Biotherapy & large animal models of NMDs group
Biology of the neuromuscular system team (F.Relaix, IMRB, Créteil)
We study the skeletal muscles of the body that allow an individual to hold a posture, to move, to perform movements, to warm up and to breathe. These muscles are under voluntary control of the central nervous system and this is why we speak of the neuromuscular system. When the muscle does not develop harmoniously or malfunctions, we speak of myopathies or neuromuscular diseases. These diseases, sometimes fatal and very often debilitating, spontaneously affect children, adults, domestic animals and today remain mostly untreated.
Our research aims to provide physicians and veterinarians with molecular or cellular medical tools enabling them to avoid the appearance of these diseases and, when they do occur, to diagnose them with precision in order to treat them more effectively and sustainably. We work on animal and human neuromuscular diseases, convinced that this comparative medicine benefits our pets and patients by simultaneously improving animal well-being and improving the quality of life for patients and families.
V. Mariot, C. Le Guiner, I. Barthelemy, M. Montus, S. Blot, S. Torelli, J. Morgan, F. Muntoni, T. Voit and J. Dumonceaux. Myostatin is a quantifiable biomarker for monitoring pharmaco-gene therapy in Duchenne Muscular Dystrophy. Mol Ther Methods Clin Dev. 2020 Jun 24;18:415-421. doi: 10.1016/j.omtm.2020.06.016. eCollection 2020 Sep 11.
I. Barthelemy, N. Calmels, RB. Weiss, L. Tiret, A. Vulin, N. Vein, C.Peccate, C. Drougard, C. N. Beroud, N. Deburgrave, JL. Thibaud, C. Escriou, I. Punzon, L. Garcia, JC Kaplan, KM. Flanigan, F. Leturcq and S. Blot. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterization. Skelet Muscle. 2020 Aug 7;10(1):23. doi: 10.1186/s13395-020-00239-0.
B. Ghaleh, I. Barthelemy, J. Wojcik, L. Sambin, A. Bizé, L. Hittinger, T. Duc Tran, F. Porte, S. Blot and JB Su. Protective effects of rimeporide on left ventricular function in golden retriever muscular dystrophy dogs. Int J Cardiol. 2020 Aug 1;312:89-95. doi: 10.1016/j.ijcard.2020.03.031. Epub 2020 Mar 12).
I. Barthelemy, JL. Thibaud, P. De Fornel, M. Cassano, I. Punzon, D. Mauduit, JT Vilquin, P. Devauchelle, M. Sampaolesi and S. Blot. In vivo stem cell tracking using scintigraphy in a canine model of DMD. Sci Rep. 2020 Jun 30;10(1):10681. doi: 10.1038/s41598-020-66388-w
J. Etienne, P. Joanne, C. Catelain, S. Riveron, AC. Bayer, J. Lafable, I. Punzon, S. Blot, O. Agbulut and JT Vilquin. Aldehyde dehydrogenases contribute to skeletal muscle homeostasis in healthy, aging and Duchenne muscular dystrophy patients. J Cachexia Sarcopenia Muscle. 2020 Aug;11(4):1047-1069. http://dx.doi.org/10.1002/jcsm.12557
I.Punzon, D. Mauduit, B. Holvoet, JL. Thibaud, P. De Fornel, CM Deroose, N. Blanchard-Gutton, JT. Vilquin, M. Sampaolesi, I. Barthelemy and S. Blot. In vivo Myoblasts Tracking Using The Sodium Iodide Symporter Gene Expression In Dogs. Mol Ther Methods Clin Dev. 2020 Jan 9;17:317-327. https://doi.org/10.1016/j.omtm.2019.12.011.
B. Ghaleh, I. Barthelemy, L. Sambin, A. Bizé, L. Hittinger, S. Blot, and J.B. SU . Alteration in left ventricular contractile function develops in puppies with Duchenne Muscular Dystrophy. J. Am. Soc. Echocardiogr. 2020 Jan;33(1):120-129.e1. Epub 2019 Oct 11. https://doi.org/10.1016/j.echo.2019.08.003.
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