(Q28585236)

31 January 2017

title

Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors (English)

1 reference

Retinitis pigmentosa GTPase regulator

31 January 2017

main subject

photoreceptor protein

0 references

1 reference

Rhodopsin

1 reference

Glial fibrillary acidic protein

1 reference

Ciliary rootlet coiled-coil, rootletin

1 reference

Whirlin

1 reference

Usherin

1 reference

Adhesion G protein-coupled receptor V1

1 reference

author name string

Junhuang Zou

1

1 reference

31 January 2017

Ling Luo

2

1 reference

31 January 2017

Zuolian Shen

3

1 reference

31 January 2017

Vince A. Chiodo

4

1 reference

31 January 2017

Balamurali K. Ambati

5

1 reference

31 January 2017

William W. Hauswirth

6

1 reference

31 January 2017

Jun Yang

7

1 reference

31 January 2017

language of work or name

English

0 references

publication date

1 April 2011

1 reference

Investigative Ophthalmology Visual Science

31 January 2017

published in

1 reference

31 January 2017

volume

52

1 reference

31 January 2017

issue

5

1 reference

31 January 2017

page(s)

2343–2351

1 reference

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

31 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

The ciliary rootlet maintains long-term stability of sensory cilia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

AAV-mediated gene therapy for retinal disorders: from mouse to man.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Protein networks and complexes in photoreceptor cilia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Gene therapy progress and prospects: the eye.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Virus-mediated transduction of murine retina with adeno-associated virus: effects of viral capsid and genome size.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Usher syndrome: from genetics to pathogenesis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

IRES-dependent second gene expression is significantly lower than cap-dependent first gene expression in a bicistronic vector

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

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=3081228

Usher syndrome: definition and estimate of prevalence from two high-risk populations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Preliminary results of gene therapy for retinal 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=3081228

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081228

Problems in detecting etiological heterogeneity in genetic disease illustrated with retinitis pigmentosa

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21212183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Accumulation of glial fibrillary acidic protein in Müller radial glia during retinal degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/21212183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

31 January 2017

0 references

1 reference