Équipe : Pathophysiology of neuromuscular diseases
Responsable : J Lporte
Laboratoire : UMR 7104/U1258 Institut de Génétique et de Biologie Moléculaire et Cellulaire (Strasbourg)
()
Descriptif :
We study rare and severe neuromuscular disorders caused by mutations in proteins affecting organelles and membrane trafficking, or calcium homeostasis. Human diseases studied include congenital myopathies (myotubular, centronuclear, Nemaline, Cores, tubular aggregates...), Charcot-Marie-Tooth preipheral neuropathies and Alzheimer. Main proteins studied include phospholipid phosphatases, amphiphysins, dynamins, STIM1 and calcium channels. While focusing on these genetic diseases, our approaches are multidisciplinary and encompass the identification of the implicated genes by high-throughput sequencing, the study of the molecular and cellular functions of these proteins in vitro, the validation of mammalian disease models, and the use of viral vectors (AAVs) for pathophysiology studies and preclinical therapeutic trials. In parallel, we study the function of these proteins in skeletal muscle under normal and pathological conditions through the development of novel imaging methods (correlative microscopy and in vivo imaging) in close contact with the IGBMC platforms. Omics approaches are also undertaken (transcriptome, proteome, metabolome). Overall, our main aim is to gain an integrated overview of muscle functions under normal and pathological conditions, from the molecule to the in vivo, and translate our findings to patients with better diagnostic strategies and therapeutic proof-of-concept.
We study rare and severe neuromuscular disorders caused by mutations in proteins affecting organelles and membrane trafficking, or calcium homeostasis. Human diseases studied include congenital myopathies (myotubular, centronuclear, Nemaline, Cores, tubular aggregates...), Charcot-Marie-Tooth preipheral neuropathies and Alzheimer. Main proteins studied include phospholipid phosphatases, amphiphysins, dynamins, STIM1 and calcium channels. While focusing on these genetic diseases, our approaches are multidisciplinary and encompass the identification of the implicated genes by high-throughput sequencing, the study of the molecular and cellular functions of these proteins in vitro, the validation of mammalian disease models, and the use of viral vectors (AAVs) for pathophysiology studies and preclinical therapeutic trials. In parallel, we study the function of these proteins in skeletal muscle under normal and pathological conditions through the development of novel imaging methods (correlative microscopy and in vivo imaging) in close contact with the IGBMC platforms. Omics approaches are also undertaken (transcriptome, proteome, metabolome). Overall, our main aim is to gain an integrated overview of muscle functions under normal and pathological conditions, from the molecule to the in vivo, and translate our findings to patients with better diagnostic strategies and therapeutic proof-of-concept.
Thèmes :
Chercheurs :
Modifier les
données de l'équipe (réservé aux membres de l'équipe)