Background on the genetics of ASD
Autism spectrum disorders are a heterogeneous group of pervasive neurodevelopmental disorders affecting approximately 1% of the population. The diagnosis of ASD is based on impairments in reciprocal social communication and stereotyped behaviors. Behind the […]
Phelan McDermid Syndrome: from mechanisms to treatments
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder with non-specific clinical features. The main symptoms are hypotonia, intellectual disability (ID), absent or delayed speech together with minor dysmorphic features. More than half of the patients […]
Private: 3D architecture and function of dendritic spines from human induced PSC-derived neurons
The study of the morphology of dendritic spines is crucial for understanding brain’s synaptic activity. My research focuses on the morphology of dendritic spines reconstructed in 3D, and on the functional analysis (calcium imaging […]
Private: Analyses of SHANK proteins using human IPSC-derived neurons
The aim of this project is to identify neuronal phenotypic alterations caused by mutations in SHANK3 genes using IPSC-derived neurons. SHANK proteins are scaffolding proteins at synapses and play important roles in synaptogenesis. The […]
The serotonin-NAS-melatonin pathway and susceptibility to ASD
Sleep difficulties are a major concern for families with ASD, but are often considered as an epiphenomenon, and therefore do not catch the attention of the medical and scientific community. In 2008, we reported […]
2015Three-dimensional Quantification of Dendritic Spines from Pyramidal Neurons Derived from Human Induced Pluripotent Stem Cells, J Vis Exp 2015 Oct;(104).
2015A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability, Eur. J. Hum. Genet. 2016 Jun;24(6):838-43.
2012Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway, J. Pineal Res. 2013 Jan;54(1):46-57.
2011Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders, J. Pineal Res. 2011 Nov;51(4):394-9.
2011Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability, BMC Med. Genet. 2011;12:17.
2010Production of soluble, active acetyl serotonin methyl transferase in Leishmania tarentolae, Protein Expr. Purif. 2011 Jan;75(1):114-8.
2010Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population, PLoS ONE 2010;5(7):e11495.
2009An investigation of ribosomal protein L10 gene in autism spectrum disorders, BMC Med. Genet. 2009;10:7.
2008Analysis of X chromosome inactivation in autism spectrum disorders, Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008 Sep;147B(6):830-5.
2006Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders, Nat. Genet. 2007 Jan;39(1):25-7.
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