GRM1, glutamate metabotropic receptor 1, 2911

N. diseases: 172; N. variants: 11
Disease: Cerebellar Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.030 GeneticVariation group BEFREE We report a six-year-old boy, born to inbred parents, with an early-onset cerebellar syndrome due to a homozygous autosomal-recessive GRM1 pathogenic variant. 31319223 2019
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.030 Biomarker group BEFREE Antibodies to Homer 3, a protein associated with mGluR1, have also been reported in two patients with cerebellar syndromes. 28306571 2017
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.030 Biomarker group BEFREE We show that endogenous β-III spectrin interacts with the metabotropic glutamate receptor 1α (mGluR1α) and that mice expressing mutant β-III spectrin have cerebellar dysfunction with altered mGluR1α localization at Purkinje cell dendritic spines, decreased mGluR1-mediated responses, and deficient mGluR1-mediated long-term potentiation. 25057192 2014