(Q35715949)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Michael Larsen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Eberhart Zrenner

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Susanne Kohl

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Tanja Grau

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Thomas Rosenberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Hélène Dollfus

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Olav H Haugen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

E Cumhur Sener

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Bernhard Jurklies

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Sten Andreasson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Christoph Kernstock

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Bernd Wissinger

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

1 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

719-730

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Characterization of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis 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=3269206

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Cyclic GMP-hydrolyzing phosphodiesterases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

The Structure of the GAF A Domain from Phosphodiesterase 6C Reveals Determinants of cGMP Binding, a Conserved Binding Surface, and a Large cGMP-dependent Conformational Change

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Biochemistry and physiology of cyclic nucleotide phosphodiesterases: essential components in cyclic nucleotide signaling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Like night and day: rods and cones have different pigment regeneration pathways

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

The two GAF domains in phosphodiesterase 2A have distinct roles in dimerization and in cGMP binding

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

CNGA3 mutations in hereditary cone photoreceptor disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Genetic basis of total colourblindness among the Pingelapese islanders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Probing domain functions of chimeric PDE6alpha'/PDE5 cGMP-phosphodiesterase.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive 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=3269206

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

ERGs, cone-isolating VEPs and analytical techniques in children with cone dysfunction syndromes

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

The GAFa domains of rod cGMP-phosphodiesterase 6 determine the selectivity of the enzyme dimerization

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Direct interaction of the inhibitory gamma-subunit of Rod cGMP phosphodiesterase (PDE6) with the PDE6 GAFa domains.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

A conformational switch in the inhibitory gamma-subunit of PDE6 upon enzyme activation by transducin.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269206

Mutational analysis of functional interfaces of transducin

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21127010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multiple zinc binding sites in retinal rod cGMP phosphodiesterase, PDE6alpha beta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21127010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of the gamma subunit-interacting residues on photoreceptor cGMP phosphodiesterase, PDE6alpha '

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21127010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDQ517

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21127010%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference