English
Accueil > Nous rejoindre > Offres de stages
Accéder au plan complet du siteTherapeutic development for RyR1-related myopathies using a mouse model?
Objectifs
The purpose of this work is to characterize the effect of a therapeutic chemical (the N acetyl Cysteine) in vivo as well as in vitro in order to offer therapeutic perspectives for congenital myopathies.
Résumé
Congenital myopathies are characterized by impairment of skeletal muscles calcium release leading to muscle weakness. An inducible and muscle-specific mouse model of congenital myopathy has been established in our laboratory to better understand the physio-pathology and especially the importance of the Ryanodine receptor-1 (RyR1) in these myopathies. RyR1 is the calcium channel responsible for the release of calcium from the sarcoplasmic reticulum to the cytosol, and so the muscle contraction. Our previous results show that our mouse model presents close similarities with human disease, characterized by loss of muscle strength and weight, and constitutes so a good model to test therapeutic approaches. The purpose of this work is to study ”in vivo” as well as “in vitro” the effect of a therapeutic chemical (the N Acetyl Cysteine) in order to offer therapeutic perspectives for congenital myopathies.
Méthodes
In vivo animal experimentation, primary muscle cell culture, immuno-fluorescence, western blot, immunoprecipitation, biochemical assays, functional assay (calcium imaging).
Références
- ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero. Acta Neuropathol Commun. 2019; 7: 3. Published online 2019 Jan 5. doi: 10.1186/s40478-018-0655-5.
- Dynamics of triadin, a muscle-specific triad protein, within sarcoplasmic reticulum subdomains Muriel Sébastien, Perrine Aubin, Jacques Brocard, Julie Brocard, Isabelle Marty, Julien Fauré. Mol Biol Cell. 2020 Feb 15; 31(4): 261–272. doi: 10.1091/mbc.E19-07-0399.
- Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein. Cacheux M, Blum A, Sébastien M, Wozny AS, Brocard J, Mamchaoui K, Mouly V, Roux-Buisson N, Rendu J, Monnier N, Krivosic R, Allen P, Lacour A, Lunardi J, Fauré J, Marty I. J Neuromuscul Dis. 2015 Nov 20;2(4):421-432.
Domaines d'expertise requis
Interest in cell biology and in deciphering physio-pathological mechanisms.
Contacts
Téléchargement(s)
- GIN_offre-stage-M2_2020-2021_APetiot_20200608.pdf (PDF, 438 Ko)
Venir au GIN
Contacts
Pour les stages (master, licence, 3ème), envoyer directement un email au responsable de l'équipe que vous avez identifiée.
Pour une candidature spontanée pour un emploi et uniquement pour cela, envoyez un email à gincomm[at]univ-grenoble-alpes.fr ou utilisez le formulaire de contact.
