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<i>GRID1/</i>GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

2022-05-17

Abstract excerpt

The ionotropic glutamate delta receptor GluD1, encoded by the GRID1 gene, is involved in synapse formation, function, and plasticity. GluD1 does not bind glutamate, but instead cerebellin and D-serine, which allow the formation of trans-synaptic bridges, and trigger transmembrane signaling. Despite wide expression in the nervous system, pathogenic GRID1 variants have not been characterized in humans so far. We rep...

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Literature Corpus work
10faf69f-ea29-518e-9f93-550b6132bb8e
DOI
10.1101/2022.05.16.22274994
Open publication

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<i>GRID1/</i>GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapsesDOI 10.1101/2022.05.16.22274994
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