Identify the genetic basis of myopathies
Subgroup Leader : Valérie BIANCALANA
We study rare and severe neuromuscular disorders caused by mutations in proteins controlling intracellular organization and dynamics. We aim to tackle the three main bottlenecks in this field:
Identify the genetic basis of myopathies, myalgia and high athletic performances
Project leaders : Valérie BIANCALANA, Johann BOHM, Jocelyn LAPORTE
Understand and cure myotubular/centronuclear myopathies through gene modulation and pharmacology
Project leader : Jocelyn LAPORTE
Understand and cure tubular aggregates myopathy and Stormorken syndrome through gene modulation and pharmacology
Project leader : Johann BOHM
Subgroup Leader : Valérie BIANCALANA
Subgroup Leader : Jocelyn LAPORTE
Cells ; Volume: 10 ; Page: 1730
Autophagy ; Volume: 17 ; Page: 1-382
Molecular Therapy
American Journal of Human Genetics ; Volume: 107 ; Page: 1078-1095
Frontiers in Physiology ; Volume: 11
JCI Insight ; Volume: 5
PLoS ONE ; Volume: 15 ; Page: e0236962
Annals of Neurology ; Volume: 87 ; Page: 217-232
Annals of Neurology ; Volume: 88 ; Page: 332-347
European Journal of Medical Genetics ; Volume: 63
Current fundings:
Myotubular myopathy is a rare genetic disease characterized by severe muscle weakness that can cause breathing difficulties and for which no treatment…
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Follow our publications and latest research on Researchgate : www.researchgate.net/profile/Jocelyn-Laporte
Raw data for our study on Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies. Mol Ther. 2021 Apr 30:S1525-0016(21)00247-1.
www.ncbi.nlm.nih.gov/geo/query/acc.cgi
www.sciencedirect.com/science/article/abs/pii/S1525001621002471
In the press: