metabotropic glutamate receptor 6

01/01/2012 - "Besides expression in the inner nuclear layer and distinct regions in the brain, both mglur6 paralogs are expressed in ganglion cells of the retina, an expression pattern which can also be observed in the downstream effector molecules gnaoa and gnaob. "
01/01/2023 - "However, further investigation of the transgene LRIT3 transcript expression by RNA in situ hybridization (RNA-ISH) revealed off-target expression in non-BCs including the photoreceptors, inner nuclear, and ganglion cell layers, despite the use of a mutant AAVK9#4 capsid and an improved mGluR6 promoter designed to specifically transduce and promote expression in ON-BCs. "
07/01/2007 - "After photoreceptor loss in rodent models of RP, bipolar cells lose mGluR6 and iGluR glutamate-activated currents, whereas amacrine and ganglion cells retain iGluR-mediated responsivity. "
01/01/2004 - "Expression levels of the ganglion-cell-specific transcripts Thy-1 and neurofilament and of the AII-amacrine-specific transcript parvalbumin decreased after ischemia-reperfusion, whereas the ON bipolar cell transcripts mGluR6 and PKCalpha did not show ischemia-induced changes. "

06/01/1997 - "This study should provide the genetic basis for not only better understanding the molecular mechanism underlying a tissue-specific expression of the mGluR6 gene but also exploring a potential defect in human mGluR6 in a certain inherited eye disease."

01/01/2021 - "Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness."
01/01/2017 - "The Grm6nob8 mouse extends the Grm6 allelic series and will be useful for elucidating the role of mGluR6 in DBC signal transduction and in human disease.NEW & NOTEWORTHY This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a distinct phenotype from that seen in other Grm6 mouse models."
07/01/2010 - "As a component of the mGluR6 signal transduction pathway, mutations in TRPM1 would be expected to cause congenital stationary night blindness (CSNB), and several such mutations have already been identified in CSNB families. "
11/01/2009 - "Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness."
05/01/2006 - "Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6."

09/01/2012 - "In humans, mutations in the gene encoding mGluR6 cause autosomal recessive night blindness. "
06/01/2009 - "mGluR6 is also the causal gene for a form of congenital night blindness. "
03/29/2005 - "Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6."
08/01/2007 - "Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking."

01/01/2020 - "Glutamate released in darkness from photoreceptors activates mGluR6, which is negatively associated with a membrane non-selective cation channel, the transient receptor potential melanoma-related 1, TRPM1, resulting in cell hyperpolarization. "
01/01/2018 - "TRPM1, the first member of the melanoma-related transient receptor potential (TRPM) subfamily, is the visual transduction channel downstream of metabotropic glutamate receptor 6 (mGluR6) on retinal ON bipolar cells (BCs). "