ArticleJCI insight2021
A GRM7 mutation associated with developmental delay reduces mGlu7 expression and produces neurological phenotypes.
Article in JCI insight, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- From the Cosmos to the Cell: The Central Role of Iron in the Chemistry and Evolution of Life.International journal of molecular sciences · 2026Review
- A Novel Intracellular Domain Missense Variant inMolecular syndromology · 2026Article
- Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.Neuroscience · 2026Article
- Negative allosteric modulation of mGlu7 disrupts fear memory reconsolidation and glutamatergic signaling in rat and human brain tissue.Molecular psychiatry · 2026Article
- Overexpression of mGluMolecular neurobiology · 2025Article
- Profiling the Impact of mGluACS chemical neuroscience · 2025Article
- Article
- Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and disease.Biology of sport · 2025Article
- Pleiotropic Effects ofBiomolecules · 2025Review
- Spatial Cell Atlas of Lateral Septum Reveals Changes Underlying Anxiety and Fear Learning Deficits in Mice with Abnormal Immunity.International journal of biological sciences · 2025Article
- GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients.Brain, behavior, & immunity - health · 2024Review
- Therapeutic Potential for Metabotropic Glutamate Receptor 7 Modulators in Cognitive Disorders.Molecular pharmacology · 2024Review
- Presynaptic Kainate Receptors onto Somatostatin Interneurons Are Recruited by Activity throughout Development and Contribute to Cortical Sensory Adaptation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Differential Activity of Orthosteric Agonists and Allosteric Modulators at Metabotropic Glutamate Receptor 7.Molecular pharmacology · 2023Article
- Discovery ofACS medicinal chemistry letters · 2023Article
- GRM7 gene mutations and consequences for neurodevelopment.Pharmacology, biochemistry, and behavior · 2023Review
- Persistent challenges in the development of an mGluBioorganic & medicinal chemistry letters · 2023Article
- Sex differences and hormonal regulation of metabotropic glutamate receptor synaptic plasticity.International review of neurobiology · 2023Review
- G-alpha interacting protein interacting protein, C terminus 1 regulates epileptogenesis by increasing the expression of metabotropic glutamate receptor 7.CNS neuroscience & therapeutics · 2022Article
- A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity.Orphanet journal of rare diseases · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
The metabotropic glutamate receptor 7 (mGlu7) is a G protein-coupled receptor that has been recently linked to neurodevelopmental disorders. This association is supported by the identification of GRM7 variants in patients with autism spectrum disorder, attention deficit hyperactivity disorder, and severe developmental delay. One GRM7 mutation previously reported in 2 patients results in a single amino acid change, I154T, within the mGlu7 ligand-binding domain. Here, we report 2 new patients with this mutation who present with severe developmental delay and epilepsy. Functional studies of the mGlu7-I154T mutant reveal that this substitution resulted in significant loss of mGlu7 protein expression in HEK293A cells and in mice. We show that this occurred posttranscriptionally at the level of protein expression and trafficking. Similar to mGlu7-global KO mice, mGlu7-I154T animals exhibited reduced motor coordination, deficits in contextual fear learning, and seizures. This provides functional evidence that a disease-associated mutation affecting the mGlu7 receptor was sufficient to cause neurological dysfunction in mice and further validates GRM7 as a disease-causing gene in the human population.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.