Topic: GluD1

ePoster: 2 ePosters

The GRID1/GLUD1 homozygous variant p.Arg161His linked to intellectual disability and spastic paraplegia impairs excitatory synaptic transmission in the hippocampus

Weixuan Xue, Suzy Markossian, Frédéric Flamant, Bertrand Lambolez, Régine Hepp, Ludovic Tricoire · FENS Forum 2024

The ionotropic glutamate delta receptor GluD1, encoded by the GRID1 gene, is widely expressed in the nervous system and is involved in the formation, function, and plasticity of synapses. GluD1 does not bind glutamate, but instead cerebellin and D-serine, which allows the formation of trans-synaptic bridges, and triggers transmembrane signaling. We recently reported a homozygous missense variants of GRID1, p.Arg161His, associated with combined intellectual disability, spastic paraplegia and glaucoma. In vitro studies revealed that this mutation hampers metabotropic glutamate receptor mGlu1/5 s

ePoster · Neuroscience

Synergistic, long-term effects of glutamate dehydrogenase 1 deficiency and mild stress on cognitive function and mPFC gene and miRNA expression

‪Kfir Asraf‬‏, Hiba Zaidan, Inna Gaisler-Salomon · FENS Forum 2024

To investigate gene x environment interactions in a mouse model of cognitive deficits, we examined the impact of mild stress in mice genetically modified to express deficient levels of glutamate dehydrogenase 1 (GDH). GDH (gene name: Glud1) plays a central role in glutamate metabolism and is downregulated in the hippocampus of patients with schizophrenia. Mice with a full deletion of Glud1 in CNS (C-Glud1-/- mice) previously showed abnormally high glutamate levels and a wide range of behavioral deficits. Here, we exposed heterozygous C-Glud1+/- mice and their C-Cre+ controls to mild stress in

ePoster · Neuroscience