The Team
  • Researchers

    Valérie BIANCALANA

    Johann BOHM

    Belinda COWLING

    Jocelyn LAPORTE

  • Post-Doctoral Fellows

    Valentina Maria LIONELLO

  • PhD Students

    Coralie BORNE

    Sarah DJEDDI

    Sarah DJERROUD

    Raquel GOMEZ OCA

    Xavière LORNAGE

    Xènia MASSANA MUNOZ

    Vasugi NATTARAYAN

    Roberto SILVA ROJAS

  • Engineers & Technicians

    Clément CANU

    Laurine DAGUET

    Amandine GIRARD

    Christine KRETZ

  • Collaborateur Occasionnel

    Kirsley CHENNEN

Translational medicine and neurogenetics

Pathophysiology of neuromuscular diseases

We study rare and severe neuromuscular disorders caused by mutations in proteins affecting organelles and membrane trafficking. Our principle focus is on three families of proteins that regulate or are regulated by membrane lipids: the phosphoinositide phosphatase myotubularins, the membrane remodelling amphiphysins and the membrane fissioning GTPase dynamins. Both myotubularins and dynamin 2 are mutated in centronuclear myopathies, severe congenital myopathies characterized by mislocalisation of nuclei and in Charcot-Marie-Tooth peripheral neuropathies, suggesting a common mechanism.
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 cells and in C. elegans, 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.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 1258
1 rue Laurent Fries / BP 10142 / 67404 Illkirch CEDEX / France Tél +33 (0)3 88 65 32 00 / Fax +33 (0)3 88 65 32 01 / directeur.igbmc@igbmc.fr