Associated Papers
Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.
Pindwarawala M et al.
Life Science Alliance, 2025
The mGluR6 ligand-binding domain, but not the C-terminal domain, is required for synaptic localization in retinal ON-bipolar cells.
Agosto MA et al.
The Journal of Biological Chemistry, 2021
34793838 (PubMed )
Supplement: mmc1.pdf
Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.
Liu HY et al.
Molecular Genetics & Genomic Medicine, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Structure of class C GPCR metabotropic glutamate receptor 5 transmembrane domain.
Doré AS et al.
Nature, 2014
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
Sergouniotis PI et al.
Acta Ophthalmologica, 2012
Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness.
Beqollari D et al.
Molecular Pharmacology, 2009
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
Dryja TP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
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