Our research is focused on both pathophysiology and biotherapies for Myotonic Dystrophy (DM1), and follows two complementary axes:

• . Deciphering pathophysiologic mechanisms triggered by CUGexp-RNA and involved in :
  •    . alterations of the motor unit and the muscle function
  •    . non-muscular features (cardio-vascular….)
• . Development of innovative therapeutic approaches for DM1, and evaluation using cellular and animal models

Group members

Denis FURLING, PhD, DR – CNRS, Team leader
Arnaud KLEIN, PhD, CR – INSERM
Frédérique RAU, PhD, CR – INSERM
Alain SUREAU, PhD, CR – INSERM
Ludovic ARANDEL, Msc, IE – AIM
Aurélien CORDIER, IE
Xavière LORNAGE, PhD, Post-Doc
Charles FRISON-ROCHE, PhD student
Florent PORQUET, PhD, Post-Doc
Maria KONDILI, IE

Contact :  denis.furling@sorbonne-universite.fr

Last publications

• Arandel L, Matloka M, Klein AF, Rau F, Sureau A, Ney M, Cordier A, Kondili M, Polay-Espinoza M, Naouar N, Ferry A, Lemaitre M, Begard S, Colin M, Lamarre C, Tran H, Buée L, Marie J, Sergeant N, Furling D. Reversal of RNA toxicity in myotonic dystrophy via a decoy RNA-binding protein with high affinity for expanded CUG repeats.Nat Biomed Eng. 2022 Feb 10. doi: 10.1038/s41551-021-00838-2. Epub ahead of print. PMID: 35145256.
• Monceau A, Moutachi D, Lemaitre M, Garcia L, Trollet C, Furling D, Klein A, Ferry A. Dystrophin restoration after AAV-U7-mediated dmd exon-skipping is modulated by muscular exercise in the severe D2-mdx DMD murine model. The Amercan Journal of Pathology 2022 Sep 13:S0002-9440(22)00279-6 ; doi: 10.1016/j.ajpath.2022.07.016
• Tsai YC, de Pontual L, Heiner C, Stojkovic T, Furling D, Bassez G, Gourdon G, Tomé S. Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing. The Journal Molecular of Diagnostics, 2022. 24: 1143-1154. doi: 10.1016/j.jmoldx.2022.08.003.
• Monceau A, Delacroix C, Lemaitre M, Revet G, Furling D, Agbulut O, Klein A, Ferry A. The beneficial effect of chronic muscular exercise on muscle fragility is increased by Prox1 gene transfer in dystrophic mdx muscle. PLoS One, 2022. 17(4):e0254274; doi: 10.1371/journal.pone.0254274.
• van Cruchten RTP, van As D, Glennon JC, van Engelen BGM, ‘t Hoen PAC; OPTIMISTIC consortium; ReCognitION consortium including D. Furling & G. Gourdon. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC Medicine. 2022 20(1):395. doi: 10.1186/s12916-022-02591-y.
• D. Furling. Cas9 targeting of toxic foci of RNA repeats. News & Views. Nature Biomedical Engineering 2021 5, 130-131 doi: 10.1038/s41551-021-00688-y
• Mérien A, Tahraoui-Bories J, Cailleret M, Dupont JB, Leteur C, Polentes J, Carteron A, Polvèche H, Concordet JP, Pinset C, Jarrige M, Furling D & Martinat C. CRISPR gene editing in pluripotent cells reveals the function of MBNL proteins during human in vitro myogenesis. Hum Mol Genet. 2021 Dec 17;31(1):41-56. doi: 10.1093/hmg/ddab218
• Moulay G, Bitoun M, Furling D, Vassilopoulos S. How alternative splicing contributes to clathrin’s structural plasticity. Med Sci (Paris) 2021 Dec;37(12):1186-1188. doi: 10.1051/medsci/2021178
• Dastidar S., Majumdar D., Tipanee J., Singh K., Klein A.F., Furling D., Chuah M.K., & VandenDriessche T.  Comprehensive transcriptome-wide analysis of spliceopathy correction using CRISPR/Cas9 in myotonic dystrophy patient specific iPSC-derived cardiomyocyte-like cells. Molecular Therapy (2021) doi.org/10.1016/j.ymthe.2021.08.004

Other publications
http://www.ncbi.nlm.nih.gov/pubmed/?term=Furling+D