(Q24608049)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

phase I clinical trial

0 references

congenital disorder

0 references

vector-borne disease

0 references

0 references

Leber congenital amaurosis

1 reference

based on heuristic

inferred from title

William W Hauswirth

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Samuel G. Jacobson

11

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

author name string

Tomas S Aleman

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Shalesh Kaushal

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Artur V Cideciyan

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Sharon B Schwartz

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Lili Wang

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Thomas J Conlon

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Sanford L Boye

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Terence R Flotte

9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Barry J Byrne

10

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

language of work or name

0 references

publication date

1 October 2008

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Human Gene Therapy

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

19

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

10

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

979-990

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Safety and efficacy of gene transfer for 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=2940541

7 April 2017

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

7 April 2017

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

7 April 2017

Latent adeno-associated virus infection elicits humoral but not cell-mediated immune responses in a nonhuman primate model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

7 April 2017

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

7 April 2017

Effect of gene therapy on visual function 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=2940541

7 April 2017

Clinical course and visual function in a family with mutations in the RPE65 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

7 April 2017

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

7 April 2017

Immunity to adeno-associated virus vectors in animals and humans: a continued challenge

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Human cone photoreceptor dependence on RPE65 isomerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

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=2940541

27 September 2017

Ultrahigh-resolution optical coherence tomography in patients with decreased visual acuity after retinal detachment repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Anatomy and development of the macula: specialisation and the vulnerability to macular degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Adeno-associated viral vectors for clinical gene transfer studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Laser flare-cell photometry: methodology and clinical applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Gene therapy of retinal dystrophies: achievements, challenges and prospects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Ocular immune privilege: therapeutic opportunities from an experiment of nature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Production of clinical-grade recombinant adeno-associated virus vectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Recovery of visual acuity after retinal detachment involving the macula

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

27 September 2017

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

30 May 2018

Preliminary results of gene therapy for retinal degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

The association between visual acuity and central retinal thickness in retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

The correlation between height of macular detachment and visual outcome in macula-off retinal detachments of < or = 7 days' duration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

In utero gene therapy rescues vision in a murine model of congenital blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Management of macular holes that develop after retinal detachment repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Intramuscular administration of recombinant adeno-associated virus 2 alpha-1 antitrypsin (rAAV-SERPINA1) vectors in a nonhuman primate model: safety and immunologic aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Gene therapy restores vision in a canine model of childhood blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Novel tools for production and purification of recombinant adenoassociated virus vectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940541

28 November 2018

Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774912

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774912

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relation of optical coherence tomography to microanatomy in normal and rd chickens

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774912

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New visual acuity charts for clinical research

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774912

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of cellular immune responses in subjects chronically infected with HIV type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774912

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Standardization of vitreal inflammatory activity in intermediate and posterior uveitis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774912

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Signs and symptoms of uveitis. I. Anterior uveitis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774912

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Visual recovery in macula-off rhegmatogenous retinal detachments

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774912

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Histopathology of the human retina in retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/18774912

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1089/HUM.2008.107

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18774912%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24608049&oldid=1749473870"