Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations (Q33584461)

28 July 2017

title

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

1 reference

28 July 2017

0 references

1 reference

X Sun

1

1 reference

28 July 2017

B Pawlyk

2

1 reference

28 July 2017

X Xu

3

1 reference

28 July 2017

X Liu

4

1 reference

28 July 2017

O V Bulgakov

5

1 reference

28 July 2017

M Adamian

6

1 reference

28 July 2017

M A Sandberg

7

1 reference

28 July 2017

S C Khani

8

1 reference

28 July 2017

M-H Tan

9

1 reference

28 July 2017

A J Smith

10

1 reference

28 July 2017

R R Ali

11

1 reference

28 July 2017

T Li

12

1 reference

28 July 2017

publication date

27 August 2009

1 reference

28 July 2017

1 reference

28 July 2017

volume

17

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

117-131

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Leber congenital amaurosis: genes, proteins and disease mechanisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEbeta mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Restoration of cone vision in a mouse model of achromatopsia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Recombinant AAV-mediated gene transfer to the retina: gene therapy perspectives

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Leber congenital amaurosis: a genetic paradigm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

An overview of Leber congenital amaurosis: a model to understand human retinal development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Prospects for gene therapy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

More than folding: localized functions of cytosolic chaperones

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Gene therapy and animal models for retinal disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Unfolding retinal dystrophies: a role for molecular chaperones?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Retinitis pigmentosa. The Friedenwald Lecture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2009.104

Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2009.104

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/10.1038%2FGT.2009.104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2009.104

Gene transfer into the mouse retina mediated by an adeno-associated viral vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2009.104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2009.104

Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2009.104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2009.104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2009.104

A short, highly active photoreceptor-specific enhancer/promoter region upstream of the human rhodopsin kinase gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2009.104

Conserved structure and spatiotemporal function of the compact rhodopsin kinase (GRK1) enhancer/promoter.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

Gene therapy restores vision in a canine model of childhood blindness

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2804971

A quantitative account of the activation steps involved in phototransduction in amphibian photoreceptors

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19710705

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Immunophilins in the nervous system

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19710705

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GT.2009.104

1 reference

28 July 2017

1 reference

28 July 2017

1 reference