A5036442960- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Pancreatic function and diabetes
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Adipose Tissue and Metabolism
- Cell Image Analysis Techniques
- Congenital heart defects research
- Neuroendocrine regulation and behavior
- Molecular Biology Techniques and Applications
- Neuroscience and Neuropharmacology Research
- Ion channel regulation and function
- Anesthesia and Neurotoxicity Research
- Neuroscience and Neural Engineering
- Lipid metabolism and disorders
- Animal testing and alternatives
- Olfactory and Sensory Function Studies
- Adenosine and Purinergic Signaling
- Peroxisome Proliferator-Activated Receptors
- Amino Acid Enzymes and Metabolism
- Metabolism and Genetic Disorders
- Kruppel-like factors research
- Genetic Syndromes and Imprinting
- Neurogenesis and neuroplasticity mechanisms
- Medical Imaging and Analysis
Centre National de la Recherche Scientifique
2017-2024
Institut NeuroMyoGène
2018-2024
Inserm
2020-2024
Université Claude Bernard Lyon 1
2020-2024
Immunologie et Neurogénétique Expérimentales et Moléculaires
2017-2019
Université d'Orléans
2018-2019
Abstract The cellular mechanisms underlying axonal morphogenesis are essential to the formation of functional neuronal networks. We previously identified autism-linked kinase NUAK1 as a central regulator axon branching through control mitochondria trafficking. However, (1) relationship between mitochondrial position, function and (2) downstream effectors whereby regulates remain unknown. Here, we report that recruitment synaptic boutons supports collateral branches stabilization rather than...
The cerebral cortex is composed of an exquisitely complex network interconnected neurons supporting the higher cognitive functions brain. Here, we provide a fully detailed, step-by-step protocol to perform in utero cortical electroporation plasmids, simple surgical procedure designed manipulate gene expression subset glutamatergic pyramidal vivo. This method has been used visualize defects neuronal migration, axon projections, terminal branching, or dendrite and synapse development. For...
Recently, numerous rare de novo mutations have been identified in patients diagnosed with autism spectrum disorders (ASD). However, despite the predicted loss-of-function nature of some these mutations, affected individuals are heterozygous carriers, which would suggest that most candidate genes haploinsufficient and/or lead to expression dominant-negative forms protein. Here, we tested this hypothesis ASD gene Nuak1 previously for its role development cortical connectivity. We report is...
Fragile X Syndrome (FXS) is caused by a deficiency in Mental Retardation Protein (FMRP) leading to global sensorial abnormalities, among which visual defects represent critical part. These are associated with cerebral neuron immaturity especially the primary cortex. However, we recently demonstrated that retinas of adult Fmr1-/y mice, FXS murine model, present molecular, cellular and functional alterations. no data currently available on evolution pattern such defects. As retinal stimulation...
Abstract DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case series 11 patients with neurodevelopmental phenotypes harbouring de novo monoallelic variants DDX17. All our had phenotype, whereby intellectual disability, delayed speech and language, motor delay predominated. We performed utero cortical electroporation brain developing mice, assessing axon complexity outgrowth electroporated...
Fragile X Syndrome (FXS), the most common inherited form of human intellectual disability (ID) associated with autistic-like behaviors, is characterized by dys-sensitivity to sensory stimuli, especially vision. In absence Mental Retardation Protein (FMRP), both retinal and cerebral structures visual pathway are impaired, suggesting that perception integration stimuli altered. However, behavioral consequences these defects remain unknown. this study, we used male Fmr1-/y mice further define...
ABSTRACT The precise regulation of the cellular mechanisms underlying axonal morphogenesis is essential to formation functional neuronal networks. We previously identified autism-candidate kinase NUAK1 as a central regulator axon branching in mouse cortical neurons through control mitochondria trafficking. How does local mitochondrial position or function regulate during development? Here, we characterized metabolic developing and report marked decorrelation between elongation collateral...
Transcardiac perfusion of fixative agent is generally recommended for quality preparations cerebral histology, ensuring rapid and deep penetration in the tissue to preserve most fragile brain structures. Despite being performed under anesthesia with proper analgesia, this procedure cumbersome experimenter raises ethical questions. Recently, alternative protocols have been proposed, based on prior sacrifice animal followed by an injection a into circulation. These so-called post-mortem should...
Behaviors are encoded by widespread neural circuits within the brain that change with age and experience. Immunodetection of immediate early gene c-Fos has been successfully used for decades to reveal active during specific tasks or conditions. Our objectives here were develop benchmark a workflow circumvents classical temporal spatial limitations associated quantification. We combined immunohistochemistry driven Cre-dependant tdTomato expression in TRAP2 mice, visualize perform direct...
Recent studies have demonstrated a new role for Klf10, Krüppel-like transcription factor, in skeletal muscle, specifically relating to mitochondrial function. Thus, it was of interest analyze additional tissues that are highly reliant on optimal function such as the cerebellum and decipher Klf10 functional structural properties this brain region. In vivo (magnetic resonance imaging localized spectroscopy, behavior analysis) vitro (histology, spectroscopy analysis, enzymatic activity)...
Abstract Introduction DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we identified 11 patients with neurodevelopmental phenotypes de novo monoallelic variants . All had a phenotype, whereby intellectual disability, delayed speech and language, motor delay predominated. Materials methods We performed utero cortical electroporation brain developing mice, assessing axon complexity outgrowth electroporated...