(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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scholarly article

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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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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

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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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Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

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Mutational analysis of the cysteines in the extracellular domain of the human Ca2+ receptor: effects on cell surface expression, dimerization and signal transduction

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A point mutation in the human melanin concentrating hormone receptor 1 reveals an important domain for cellular trafficking

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A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

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Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

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Metabotropic glutamate receptors in vertebrate retina.

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SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

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Probing the ligand-binding domain of the mGluR4 subtype of metabotropic glutamate receptor

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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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NCD3G: a novel nine-cysteine domain in family 3 GPCRs

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

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Metabotropic glutamate receptors: synaptic transmission, modulation, and plasticity.

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Predicting deleterious amino acid substitutions

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Developmentally regulated postsynaptic localization of a metabotropic glutamate receptor in rat rod bipolar cells

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The ligand-binding domain in metabotropic glutamate receptors is related to bacterial periplasmic binding proteins

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Expression and purification of the extracellular ligand binding region of metabotropic glutamate receptor subtype 1.

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Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

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Constraints on proper folding of the amino terminal domains of group III metabotropic glutamate receptors

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The metabotropic glutamate receptors: structure and functions

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Evolution, structure, and activation mechanism of family 3/C G-protein-coupled receptors

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The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

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Human non-synonymous SNPs: server and survey

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Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness

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Metabotropic glutamate receptor 5 is a disulfide-linked dimer

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Molecular determinants of high affinity binding to group III metabotropic glutamate receptors

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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

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Prediction of deleterious human alleles

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In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

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Functional coupling of a human retinal metabotropic glutamate receptor (hmGluR6) to bovine rod transducin and rat Go in an in vitro reconstitution system

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Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

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Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

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Molecular modeling and mutagenesis of the ligand-binding pocket of the mGlu3 subtype of metabotropic glutamate receptor

1 reference

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NYX(Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein

1 reference

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based on heuristic

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1 reference

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1 reference

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Identifiers

10.1002/HUMU.20499

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https://api.fatcat.wiki/v0/release/tlrf4kafxndk3me64lxkzt6dci

24 November 2022

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

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