Discover Community Create You

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

Article

Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability.

International journal of molecular sciences - 12 Jan 2023

Protasova Maria S, Andreeva Tatiana V, Klyushnikov Sergey A, Illarioshkin Sergey N, Rogaev Evgeny I

Abstract excerpt

Metabotropic glutamate receptor 1 (mGluR1) plays a crucial role in slow excitatory postsynaptic conductance, synapse formation, synaptic plasticity, and motor control. The GRM1 gene is expressed mainly in the brain, with the highest expression in the cerebellum. Mutations in the GRM1 gene have previously been known to cause autosomal recessive and autosomal dominant spinocerebellar ataxias. In this study,...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Ataxia
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Receptors, Metabotropic Glutamate

Share to Spinocerebellar Degenerations

Source

Open in PubMed Open full text

Identifiers

PMID: 36675067
DOI: 10.3390/ijms24021551
PMCID: PMC9865416

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability.PMID 36675067Read ↗

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.Semantic proximity Read ↗

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.Semantic proximity Read ↗

The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.Semantic proximity Read ↗

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.Semantic proximity Read ↗

GRM7 gene mutations and consequences for neurodevelopment.Semantic proximity Read ↗

Enhanced mGluR1 function causes motor deficits and region-specific Purkinje cell dysfunctionSemantic proximity Read ↗

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.Semantic proximity Read ↗

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Semantic proximity Read ↗

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity.Semantic proximity Read ↗

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.Semantic proximity Read ↗

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.Semantic proximity Read ↗

Milestones in genetics of cerebellar ataxias.Semantic proximity Read ↗

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