathy