(Q24301599)

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Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking

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Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking (English)

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Glutamate metabotropic receptor 6

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GOA release 2020-03-11

detection of light stimulus involved in visual perception

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GOA release 2020-03-11

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author name string

Christina Zeitz

1

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Ursula Forster

2

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John Neidhardt

3

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Silke Feil

4

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Stefan Kälin

5

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Dorothee Leifert

6

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Peter J Flor

7

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Wolfgang Berger

8

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language of work or name

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publication date

August 2007

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28

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8

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771-80

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A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

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Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

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Application of a fluorometric method to measure glutamate release from single retinal photoreceptors

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Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23

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The modeling of the structure of the cysteine-rich domain of metabotropic glutamate receptors

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Membrane topology of a metabotropic glutamate receptor

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A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

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Pharmacology and functions of metabotropic glutamate receptors

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Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

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Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

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The Whole Nucleotide Sequence and Chromosomal Localization of the Gene for Human Metabotropic Glutamate Receptor Subtype 6

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Human Ca2+ receptor cysteine-rich domain. Analysis of function of mutant and chimeric receptors

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A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness

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Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor

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Cloning, distribution and functional expression of the human mGlu6 metabotropic glutamate receptor

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LED-generated multifocal ERG on- and off-responses in complete congenital stationary night blindness -- a case report

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Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene

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10.1002/HUMU.20499

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24 November 2022

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Consolidated OpenCitations Corpus – April 2017

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