Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse. (Q35518971)

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scientific article published on 9 September 2011

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English	Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse.	scientific article published on 9 September 2011

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8 February 2020

Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse (English)

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8 February 2020

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photoreceptor protein

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William W Hauswirth

9

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8 February 2020

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Sanford L Boye

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8 February 2020

Thomas Conlon

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8 February 2020

Kirsten Erger

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Renee Ryals

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Andy Neeley

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Travis Cossette

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8 February 2020

Jijing Pang

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Frank M Dyka

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Shannon E Boye

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9 September 2011

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8 February 2020

Investigative Ophthalmology Visual Science

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8 February 2020

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8 February 2020

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8 February 2020

7098-7108

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8 February 2020

Intravitreal injection of AAV2 transduces macaque inner retina

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

1 reference

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12 July 2018

RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells

1 reference

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12 July 2018

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

1 reference

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12 July 2018

A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis

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rAAV2/5 gene-targeting to rods:dose-dependent efficiency and complications associated with different promoters

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

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12 July 2018

Changes in adeno-associated virus-mediated gene delivery in retinal degeneration

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12 July 2018

Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion

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12 July 2018

Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions

1 reference

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12 July 2018

Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors

1 reference

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12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Next generation of adeno-associated virus 2 vectors: point mutations in tyrosines lead to high-efficiency transduction at lower doses

1 reference

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12 July 2018

Signal transducing membrane complexes of photoreceptor outer segments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Versatility of AAV vectors for retinal gene transfer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Biodistribution of rAAV vectors following intraocular administration: evidence for the presence and persistence of vector DNA in the optic nerve and in the brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

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

1 reference

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

G proteins and phototransduction.

1 reference

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12 July 2018

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Subretinal injections in rodent eyes: effects on electrophysiology and histology of rat retina.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Spectrum of retGC1 mutations in Leber's congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Photoreceptor guanylate cyclases: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Two eye guanylyl cyclases are expressed in the same photoreceptor cells and form homomers in preference to heteromers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Turned on by Ca2+! The physiology and pathology of Ca(2+)-binding proteins in the retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

12 July 2018

Two membrane forms of guanylyl cyclase found in the eye

1 reference

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Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2

1 reference

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Simultaneous extraction of high-quality RNA and DNA from small tissue samples

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1 reference

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Phototransduction, dark adaptation, and rhodopsin regeneration the proctor lecture.

1 reference

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

1 reference

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Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

26 September 2018

Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207713

26 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21778276

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural localization of retinal guanylate cyclase in human and monkey retinas

1 reference

https://pubmed.ncbi.nlm.nih.gov/21778276

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase

1 reference

https://pubmed.ncbi.nlm.nih.gov/21778276

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21778276

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21778276

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1167/IOVS.11-7867

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8 February 2020

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8 February 2020

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8 February 2020

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