(Q28115716)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia (English)

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

activating transcription factor 6

16 February 2020

main subject

1 reference

GOA release 2020-03-11

visual perception

1 reference

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Wei-Chieh Chiang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Ajoy Vincent

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Susanne Roosing

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Eberhart Zrenner

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

15

Elise Héon

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

28

Robert K Koenekoop

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

22

Frans P M Cremers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

21

Anneke I den Hollander

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

27

Michel Michaelides

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

25

Anthony T Moore

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

32

Bernd Wissinger

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

author name string

Ditta Zobor

2

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Nicole Weisschuh

4

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Jennifer Staller

5

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Irene Gonzalez Menendez

6

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Stanley Chang

7

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Marina Garcia Garrido

9

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Vithiyanjali Sothilingam

10

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Franco Stanzial

12

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Francesco Benedicenti

13

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Francesca Inzana

14

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Jill Beis

17

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Günther Rudolph

19

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Irma Lopez

23

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Huanan Ren

24

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Susanne C Beck

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Mathias W Seeliger

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Tim M Strom

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Andrew R Webster

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Randal J Kaufman

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Stephen H Tsang

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Jonathan H Lin

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

language of work or name

English

0 references

publication date

1 June 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

47

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

757-765

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

issue

7

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

Identification of the cis-acting endoplasmic reticulum stress response element responsible for transcriptional induction of mammalian glucose-regulated proteins. Involvement of basic leucine zipper transcription factors

16 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Identification of the G13 (cAMP-response-element-binding protein-related protein) gene product related to activating transcription factor 6 as a transcriptional activator of the mammalian unfolded protein response

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Transcription factor ATF cDNA clones: an extensive family of leucine zipper proteins able to selectively form DNA-binding heterodimers

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Interaction of ATF6 and serum response factor

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Gene therapy rescues cone function in congenital achromatopsia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Genetic basis of total colourblindness among the Pingelapese islanders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Endoplasmic reticulum stress-induced formation of transcription factor complex ERSF including NF-Y (CBF) and activating transcription factors 6alpha and 6beta that activates the mammalian unfolded protein response

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Restoration of cone vision in a mouse model of achromatopsia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Opposing roles for ATF6alpha and ATF6beta in endoplasmic reticulum stress response gene induction

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

The unfolded protein response: from stress pathway to homeostatic regulation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Early structural anomalies observed by high-resolution imaging in two related cases of autosomal-dominant retinitis pigmentosa

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

A prospective longitudinal study of retinal structure and function in achromatopsia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Cone photoreceptor abnormalities correlate with vision loss in a case of acute posterior multifocal placoid pigment epitheliopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Retinal structure and function in achromatopsia: implications for gene therapy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Stress-independent activation of XBP1s and/or ATF6 reveals three functionally diverse ER proteostasis environments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

The impact of the unfolded protein response on human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Photoreceptor structure and function in patients with congenital achromatopsia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Noninvasive, in vivo assessment of mouse retinal structure using optical coherence tomography

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Cooperative phagocytes: resident microglia and bone marrow immigrants remove dead photoreceptors in retinal lesions.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

In vivo confocal imaging of the retina in animal models using scanning laser ophthalmoscopy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Coordination of ATF6-mediated transcription and ATF6 degradation by a domain that is shared with the viral transcription factor, VP16.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Regulation of transcription factors by protein degradation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

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.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

The mammalian endoplasmic reticulum stress response element consists of an evolutionarily conserved tripartite structure and interacts with a novel stress-inducible complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

HomozygosityMapper--an interactive approach to homozygosity mapping

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

UPR pathways combine to prevent hepatic steatosis caused by ER stress-mediated suppression of transcriptional master regulators.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

ATF6alpha optimizes long-term endoplasmic reticulum function to protect cells from chronic stress

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Temporal clustering of gene expression links the metabolic transcription factor HNF4α to the ER stress-dependent gene regulatory network

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

ISCEV Standard for full-field clinical electroretinography (2008 update).

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Effects of the isoform-specific characteristics of ATF6 alpha and ATF6 beta on endoplasmic reticulum stress response gene expression and cell viability

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Activation of ATF6 and an ATF6 DNA binding site by the endoplasmic reticulum stress response.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4610820

Transcriptional induction of mammalian ER quality control proteins is mediated by single or combined action of ATF6alpha and XBP1

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26029869

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Functional phenotyping of mouse models with ERG

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26029869

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3319

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26029869%20AND%20SRC:MED&resulttype=core&format=json