(Q28507533)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

title

Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

main subject

gene therapy

0 references

photoreceptor protein

0 references

Rhodopsin

1 reference

Bardet-Biedl syndrome 4 (human)

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Bardet-Biedl syndrome

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

author name string

David L Simons

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Sanford L Boye

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Samuel M Wu

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

language of work or name

English

0 references

publication date

28 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

26 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

volume

108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

issue

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

page(s)

6276-6281

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

26 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Intraocular route of AAV2 vector administration defines humoral immune response and therapeutic potential

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Leber congenital amaurosis: genes, proteins and disease mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Versatility of AAV vectors for retinal gene transfer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Analysis of kinesin-2 function in photoreceptor cells using synchronous Cre-loxP knockout of Kif3a with RHO-Cre.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Production and purification of recombinant adeno-associated virus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Efficient photoreceptor-targeted gene expression in vivo by recombinant adeno-associated virus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Analysis of ERG a-wave amplification and kinetics in terms of the G-protein cascade of phototransduction.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076852

Long-term doxycycline-regulated transgene expression in the retina of nonhuman primates following subretinal injection of recombinant AAV vectors

2 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1019222108

An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1019222108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1019222108

Cone-specific expression using a human red opsin promoter in recombinant AAV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1019222108

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/10.1073%2FPNAS.1019222108

Stable rAAV-mediated transduction of rod and cone photoreceptors in the canine retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1019222108

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/10.1073%2FPNAS.1019222108

Rod phototransduction in retinitis pigmentosa. Distinguishing alternative mechanisms of 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=3076852

27 November 2018

Identifiers

DOI

10.1073/PNAS.1019222108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

26 January 2020

ADS bibcode

2011PNAS..108.6276S

0 references

3712457

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3712457

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21444805%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

PubMed publication ID

21444805

1 reference