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

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy:
Buono S, Ross JA, Tasfaout H, Levy Y, Kretz C, Tayefeh L, Matson J, Guo S, Kessler P, Monia BP, Bitoun M, Ochala J, Laporte J, Cowling BS. Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy. Proc Natl Acad Sci U S A. 2018 Oct 23;115(43):11066-11071.
http://www.pnas.org/content/115/43/11066.long

Development of therapies for Neuromuscular Disorders:
Cowling BS, Thielemans L. Translational medicine in neuromuscular disorders: from academia to industry. Dis Mod Mech.2020 13: dmm041434 doi: 10.1242/dmm.041434 Published 24 October 2019.
https://dmm.biologists.org/content/13/2/dmm041434

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

Improving our understanding of DNM2 mutations in human disease:
Muñoz XM, Buono S, Koebel P, Laporte J, Cowling BS. Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy. Hum Mol Genet. 2019 Oct 19. [Epub ahead of print] PubMed PMID: 31628461.
https://www.ncbi.nlm.nih.gov/pubmed/31628461
https://academic.oup.com/hmg/advance-article-abstract/doi/10.1093/hmg/ddz249/5599813?redirectedFrom=fulltext

Antisense therapy for Centronuclear Myopathies:
Cowling BS, Guo S. Antisense oligonucleotide-mediated DNM2 targeting in centronuclear myopathies: from preclinical proof of concept towards clinical trials. Monographic special issue: Oligonucleotides & peptides – Chemistry today, TKS technoscience. 2019: 37(2), 68-70.
https://www.teknoscienze.com/tks_article/antisense-oligonucleotide-mediated-dnm2-targeting-in-centronuclear-myopathies-from-preclinical-proof-of-concept-towards-clinical-trials/

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