Aude-Marie Lepagnol-Bestel

DYRK1A up-regulation specifically impairs a presynaptic form of long-term potentiation

This study shows that increased DYRK1A levels specifically impair presynaptic long-term potentiation in a mouse model, suggesting a role in memory precision.

AUTS2 expression within mammalian lineage: a predictor of neural networks involved in Autism Spectrum Disorders

The paper investigates AUTS2 expression across mammalian species to identify phenotypes linked to Autism Spectrum Disorders.

AUTS2 gene dosage affects synaptic AMPA receptors via a local dendritic spine AUTS2-TTC3-AKT-mTORC1 signaling dysfunction

This study shows that AUTS2 gene dosage affects synaptic AMPA receptors through the AUTS2-TTC3-AKT-mTORC1 pathway, leading to behavioral and cognitive impairments in mice.

BIN1 genetic risk factor for Alzheimer is sufficient to induce early structural tract alterations in entorhinal cortex-dentate gyrus pathway and related hippocampal multi-scale impairments

This paper shows that BIN1 overexpression in mice leads to early structural and functional impairments in hippocampal pathways associated with Alzheimer's disease, independent of A-beta changes.

Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease

The paper identifies protein-protein interactions on Chr21 linked to intellectual disabilities, autism, and Alzheimer's by analyzing yeast two-hybrid screens and synaptic localization.

Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genes

The paper identifies a multi-hit genomic architecture for ASD in consanguineous families, involving FEZF2 deletions and mutations in high-risk genes.