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.
- Identification of molecular basis for congenital myopathies by next generation sequencing
- Membrane and organelles trafficking in skeletal muscle under normal and pathological conditions
- Characterization of faithful animal models for human myopathies
- Pre-clinical trials in animal models for congenital myopathies
- European consortium on myotubular/centronuclear myopathies sponsored by ENMC (J Laporte is co-chairman)
- A Beggs, Cildren’s Hospital, Boston, USA: “Molecular basis and pathophysiology of congenital myopathies”
- A Bolino, San Raffaele Institute, Milano, Italy: “Pathophysiology of neuromuscular diseases due to mutations in several myotubularins” (European E-rare grant)
- NB Romero, B Eymard, Myology Institute and Centre de Référence de Pathologie Neuromusculaire, AP-HP, Paris, France: “Identification of novel genes for congenital myopathies” (Contrat Hospitalier de Recherche Translationnelle to J Laporte)
- JL Mandel, Genetic diagnosis laboratory, Strasbourg Hospital, France: “Next generation sequencing for disease genes identification and diagnosis”
- B Payrastre, U563, Toulouse, France: “Roles of the phosphoinositides PtdIns3P, PtdIns(3,5)P2 and PtdIns5P in cell signalling and trafficking; implication in human disease”
- Jocelyn LAPORTE - Scientific prize - Comité Alsace de la Fondation pour la Recherche Médicale (FRM) - 2014
- Jocelyn LAPORTE - Prix Jean Valade - Fondation de France - 2013
- Ivana ZIVKOVIC - Best oral presentation prize - Best oral presentation prize at International Myology Congress - 2011
- Leonela AMOASII - Best oral presentation prize - Journée Campus d'Illkirch - 2011
- Johann BOHM - Best oral presentation prize - Journée Campus d'Illkirch - 2010
- Karim HNIA - Best oral presentation prizen at the World Muscle Society congress (Japan) - Elsevier - 2010
- Belinda COWLING - Best poster presentation prize at the World Muscle Society congress, Switzerland - Elsevier - 2009
- Johann BOHM - Best poster presentation prize at the World Muscle Society congress, Switzerland - Elsevier - 2009
- Jocelyn LAPORTE - Pediatric Pathology Research Senior Prize - Association pour l'étude de la pathologie pédiatrique - Assistance Publique des Hôpitaux de Paris - 2009
- Jocelyn LAPORTE - Scientific Prize - Association LEYLA Karam de lutte contre les maladies orphelines - 2008
- Jocelyn LAPORTE - Scientific Prize - Comité Alsace de la Fondation pour la Recherche Médicale (FRM) - 2007
- Oct. 26, 2015 - Amphiphysin: a key hub for nuclear positioning
- June 5, 2015 - High resolution in vivo images of Zebrafish to understand proteinopathies
- Feb. 24, 2014 - An exciting breakthrough for the treatment of Centronuclear myopathies
- Jan. 17, 2013 - A new gene involved in myopathies
- April 21, 2012 - Major breakthrough for neuromuscular diseases diagnosis
- Dec. 6, 2010 - Myopathies, Research in progress : the desmine/myotubularine complexe offers new therapeutic hopes
Adv Biol Regul Sept. 15, 2016 .
Am J Hum Genet Sept. 1, 2016 ; 99:753-61 .
Biochem Biophys Res Commun July 29, 2016 ; 476:167-73 .
Nature Sept. 14, 2016 .
Pediatr Neurol Feb. 6, 2016 ; 58:107-112 .
Nature Jan. 21, 2016 ; 529:408-12 .
Journal of Neuromuscular Diseases 2015 ; 2:193-203 .
Genet Mol Biol May 2015 ; 38:147-51 .
Dev Cell Oct. 26, 2015 ; 35:186-98 .
Journal of Neuromuscular Diseases 2015 2015 ; 2:2019-227 .