Muscle cell organization and therapy of dominant centronuclear myopathy
Muscle cell organization and therapy of dominant centronuclear myopathy
Strengthening knowledge on fundamental aspects of muscle biology is one central challenge in order to decipher pathomechanisms and identify targets for therapeutic intervention for neuromuscular disorders. This is particularly true for diseases due to mutations in genes encoding proteins with pleiotropic roles. One archetypal example is illustrated by the Dynamin 2-related centronuclear myopathy (CNM). There is no available treatment and the pathomechanisms are still not fully understood for this disease characterized by abnormal nuclear centralization. The team has a long-lasting interest in the dominant CNM exemplified by identification of the causing gene, characterization of clinical and histopathological phenotypes, development of animal models, characterization of the role of the endocytosis machinery in muscle, identification of several pathomechanisms and development of gene-based therapies. The objectives of the team are: i) to dissect fundamental mechanisms of muscle cells, relevant to primarily understand the dominant CNM, and beyond, numerous other neuromuscular disorders, and ii) to develop experimental therapies for the dominant CNM.
In this context, the following projects are developed:
- Defining the role of the endocytosis machinery in muscle (S. Vassilopoulos).
- Investigating the connections between cytoskeletons and nuclear envelope (B. Cadot, more information in https://cadotbruno.com/).
- Understanding the Mechanobiology in healthy and pathological muscle (C. Coirault).
- Studying the pathomechanisms and developing therapies for dominant CNM (D. Trochet)
- Optimizing the AAV-mediated transduction efficacy in pathological muscle (S. Benkhelifa-Ziyyat).
- Characterizing the histopathological features of congenital myopathies (N. Romero).
| Name | Position | ORCID |
|---|
- Bruno Cadot, Edgar Gomes. Skeletal Muscle. Encyclopedia of Cell Biology, Elsevier, pp.189-196, 2023, ⟨10.1016/B978-0-12-821618-7.00179-6⟩. ⟨hal-03938492⟩
- Nicolas Rose, Berenice Estrada Chavez, Surabhi Sonam, Thao Nguyen, Gianluca Grenci, et al.. Bioengineering a Miniaturized In Vitro 3D Myotube Contraction Monitoring Chip To Model Muscular Dystrophies. Biomaterials, 2022, ⟨10.1016/j.biomaterials.2022.121935⟩. ⟨hal-03278692⟩
- Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno CADOT, John Rendu, et al.. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. Acta Neuropathologica Communications, 2022, 10 (1), pp.101. ⟨10.1186/s40478-022-01400-0⟩. ⟨hal-03820052⟩
- Amédée Mollard, Cécile Peccate, Anne Forand, Julie Chassagne, Laura Julien, et al.. Muscle regeneration affects Adeno Associated Virus 1 mediated transgene transcription. Scientific Reports, 2022, 12 (1), pp.9674. ⟨10.1038/s41598-022-13405-9⟩. ⟨hal-03828271⟩
- Caroline Le Dour, Maria Chatzifrangkeskou, Coline Macquart, Maria M Magiera, Cécile Peccate, et al.. Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations. Nature Communications, 2022, 13 (1), pp.7886. ⟨10.1038/s41467-022-35639-x⟩. ⟨hal-03921784⟩
- Stéphane Vassilopoulos. Caveolae and Bin1 for ring-shaped platforms for T-tubule initiation. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. ⟨hal-03920050⟩
- A Jeannin-Girardon, P Collet, K Chennen, O Poch, Nb Romero, et al.. MYO-xIA : Quantification de marqueurs pathologiques sur coupes histologiques et exploitation de rapport de biopsie par intelligence artificielle explicative pour le diagnostic de myopathies congénitales. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. 2022. ⟨hal-03953252⟩
- Ines Akrouf, Julie Chassagne, Pierre Meunier, Zoheir Guesmia, Bruno Cadot, et al.. Modulation of intracellular pathways involved in the AAV trafficking to optimize AAV-based therapies in Duchenne muscular dystrophy and autosomal dominant Centronuclear Myopathy. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. 2022. ⟨hal-03946260⟩
- C Gentil, A Vergnol, L Giordani, B Cadot, P Meunier, et al.. Combined treatment GDF5 and AAV-microDystrophin for Duchenne Muscular Dystrophy. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. 2022. ⟨hal-03944592⟩
- Sestina Falcone, Marais T., Traoré M., Bourguiba A., Gentil C., et al.. Unraveling the role of GDF5 therapeutic potential in Amyotrophic Lateral Sclerosis. 19 Journée de la societé Française de Myologie, Nov 2022, Toulouse (FR), France. ⟨hal-04002173⟩
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