Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy. (Q35593573)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10430891%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy (English)

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10 December 2019

1

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10 December 2019

David M Hunt

5

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10 December 2019

author name string

S C Woodcock

2

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10 December 2019

R E Kelsell

3

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10 December 2019

V Ramamurthy

4

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10 December 2019

J B Hurley

6

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10 December 2019

language of work or name

English

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publication date

1 August 1999

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Proceedings of the National Academy of Sciences of the United States of America

10 December 2019

published in

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10 December 2019

volume

96

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10 December 2019

issue

16

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10 December 2019

page(s)

9039-9044

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Mapping sites in guanylyl cyclase activating protein-1 required for regulation of photoreceptor membrane guanylyl cyclases

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Mapping functional domains of the guanylate cyclase regulator protein, GCAP-2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Detailed localization of photoreceptor guanylate cyclase activating protein-1 and -2 in mammalian retinas using light and electron microscopy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Changes in biological activity and folding of guanylate cyclase-activating protein 1 as a function of calcium

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Catalytic mechanism of the adenylyl and guanylyl cyclases: modeling and mutational analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Calcium binding, but not a calcium-myristoyl switch, controls the ability of guanylyl cyclase-activating protein GCAP-2 to regulate photoreceptor guanylyl cyclase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Inactivation of EF-hands makes GCAP-2 (p24) a constitutive activator of photoreceptor guanylyl cyclase by preventing a Ca2+-induced "activator-to-inhibitor" transition

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Purification and physiological evaluation of a guanylate cyclase activating protein from retinal rods

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Identification of sequences mediating guanylyl cyclase dimerization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Cloning, sequencing, and expression of a 24-kDa Ca(2+)-binding protein activating photoreceptor guanylyl cyclase.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Molecular cloning and characterization of retinal photoreceptor guanylyl cyclase-activating protein.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Cone and cone-rod dystrophies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Dephosphorylation of the guanylyl cyclase-A receptor causes desensitization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=17728

The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator

26 September 2018

1 reference

12 December 2020

The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain

1 reference

12 December 2020

Functional reconstitution of photoreceptor guanylate cyclase with native and mutant forms of guanylate cyclase-activating protein 1

1 reference

12 December 2020

Domain-specific stabilization of photoreceptor membrane guanylyl cyclase by adenine nucleotides and guanylyl cyclase activating proteins (GCAPs)

1 reference

12 December 2020

Third calcium-modulated rod outer segment membrane guanylate cyclase transduction mechanism

1 reference

12 December 2020

Measurement of cytosolic free Ca2+ with quin2

1 reference

12 December 2020

Preparation of solutions with free calcium concentration in the nanomolar range using 1,2-bis(o-aminophenoxy)ethane-N,N,N',N'-tetraacetic acid

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.96.16.9039

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10430891%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10430891%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

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