Françoise Muscatelli

Head of the team : Neurodevelopment, genetic and epigenetic: investigation of Prader-Willi syndrome. Research Director at the”Institute of Neurobiology of Mediterranée”, INSERM, Marseille, FRANCE.

For several years, my team, using mouse models genetically modified, studies the functional role of two candidate genes involved in PWS: the NECDIN and MAGEL2 genes; both genes belong to the same family of MAGE genes and play a role in neurodvelopment. Our project focused on the physiological and physiopathological role of these genes, deciphering their cellular function and imprinted regulation, and investigating therapeutical approaches in these mouse mutants.


Human genetics, genomic imprinting, Prader-Willi syndrome, neurodevelopment, MAGE gene family, mouse models genetically modified, molecular biology, cellular biology, in vivo investigations.

Main publications on peer reviewed national or international journals between 2010-2015 

  • Valery Grinevich1*†, Michel G. Desarménien2†, Bice Chini3†, Maithé Tauber4,5† and Françoise Muscatelli6,7*† Ontogenesis of oxytocin pathways in the mammalian brain: late maturation and psychosocial disorders. Front. Neuroanat., 20 January 2015 | doi: 10.3389/fnana.2014.00164
  • Meziane, H., Schaller, F., Bauer, S., Villard, C., Matarazzo, V., Riet, F., Guillon, G., Lafitte, D., Desarmenien, M.G., Tauber, M.,et Muscatelli, F. (2014). An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2, a Gene Involved in Prader-Willi Syndrome and Autism. Biol Psychiatry. 2014 Nov 20. pii: S0006-3223(14) 00887-7. doi: 10.1016/j.
  • Tauber, M., Diene, G., Mimoun, E., Cabal-Berthoumieu, S., Mantoulan, C., Molinas, C., Muscatelli, F., and Salles, J.P. (2014). Prader-Willi syndrome as a model of human hyperphagia. Frontiers of hormone research 42, 93-106.
  •  Rieusset, A., Schaller, F., Unmehopa, U., Matarazzo, V., Watrin, F., Linke, M., Georges, B., Bischof, …et Muscatelli, F.(2013). Stochastic Loss of Silencing of the Imprinted Ndn/NDN Allele, in a Mouse Model and Humans with Prader-Willi Syndrome, Has Functional Consequences. PLoS Genet 9, e1003752.
  • Matarazzo, V., and Muscatelli, F. (2013). Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus: A whisper with functional consequences. Rare diseases 1, e27228.
  • Valéry Matarazzo, Fabienne Schaller, Emmanuelle Nédélec, Alexandre Benani, Luc Pénicaud, Françoise Muscatelli, Emmanuel Moyse, Sylvian Bauer. Inactivation of Socs3 in the Hypothalamus Enhances the Hindbrain Response to Endogenous Satiety Signals via Oxytocin Signaling. Journal of Neuroscience, 2012. 32, 17097-17107.
  • Anat Lavi-Itzkovitz, Marianna Tcherpakov, Zehava Levy, Shalev Itzkovitz, Francoise Muscatelli and Mike Fainzilber.. Functional Consequences of Necdin Nucleocytoplasmic Localization. PLoS One 7,  2012.  e33786.
  • Julianne Aebischer, Rachel Sturny, David Andrieu, Anne Rieusset, Sandrine Geib, Cedric Raoul and Françoise Muscatelli. Necdin protects motoneurons from TNFR1-dependent developmental cell death. PLos One. 2011. Volume: 6 Issue: 9 Article Number: e23764
  • Schaller, F., Watrin, F., Sturny, R., Massacrier, A., Szepetowski, P., Muscatelli, F. A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mice deficient for the Prader-Willi Magel2 gene. Hum. Mol. Genet. 2010. 19(24), 4895-905.


  • Anne Ferguson-Smith - UK
  • Gavin Kelsey - UK
  • Anthony Isles - UK
  • Valter Tucci - ITA

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