AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia (Q28730645)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

William W Hauswirth

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

author name string

Ji-jing Pang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Xufeng Dai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Bo Lei

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Drew Everhart

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Yumiko Umino

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Jie Li

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Keqing Zhang

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Song Mao

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Sanford L Boye

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Li Liu

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Vince A Chiodo

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Xuan Liu

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Wei Shi

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Ye Tao

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Bo Chang

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

language of work or name

English

0 references

publication date

11 April 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

page(s)

e35250

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

29 January 2020

copyright license

start time

11 April 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

AAV-mediated gene therapy in mouse models of recessive retinal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Gene therapy rescues cone function in congenital achromatopsia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Vision 1 year after gene therapy for Leber's congenital amaurosis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Safety and efficacy of gene transfer for Leber's congenital amaurosis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Speed, spatial, and temporal tuning of rod and cone vision in mouse

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Restoration of cone vision in a mouse model of achromatopsia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Subunit configuration of heteromeric cone cyclic nucleotide-gated channels

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

CNGA3 mutations in hereditary cone photoreceptor disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Cyclic nucleotide-gated ion channels

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Photoreceptor structure and function in patients with congenital achromatopsia.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Achromatopsia as a potential candidate for gene therapy.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Self-complementary AAV5 vector facilitates quicker transgene expression in photoreceptor and retinal pigment epithelial cells of normal mouse.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Functional interchangeability of rod and cone transducin alpha-subunits.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Native cone photoreceptor cyclic nucleotide-gated channel is a heterotetrameric complex comprising both CNGA3 and CNGB3: a study using the cone-dominant retina of Nrl-/- mice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEbeta mutation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Beyond counting photons: trials and trends in vertebrate visual transduction

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

The cone dysfunction syndromes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Virus-mediated transduction of murine retina with adeno-associated virus: effects of viral capsid and genome size.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

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.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324465

A locus for autosomal recessive achromatopsia on human chromosome 8q

3 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035250

Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035250

New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035250

Human blue-opsin promoter preferentially targets reporter gene expression to rat s-cone photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035250

Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035250

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0035250

Case 15-2009: a man with coma after cardiac arrest

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22509403

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

AAV-mediated gene replacement, either alone or in combination with physical and pharmacological agents, results in partial and transient protection from photoreceptor degeneration associated with betaPDE deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22509403

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0035250

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

ADS bibcode

2012PLoSO...735250P

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PubMed publication ID

22509403

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22509403%20AND%20SRC:MED&resulttype=core&format=json