0000000000554172
AUTHOR
Binnaz Yalcin
WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy
Erreur dates et n° de conférence dans l'url https://hal.archives-ouvertes.fr/hal-02378786.; International audience
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia
Symposium issue: Human Cortex Developmentidentifiant wos: 000482426800014; International audience; The cerebral cortex is a highly organized structure responsible for advanced cognitive functions. Its development relies on a series of steps including neural progenitor cell proliferation, neuronal migration, axonal outgrowth and brain wiring. Disruption of these steps leads to cortical malformations, often associated with intellectual disability and epilepsy. We have generated a new resource to shed further light on subcortical heterotopia, a malformation characterized by abnormal neuronal position. We describe here the generation and characterization of a knockout (KO) mouse model for Eml1,…
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
International audience; KDM4B is a lysine-specific demethylase with a preferential activity on H3K9 tri/di-methylation (H3K9me3/2)-modified histones. H3K9 tri/di-demethylation is an important epigenetic mechanism responsible for silencing of gene expression in animal development and cancer. However, the role of KDM4B on human development is still poorly characterized. Through international data sharing, we gathered a cohort of nine individuals with mono-allelic de novo or inherited variants in KDM4B. All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had a…
Assessment of Adult Mouse Brain Neuroanatomical Phenotypes Using Quantitative and Precision Histology
Modelling human neurodevelopmental disorders is important in biomedical research since the brain cannot be easily accessed in humans. In this chapter, we describe a series of standardized procedures for the reliable analysis of neuroanatomical phenotypes (NAPs) of the adult mouse brain using quantitative 2D histological practices. Our goal is to provide the reader an experimental pipeline, ranging from experimental work through to data analysis, which can be performed in any academic research setting with or without access to a histology platform. Depending on the type of sections studied, parasagittal or coronal, the assessment of brain neuroanatomy is performed at stereotaxic sections, at…