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.
K. Charton, J. Sarparanta, A. Vihola, A. Milic, P. H. Jonson, L. Suel, H. Luque, I. Boumela, I. Richard, and B. Udd. CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. Hum. Mol. Genet., 24(13):3718-3731, Jul 2015.[PubMed:25877298].
M. Pryadkina, W. Lostal, N. Bourg, K. Charton, C. Roudaut, M. L. Hirsch, and I. Richard. A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence. Mol Ther Methods Clin Dev, 2:15009, 2015.[PubMed:26029720]
F. Monjaret, N. Bourg, L. Suel, C. Roudaut, F. Le Roy, I. Richard, and K. Charton. Cis-splicing and translation of the pre-trans-splicing molecule combine with efficiency in spliceosome-mediated RNA trans-splicing. Mol. Ther., 22(6):1176-1187, Jun 2014.[PubMed:24618805]