Signal pathways and striated muscles
Striated muscles account for about 40% of total body weight, contain 50-75% of the body’s total protein and contribute significantly to multiple body functions. There are two types of striated muscle: skeletal and cardiac muscles. They share a common architecture characterized by a very particular and well described arrangement of muscle cells and associated connective tissues.
Muscular dystrophies correspond to a family of muscle diseases characterized by weakness and progressive muscle degeneration. At the skeletal muscular level, they manifest themselves by a decrease in muscle strength (muscular dystrophy), and a lack of mobilité́ joints (muscle retractions) that begin in childhood or in young adults. The decrease in muscle strength leads, in a few cases, to a loss of independent walking, making it necessary to use a power wheelchair to get around. These are diseases of genetic origin. There are several forms that differ in the age of onset of symptoms, the nature of the muscles affected and their severity. At the cardiac level, the presence of abnormalities is observed at a more or less advanced age, mainly in the form of dilated cardiomyopathy, which is the main cause of death and makes the severity of these diseases. At present, there is no curative treatment available.
Our group is particularly interested in studying the molecular and cellular mechanisms involved in two muscular dystrophies: Duchenne muscular dystrophy and Emery-Dreifuss muscular dystrophy. It appears important and necessary to increase our knowledge of the pathophysiology of muscular dystrophies and cardiomyopathies in order to unveil the cellular/molecular mechanisms that will allow us to target future therapeutic approaches. We are studying in vitro and in vivo models of these pathologies and developing novel pharmacological therapies based on our discoveries.
Our research is based on 3 axes:
- Tissue organization of striated muscles in health and pathology
- Signalling pathways regulating the links between structure and function in striated muscles
- Control of striated muscle gene expression through signalling pathways
| Name | Position | ORCID |
|---|
- Marine Ferrand, Gauthier Giordano, Nathalie Mougenot, Pierre-Léo Laporte, Nicolas Vignier, et al.. Intracardiac electrophysiology to characterize susceptibility to ventricular arrhythmias in murine models. Frontiers in Physiology, 2024, 15, ⟨10.3389/fphys.2024.1326663⟩. ⟨hal-04446798⟩
- Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea Seferian, et al.. Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation. Neuropathology and Applied Neurobiology, 2024, 50 (1), ⟨10.1111/nan.12952⟩. ⟨hal-04409827⟩
- Brandon H. Hayes, Timothée Vergne, Mathieu Andraud, Nicolas Rose. Mathematical modeling at the livestock-wildlife interface: scoping review of drivers of disease transmission between species. Frontiers in Veterinary Science, 2023, 10, pp.1225446. ⟨10.3389/fvets.2023.1225446⟩. ⟨hal-04223851⟩
- Magali Seguret, C. Jouve, Z R. Al Sayed, C. Pereira, V. Ragot, et al.. Modeling of LMNA p.H222P mutation- related cardiomyopathy using human induced pluripotent stem cells. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189728⟩
- Maria-Belen Lopez-Herdoiza, Stéphanie Bauché, Baptiste Wilmet, Caroline Le Duigou, Delphine Roussel, et al.. C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice. Frontiers in Cellular Neuroscience, 2023, 17, ⟨10.3389/fncel.2023.1155929⟩. ⟨hal-04191782⟩
- Marion Masingue, Olivia Cattaneo, Nicolas Wolff, Céline Buon, Damien Sternberg, et al.. New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome. Scientific Reports, 2023, 13 (1), pp.14054. ⟨10.1038/s41598-023-41008-5⟩. ⟨hal-04191765⟩
- 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⟩
- 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⟩
- Tanya Stojkovic, Marion Masingue, Helène Turmel, Marianne Hezode-Arzel, Anthony Béhin, et al.. Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes. Neuromuscular Disorders, 2022, 32 (11-12), pp.870-878. ⟨10.1016/j.nmd.2022.10.001⟩. ⟨hal-04074000⟩
- Chiara D’ercole, Paolo D’angelo, Veronica Ruggieri, Daisy Proietti, Laura Virtanen, et al.. Spatially resolved transcriptomics reveals innervation-responsive functional clusters in skeletal muscle. Cell Reports, 2022, 41 (12), pp.111861. ⟨10.1016/j.celrep.2022.111861⟩. ⟨hal-04019028⟩
Powered by HAL 
