(Q39987135)

English

Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).

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scholarly article

1 reference

Europe PubMed Central

16 September 2017

Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). (English)

1 reference

Europe PubMed Central

16 September 2017

author name string

Katja Koeppen

1

1 reference

Europe PubMed Central

16 September 2017

Peggy Reuter

2

1 reference

Europe PubMed Central

16 September 2017

Susanne Kohl

3

1 reference

Europe PubMed Central

16 September 2017

Britta Baumann

4

1 reference

Europe PubMed Central

16 September 2017

Thomas Ladewig

5

1 reference

Europe PubMed Central

16 September 2017

Bernd Wissinger

6

1 reference

Europe PubMed Central

16 September 2017

language of work or name

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publication date

1 May 2008

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Europe PubMed Central

16 September 2017

European Journal of Neuroscience

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Europe PubMed Central

16 September 2017

27

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Europe PubMed Central

16 September 2017

9

1 reference

Europe PubMed Central

16 September 2017

2391-2401

1 reference

Europe PubMed Central

16 September 2017

Rod and cone photoreceptor cells express distinct genes for cGMP-gated channels.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Cyclic nucleotide-gated channels. Molecular mechanisms of activation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein

1 reference

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A new subunit of the cyclic nucleotide-gated cation channel in retinal rods

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

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Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species

1 reference

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Potassium channel ontogeny

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

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The Birth of a Channel

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Subunit interactions in coordination of Ni2+ in cyclic nucleotide-gated channels

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Functional interactions between A' helices in the C-linker of open CNG channels

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Subunit configuration of heteromeric cone cyclic nucleotide-gated channels

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Molecular determinants of a Ca2+-binding site in the pore of cyclic nucleotide-gated channels: S5/S6 segments control affinity of intrapore glutamates

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

A state-independent interaction between ligand and a conserved arginine residue in cyclic nucleotide-gated channels reveals a functional polarity of the cyclic nucleotide binding site

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Molecular basis of an inherited form of incomplete achromatopsia.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

CNGA3 mutations in hereditary cone photoreceptor disorders

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Quality control in the secretory pathway: the role of calreticulin, calnexin and BiP in the retention of glycoproteins with C-terminal truncations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1460-9568.2008.06195.X

21 January 2018

Identifiers

10.1111/J.1460-9568.2008.06195.X

1 reference

Europe PubMed Central

16 September 2017

1 reference

Europe PubMed Central

16 September 2017

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