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

doi:10.1038/s41380-024-02469-w

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

Molecular psychiatry - 1 Apr 2024

Ung Dévina C, Pietrancosta Nicolas, Badillo Elena Baz, Raux Brigitt, Tapken Daniel, Zlatanovic Andjela, Doridant Adrien, Pode-Shakked Ben, Raas-Rothschild Annick, Elpeleg Orly, Abu-Libdeh Bassam, Hamed Nasrin, Papon Marie-Amélie, Marouillat Sylviane, Thépault Rose-Anne, Stevanin Giovanni, Elegheert Jonathan, Letellier Mathieu, Hollmann Michael, Lambolez Bertrand, Tricoire Ludovic, Toutain Annick, Hepp Régine, Laumonnier Frédéric

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Neurons

Share to Paraplegia

Share to Receptor, Metabotropic Glutamate 5

Share to Receptors, Glutamate

Share to Receptors, Metabotropic Glutamate

Share to Synapses

Source

Open in PubMed Open full text

Identifiers

PMID: 38418578
DOI: 10.1038/s41380-024-02469-w
PMCID: PMC11176079

Genes

GRID1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.PMID 38418578Read ↗

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

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.Semantic proximity Read ↗

Functional Analysis of Human GRIN2A Mutations Associated with Schizophrenia and Neurodevelopmental Disorders Reveals Distinct Pathological MechanismSemantic proximity Read ↗

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.Semantic proximity Read ↗

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical featuresSemantic proximity Read ↗

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanismsSemantic proximity Read ↗

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.Semantic proximity Read ↗

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.Semantic proximity Read ↗

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.Semantic proximity Read ↗

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathySemantic proximity Read ↗

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.Semantic proximity Read ↗

Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.