A5006759989- Genetics and Neurodevelopmental Disorders
- Tryptophan and brain disorders
- RNA modifications and cancer
- Gut microbiota and health
- RNA Research and Splicing
- Metabolomics and Mass Spectrometry Studies
- Stress Responses and Cortisol
- Autism Spectrum Disorder Research
- Schizophrenia research and treatment
- Neuroendocrine regulation and behavior
- Diet and metabolism studies
- Ubiquitin and proteasome pathways
- Health, Environment, Cognitive Aging
- Bipolar Disorder and Treatment
- Congenital heart defects research
- Sleep and related disorders
- Genomics and Phylogenetic Studies
- Adolescent and Pediatric Healthcare
- RNA regulation and disease
- Reproductive System and Pregnancy
- Mental Health Research Topics
- Mitochondrial Function and Pathology
- Adenosine and Purinergic Signaling
- RNA Interference and Gene Delivery
- Endoplasmic Reticulum Stress and Disease
Université Côte d'Azur
2013-2025
Centre National de la Recherche Scientifique
2015-2025
Institut de Pharmacologie Moléculaire et Cellulaire
2016-2025
Inserm
2015-2025
INESC TEC
2024
Fondation FondaMental
2021-2023
Hôpital Albert-Chenevier
2023
Observatoire de la Côte d’Azur
2019-2020
Laboratoire de Microbiologie et Génétique Moléculaires
2009
Hôpital Saint-François d'Assise
2004-2007
The rhomboid family of polytopic membrane proteins shows a level evolutionary conservation unique among proteins. They are present in nearly all the sequenced genomes archaea, bacteria and eukaryotes, with exception several species small genomes. On basis experimental studies developmental regulator from Drosophila AarA protein bacterium Providencia stuartii, rhomboids thought to be intramembrane serine proteases whose signaling function is conserved eukaryotes prokaryotes.Phylogenetic tree...
Fragile X syndrome, the most frequent form of inherited mental retardation, is due to absence Mental Retardation Protein (FMRP), an RNA-binding protein involved in several steps RNA metabolism. To date, two motifs have been found mediate FMRP/RNA interaction, G-quartet and "kissing complex," which both induce translational repression presence FMRP. We show here a new role for FMRP as positive modulator translation. specifically binds Superoxide Dismutase 1 (Sod1) mRNA with high affinity...
Fragile X syndrome is caused by the absence of fragile mental retardation protein (FMRP). This RNA-binding widely expressed in human and mouse tissues, it particularly abundant brain because its high expression neurons, where localizes cell body granules throughout dendrites. Although FMRP thought to regulate trafficking repressed mRNA complexes influence local synthesis synapses, not known whether has additional functions control translation body. Here, we have used recently developed...
Local translation at the synapse plays key roles in neuron development and activity-dependent synaptic plasticity. mRNAs are translocated from neuronal soma to distant synapses as compacted ribonucleoparticles referred RNA granules. These contain many RNA-binding proteins, including Fragile X Mental Retardation Protein (FMRP), absence of which results Syndrome, most common inherited form intellectual disability leading genetic cause autism. Using FMRP a tracer, we purified specific...
Autism spectrum disorders (ASD) are associated with dysregulation of the microbiota-gut-brain axis, changes in microbiota composition as well fecal, serum, and urine levels microbial metabolites. Yet a causal relationship between axis ASD remains to be demonstrated. Here, we hypothesized that metabolite p-Cresol, which is more abundant patients compared neurotypical individuals, could induce ASD-like behavior mice.Mice exposed p-Cresol for 4 weeks drinking water presented social deficits,...
Secreted phospholipase A2-IIA (sPLA2-IIA) hydrolyzes phospholipids to liberate lysophospholipids and fatty acids. Given its poor activity toward eukaryotic cell membranes, role in the generation of proinflammatory lipid mediators is unclear. Conversely, sPLA2-IIA efficiently bacterial membranes. Here, we show that affects immune system by acting on intestinal microbial flora. Using mice overexpressing transgene-driven human sPLA2-IIA, found microbiota was critical for both induction an...
Fragile X mental retardation 1 protein (FMRP) is an RNA-binding whose absence results in the fragile syndrome, most common inherited form of retardation. FMRP contains multiple domains with apparently differential affinity to mRNA and interacts also partners present ribonucleoprotein complexes called RNA granules. In neurons, these particles travel along dendrites axons translocate mRNAs specific destinations spines growth cones, where local synthesis neuro-specific proteins taking place....
In mammalian cells, fragile X mental retardation protein (FMRP) has been reported to be part of a microRNA (miRNA)-containing effector ribonucleoprotien (RNP) complex believed mediate translational control specific mRNAs. Here, using recombinant proteins, we demonstrate that human FMRP can act as miRNA acceptor for the ribonuclease Dicer and facilitate assembly miRNAs on target RNA sequences. The assembler property was abrogated upon deletion its single-stranded (ss) binding K-homology...
Fragile X syndrome (FXS) is the first cause of inherited intellectual disability, due to silencing X-linked Mental Retardation 1 gene encoding RNA-binding protein FMRP. While extensive studies have focused on cellular and molecular basis FXS, neither human patients nor mouse model FXS—the Fmr1 -null mouse—have been profiled systematically at metabolic neurochemical level provide a complementary perspective current, yet scattered, knowledge FXS. Using proton high-resolution magic angle...
While FMR1 is silenced in Fragile X syndrome (FXS) patients carrying the full mutation, its expression elevated (2–8 fold) premutated individuals. These people may develop X-associated Tremor/Ataxia (FXTAS), a late onset neurodegenerative disorder characterized by ataxia and parkinsonism. In addition, premutation can be affected set of neurological behavioral disorders during young age. Problems memory have been detected these as well mouse models for FXTAS. To date little known concerning...
The Fragile X-Related 1 gene (FXR1) is a paralog of the X Mental Retardation (FMR1), whose absence causes syndrome, most common form inherited intellectual disability. FXR1P plays an important role in normal muscle development, and its muscular abnormalities mice, frog, zebrafish. Seven alternatively spliced FXR1 transcripts have been identified two them are skeletal muscle-specific. A reduction these isoforms found myoblasts from Facio-Scapulo Humeral Dystrophy (FSHD) patients. RNA–binding...
Abstract Early response to first-line antipsychotic treatments is strongly associated with positive long-term symptomatic and functional outcome in psychosis. Unfortunately, attempts identify reliable predictors of treatment first-episode psychosis (FEP) patients have not yet been successful. One reason for this could be that FEP are highly heterogeneous terms symptom expression underlying disease biological mechanisms, thereby impeding the identification one-size-fits-all response. We used...
FRAXE is a form of mild to moderate mental retardation due the silencing FMR2 gene. The cellular function protein presently unknown. By analogy with its homologue AF4, was supposed have role in transcriptional regulation, but robust evidences supporting this hypothesis are lacking. We observed that co-localizes splicing factor SC35 nuclear speckles, regions where factors concentrated, assembled and modified. Similarly what reported for factors, blocking or transcription leads accumulation...
Sorting of mRNAs in neuronal dendrites relies upon inducible transport mechanisms whose molecular bases are poorly understood. We investigated here the mechanism dendritic targeting rat Brain-derived neurotrophic factor (BDNF) as a paradigmatic example. BDNF encodes multiple with either short or long 3'UTR, both hypothesized to harbor signals. However, sorting two 3'UTR isoforms controversial. found that localization was induced by depolarization and NT3 vitro seizures vivo required CPEB-1,...
The Fragile X Mental Retardation Protein (FMRP) is a widely expressed RNA-binding protein involved in translation regulation. Since the absence of FMRP leads to Syndrome (FXS) and autism, has been extensively studied brain. functions peripheral organs on metabolic homeostasis remain elusive; therefore, we sought investigate systemic consequences its absence. Using metabolomics, vivo phenotyping Fmr1-KO FXS mouse model vitro approaches, show that induced shift towards enhanced glucose...
The fragile X syndrome, the leading cause of inherited mental retardation, is due to inactivation retardation 1 gene (FMR1) and subsequent absence its product FMRP. This RNA-binding protein thought control mRNA translation in cells leads alteration synthesis. In neurons, FMRP repress specific mRNAs during their transport as silent ribonucleoparticles (mRNPs) from cell body distant synapses which are sites local synthesis neuro-specific proteins. mechanism by sorts out different targets might...
Fragile X syndrome, the most frequent form of inherited mental retardation, is due to absence expression Mental Retardation Protein (FMRP), an RNA binding protein with high specificity for G-quartet structure. FMRP involved in several steps mRNA metabolism: nucleocytoplasmic trafficking, translational control and transport along dendrites neurons. Related 1 (FXR1P), a homologue interactor FMRP, has been postulated have function similar leading hypothesis that it can compensate patients. Here...
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and a leading cause autism. FXS due to silencing Mental Retardation Protein (FMRP), an RNA binding protein mainly involved in translational control, dendritic spine morphology synaptic plasticity. Despite extensive studies, there currently no cure for FXS. With purpose decipher initial molecular events this pathology, we developed stem-cell-based disease model by knocking-down expression Fmr1 mouse...