(Q24595787)

22 June 2017

title

Gene therapy rescues cone function in congenital achromatopsia (English)

1 reference

22 June 2017

0 references

0 references

1 reference

András M Komáromy

1

1 reference

22 June 2017

John J Alexander

2

1 reference

22 June 2017

Jessica S Rowlan

3

1 reference

22 June 2017

Monique M Garcia

4

1 reference

22 June 2017

Vince A Chiodo

5

1 reference

22 June 2017

Asli Kaya

6

1 reference

22 June 2017

Jacqueline C Tanaka

7

1 reference

22 June 2017

Gregory M Acland

8

1 reference

22 June 2017

William W Hauswirth

9

1 reference

22 June 2017

Gustavo D Aguirre

10

1 reference

22 June 2017

language of work or name

English

0 references

publication date

8 April 2010

1 reference

22 June 2017

published in

Human Molecular Genetics

1 reference

22 June 2017

volume

19

1 reference

22 June 2017

issue

13

1 reference

22 June 2017

page(s)

2581-2593

1 reference

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

22 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

CNGA3 mutations in hereditary cone photoreceptor disorders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Genetic basis of total colourblindness among the Pingelapese islanders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Homozygosity mapping of the Achromatopsia locus in the Pingelapese

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Effect of gene therapy on visual function in Leber's congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Restoration of cone vision in a mouse model of achromatopsia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Clinical and genetic features of Hungarian achromatopsia patients

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Subunit configuration of heteromeric cone cyclic nucleotide-gated channels

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Evaluation of a behavioral method for objective vision testing and identification of achromatopsia in dogs

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Gene therapy for red-green colour blindness in adult primates

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Longitudinal evaluation of expression of virally delivered transgenes in gerbil cone photoreceptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Targeting gene expression to cones with human cone opsin promoters in recombinant AAV.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Emergence of novel color vision in mice engineered to express a human cone photopigment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Production of recombinant adeno-associated virus vectors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

The cone dysfunction syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Recombinant adeno-associated virus serotype 4 mediates unique and exclusive long-term transduction of retinal pigmented epithelium in rat, dog, and nonhuman primate after subretinal delivery

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Human photoreceptor topography

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Distribution and morphology of human cone photoreceptors stained with anti-blue opsin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Topographical characterization of cone photoreceptors and the area centralis of the canine retina

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Canine cone transducin-gamma gene and cone degeneration in the cd dog.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Selective absence of cone outer segment beta 3-transducin immunoreactivity in hereditary cone degeneration (cd).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Photopigments of dogs and foxes and their implications for canid vision.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

30 May 2018

Color vision in the dog.

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

30 May 2018

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

The electroretinogram in dogs with inherited cone degeneration

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

A locus for autosomal recessive achromatopsia on human chromosome 8q

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

Postsurgical assessment and long-term safety of recombinant adeno-associated virus-mediated gene transfer into the retinas of dogs and primates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

AAV-mediated expression targeting of rod and cone photoreceptors with a human rhodopsin kinase promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

Packing arrangement of the three cone classes in primate retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

Rod and cone photoreceptor cells express distinct genes for cGMP-gated channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

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/10.1093%2FHMG%2FDDQ136

Reorganization of human cortical maps caused by inherited photoreceptor abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

The "silent substitution" method in visual research.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

Loss of cone function in age-related maculopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

Application of a new subretinal injection device in the dog.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

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/10.1093%2FHMG%2FDDQ136

A Novel Retinal Degeneration Locus Identified by Linkage and Comparative Mapping of Canine Early Retinal Degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ136

Gene therapy restores vision in a canine model of childhood blindness

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883338

Photoreceptor loss in age-related macular degeneration

28 November 2018

1 reference

12 December 2020

1 reference

12 December 2020

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Clinical features of hemeralopia in the adult Alaskan malamute

1 reference

12 December 2020

Hemeralopia in Alaskan Malamute pups

1 reference

12 December 2020

Pathology of hemeralopia in the Alaskan malamute dog

1 reference

12 December 2020

Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds

1 reference

12 December 2020

A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ136

1 reference

OpenCitations bibliographic resource ID

22 June 2017

1651543

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1651543

1 reference