A5073693872- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Congenital heart defects research
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Receptor Mechanisms and Signaling
- Neurotransmitter Receptor Influence on Behavior
- Ubiquitin and proteasome pathways
- Neuroscience and Neuropharmacology Research
University of Rome Tor Vergata
2023
University of Lausanne
2018-2023
Copy-number variants of the CYFIP1 gene in humans have been linked to autism spectrum disorders (ASD) and schizophrenia (SCZ), two neuropsychiatric characterized by defects brain connectivity. Here, we show that plays an important role functional connectivity callosal functions. We find Cyfip1-heterozygous mice reduced white matter architecture, similar phenotypes found patients with ASD, SCZ other disorders. Cyfip1-deficient also present decreased myelination axons, altered presynaptic...
Weighing alternatives during reward pursuit is a vital cognitive computation that, when disrupted by stress, yields aspects of neuropsychiatric disorders. To examine the neural mechanisms underlying these phenomena, we employed behavioral task in which mice were confronted and its omission (i.e., error). The experience error outcomes engaged neuronal dynamics within lateral habenula (LHb), subcortical structure that supports appetitive behaviors susceptible to stress. A high incidence errors...
Individuals with fragile X syndrome (FXS) are frequently diagnosed autism spectrum disorder (ASD), including increased risk for restricted and repetitive behaviors (RRBs). Consistent observations in humans, FXS model mice display distinct RRBs hyperactivity that consistent dysfunctional cortico-striatal circuits, an area relatively unexplored FXS. Using a multidisciplinary approach, we dissect the contribution of two populations striatal medium spiny neurons (SPNs) expression mice. Here,...
Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located 5'UTR gene, and methylation cytosines CpG islands upstream repeats. Here, we describe unrelated families with one FXS child another sibling presenting mild intellectual disability behavioural features evocative FXS. Genetic characterization undiagnosed revealed mosaicism both size levels different tissues analysed. This report shows...
Article28 March 2021Open Access Transparent process Absence of RNA-binding protein FXR2P prevents prolonged phase kainate-induced seizures Adrian C Lo orcid.org/0000-0001-9104-5949 Department Fundamental Neurosciences, University Lausanne, SwitzerlandThese authors contributed equally to this work Search for more papers by author Nicholas Rajan Neurosciences and Leuven Brain Institute, KU Leuven, BelgiumThese Denise Gastaldo orcid.org/0000-0003-2714-6272 Switzerland Ludovic Telley...
SUMMARY Copy-number variants of the CYFIP1 gene in humans have been linked to Autism and Schizophrenia, two neuropsychiatric disorders characterized by defects brain connectivity. regulates molecular events underlying post-synaptic functions. Here, we show that plays an important role functional connectivity callosal In particular, find Cyfip1 heterozygous mice reduced white matter architecture, typically relating phenotypes found patients with Autism, Schizophrenia other disorders....
Summary Individuals with fragile X syndrome (FXS) are frequently diagnosed autism spectrum disorder (ASD), including increased risk for restricted and repetitive behaviours (RRBs). Consistent observations in humans, FXS model mice display distinct RRBs hyperactivity that consistent dysfunctional cortico-striatal circuits, an area relatively unexplored FXS. Using a multidisciplinary approach, we dissected the contribution of two populations striatal medium spiny neurons (SPNs) expression...