Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy (Q35119686)

6 August 2017

title

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

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6 August 2017

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6 August 2017

Rachael A Pearson

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James W. Bainbridge

object named as

James W Bainbridge

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author name string

Jianhua Xu

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6 August 2017

Alexander J Smith

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6 August 2017

Lynsie M Morris

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6 August 2017

Steven J Fliesler

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6 August 2017

Xi-Qin Ding

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6 August 2017

Robin R Ali

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6 August 2017

publication date

15 May 2011

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6 August 2017

published in

Human Molecular Genetics

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6 August 2017

volume

20

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6 August 2017

issue

16

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6 August 2017

page(s)

3161-3175

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Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency

6 August 2017

cites work

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

9 July 2018

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9 July 2018

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9 July 2018

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

9 July 2018

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9 July 2018

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9 July 2018

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

9 July 2018

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Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors

9 July 2018

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Restoration of cone vision in a mouse model of achromatopsia

9 July 2018

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9 July 2018

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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.

9 July 2018

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9 July 2018

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Independent visual threshold measurements in the two eyes of freely moving rats and mice using a virtual-reality optokinetic system.

9 July 2018

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

9 July 2018

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

9 July 2018

1 reference

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Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif

9 July 2018

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Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

9 July 2018

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9 July 2018

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Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels

9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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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.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Cloning and immunocytochemical localization of a cyclic nucleotide-gated channel alpha-subunit to all cone photoreceptors in the mouse retina

9 July 2018

1 reference

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Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Structure and function of cyclic nucleotide-gated channels

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Blue cones and cone bipolar cells share transcriptional specificity as determined by expression of human blue visual pigment-derived transgenes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channel

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

A locus control region adjacent to the human red and green visual pigment genes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

High-resolution in vivo imaging in achromatopsia.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Functional activity of photoreceptor cyclic nucleotide-gated channels is dependent on the integrity of cholesterol- and sphingolipid-enriched membrane domains

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Assessment of ocular transduction using single-stranded and self-complementary recombinant adeno-associated virus serotype 2/8.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Purification of recombinant adeno-associated virus type 8 vectors by ion exchange chromatography generates clinical grade vector stock

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Transgenic mice expressing Cre-recombinase specifically in M- or S-cone photoreceptors

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Retinoic acid upregulates cone arrestin expression in retinoblastoma cells through a Cis element in the distal promoter region.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Reorganization of human cortical maps caused by inherited photoreceptor abnormalities.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

Gene therapy restores vision in a canine model of childhood blindness

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

The murine cone photoreceptor: a single cone type expresses both S and M opsins with retinal spatial patterning

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140821

27 September 2018

Identifiers

DOI

10.1093/HMG/DDR218

1 reference

6 August 2017

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6 August 2017

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