ePoster · Neuroscience
Sara Sebastiani, Lotte Wekking, Jean C. Corbally, Anouk Klein Kranenbarg, Maggie M.K. Wong, Jet Coenen-van der Spek, Daan F.B. Roelofs, Simon E. Fisher, Tjitske Kleefstra, Sharon M. Kolk · FENS Forum 2024
Neurodevelopmental disorders (NDDs) are a heterogeneous group of syndromes that typically manifest early in development. NDDs are characterized by intellectual disability/developmental delay (ID/DD) and resulting cognitive deficits. In our studies, we focus on Witteveen-Kolk Syndrome (WitKoS) characterized by mild ID, growth and feeding difficulties, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) and some types of language developmental delay (Balasubramanian et al., 2021). This syndrome is caused by heterozygous loss-of-function mutations in SIN3A, a gene t
ePoster · Neuroscience
Lucie Salvador-Prince, Dorine Thobois, Jason Durand, Véronique Perrier, Karine Loulier · FENS Forum 2024
Autism Spectrum Disorders (ASD) is a multifactorial neurodevelopmental pathology, resulting from a combination of genetic and environmental factors. However, the contribution of each of these two components to the onset and/or the evolution of ASD remains undetermined. Hence the aim of our research project is to evaluate the impact of an in utero exposure to a cocktail of fungicide residues at a European regulatory dose on the brain development of a well-established ASD model, the CNTNAP2 gene-deficient mouse. In order to determine whether the chronic exposure to fungicide might increase the s
ePoster · Neuroscience
Ana Villalba Requena, Robert Beattie, Florian M. Pauler, Carmen Streicher, Thomas Krausgruber, Martin Senekowitsch, Matthias Farlik, Christoph Bock, Thomas Rülicke, Simon Hippenmeyer · FENS Forum 2024
The cerebral cortex is composed of an extraordinary number of neuronal and glial cell types assembling into cortical circuits that account for cognitive abilities. Remarkable heterogeneity in the spectrum of cortical cell types has been described on the basis of global transcriptome analysis. How cell-type diversity is generated by radial glia progenitor (RGP) cells during development is however still poorly understood. Here we focus on the Rptor/mTORC1 signaling pathway and its role in RGP cell lineage progression and cortical neurogenesis. By using Mosaic Analysis with Double Markers (MADM)
ePoster · Neuroscience
Michael Lattke, Jon Conesa, Mickey Hughes, Vincenzo De Paola · FENS Forum 2024
Down syndrome is a common neurodevelopmental condition and major genetic cause of intellectual disability. Although trisomy of chromosome 21 is long known as underlying cause, it is not well understood how the increased dosage of over 300 genes on chromosome 21 perturbs transcriptional and epigenetic programmes underlying neural differentiation, and effective therapies are lacking. Mouse models have suggested potential underlying mechanisms, but it is unclear to what extent these are recapitulated in the human brain.Here, we use single cell transcriptomics and epigenomics to generate an atlas