Personnel

Christel Gentil

Research Associate

Christel Gentil
EmailORCID

Titres

Research Associate AIM

Expertises

  • Neuromuscular Diseases
  • Biotherapies
  • Cellular and Molecular Biology
  • Biochemistry

Présentation

My professional career began in 2003, after obtaining a 3rd year specialization and then a diploma from the EPHE, in the group of France Piétri-Rouxel in the department of infectious diseases at the Cochin Institute. Thereafter, the group joined Luis Garcia's team at Genethon, where we explored the role of the alpha 1S subunit of DHPR (key protein of the excitation-contraction coupling) in the maintenance of muscle mass. These studies have continued at the Centre of Research for Myology and the acquisition of several skills in molecular and cellular biology and biochemistry allowed me to obtain a Master 2 degree by validating the acquired experience (VAE). Then, in a perspective of clinical trials to treat Duchenne muscular dystrophy, I participated in 2 studies showing that the severity of the dystrophic phenotype correlated with the nitrosylation of RyR1 by the nNOS and iNOS proteins. My involvement in these projects, from conception to realization, allowed me to undertake again a VAE process to obtain a PhD that I validated in 2018. After the publication of our study that demonstrated the correlation between the expression of the β subunit of DHPR and the GDF5 protein with age-related muscle mass loss, I started a new project to study a potential beneficial effect of GDF5 in dystrophic muscle.

Principales publications

  1. Taglietti, V, Kefi, K, Bronisz-Budzyńska, I, Mirciloglu, B, Rodrigues, M, Cardone, N et al.. Duchenne muscular dystrophy trajectory in R-DMDdel52 preclinical rat model identifies COMP as biomarker of fibrosis. Acta Neuropathol Commun. 2022;10 (1):60. doi: 10.1186/s40478-022-01355-2. PubMed PMID:35468843 PubMed Central PMC9036715.
  2. Jaque-Fernández, F, Jorquera, G, Troc-Gajardo, J, Pietri-Rouxel, F, Gentil, C, Buvinic, S et al.. Pannexin-1 and CaV1.1 show reciprocal interaction during excitation-contraction and excitation-transcription coupling in skeletal muscle. J Gen Physiol. 2021;153 (12):. doi: 10.1085/jgp.202012635. PubMed PMID:34636893 PubMed Central PMC8515650.
  3. Traoré, M, Gentil, C, Benedetto, C, Hogrel, JY, De la Grange, P, Cadot, B et al.. An embryonic CaVβ1 isoform promotes muscle mass maintenance via GDF5 signaling in adult mouse. Sci Transl Med. 2019;11 (517):. doi: 10.1126/scitranslmed.aaw1131. PubMed PMID:31694926 .
  4. Franck, A, Lainé, J, Moulay, G, Lemerle, E, Trichet, M, Gentil, C et al.. Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle. Mol Biol Cell. 2019;30 (5):579-590. doi: 10.1091/mbc.E18-11-0718. PubMed PMID:30601711 PubMed Central PMC6589689.
  5. Guilbaud, M, Gentil, C, Peccate, C, Gargaun, E, Holtzmann, I, Gruszczynski, C et al.. miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context. Skelet Muscle. 2018;8 (1):15. doi: 10.1186/s13395-018-0161-2. PubMed PMID:29703249 PubMed Central PMC5924477.
  6. Gentil, C, Le Guiner, C, Falcone, S, Hogrel, JY, Peccate, C, Lorain, S et al.. Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy. Hum Gene Ther. 2016;27 (9):712-26. doi: 10.1089/hum.2016.041. PubMed PMID:27279388 .
  7. Vassilopoulos, S, Gentil, C, Lainé, J, Buclez, PO, Franck, A, Ferry, A et al.. Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization. J Cell Biol. 2014;205 (3):377-93. doi: 10.1083/jcb.201309096. PubMed PMID:24798732 PubMed Central PMC4018784.
  8. Gentil, C, Leturcq, F, Ben Yaou, R, Kaplan, JC, Laforet, P, Pénisson-Besnier, I et al.. Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation. Hum Mol Genet. 2012;21 (15):3449-60. doi: 10.1093/hmg/dds176. PubMed PMID:22589245 .
  9. Piétri-Rouxel, F, Gentil, C, Vassilopoulos, S, Baas, D, Mouisel, E, Ferry, A et al.. DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis. EMBO J. 2010;29 (3):643-54. doi: 10.1038/emboj.2009.366. PubMed PMID:20033060 PubMed Central PMC2830706.
  10. Gentil, C, Le Jan, S, Philippe, J, Leibowitch, J, Sonigo, P, Germain, S et al.. Is oxygen a key factor in the lipodystrophy phenotype?. Lipids Health Dis. 2006;5 :27. doi: 10.1186/1476-511X-5-27. PubMed PMID:17049073 PubMed Central PMC1624831.
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