Genetic Variant in <i>GRM1</i> Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability

Genetic Variant in <i>GRM1</i> Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability

Metabotropic glutamate receptor 1 (mGluR1) plays a crucial role in slow excitatory postsynaptic conductance, synapse formation, synaptic plasticity, and motor control. The <i>GRM1</i> gene is expressed mainly in the brain, with the highest expression in the cerebellum. Mutations in the &...

Full description

Bibliographic Details
Main Authors: Maria S. Protasova, Tatiana V. Andreeva, Sergey A. Klyushnikov, Sergey N. Illarioshkin, Evgeny I. Rogaev
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
cerebellar ataxia
cerebellar hypoplasia
early-onset ataxia
metabotropic glutamate receptor 1
<i>GRM1</i>
mGluR1
Online Access:https://www.mdpi.com/1422-0067/24/2/1551

Internet

https://www.mdpi.com/1422-0067/24/2/1551

Similar Items