Publications

Rescue in XLCNM by genetic cross (proof-of-principle):
Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J. Reducing dynamin 2 expression rescues X-linked Centronuclear Myopathy. J Clin Invest. Mar;124(3):976-8.

http://www.ncbi.nlm.nih.gov/pubmed/24569376
https://www.jci.org/articles/view/71206

Rescue by genetic cross in BIN1 form of disease (proof-of-principle):
Cowling BS*,Prokic I*, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A, Laporte J. Amphiphysin (BIN1) negatively regulates dynamin (DNM2) for normal muscle maturation. J Clin Invest, 2017 Nov 13. *equal first authors.
https://www.ncbi.nlm.nih.gov/pubmed/29130937
https://www.jci.org/articles/view/90542

Rescue in XLCNM, using ASO (developing translated approach):
Tasfaout H, Buono S, Guo S, Kretz C, Messaddeq N, Booten S, Greenlee S, Monia BP, Cowling BS*, Laporte J*. Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice. Nat Commun. 2017 Jun 7;8:15661.
*equal last and corresponding authors
https://www.ncbi.nlm.nih.gov/pubmed/28589938
https://www.nature.com/articles/ncomms15661

Innovative modelling approach by Dynacure/ISMS results in the 1st peer reviewed study on quantification of the centronuclear myopathy patient population:
I. Vandersmissen et al., An integrated modelling methodology for estimating the prevalence of centronuclear myopathy, Neuromuscular Disorders (2018),
https://doi.org/10.1016/j.nmd.2018.06.012