(Q40147345)

17 September 2017

Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation (English)

1 reference

17 September 2017

photoreceptor protein

0 references

author name string

Shannon Conley

1

1 reference

17 September 2017

May Nour

2

1 reference

17 September 2017

Steven J Fliesler

3

1 reference

17 September 2017

Muna I Naash

4

1 reference

17 September 2017

language of work or name

English

0 references

publication date

1 December 2007

1 reference

Investigative Ophthalmology Visual Science

17 September 2017

1 reference

17 September 2017

48

1 reference

17 September 2017

12

1 reference

17 September 2017

5397-5407

1 reference

Genetic supplementation of RDS alleviates a loss-of-function phenotype in C214S model of retinitis pigmentosa

17 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

The tetraspanin protein peripherin-2 forms a complex with melanoregulin, a putative membrane fusion regulator

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Role of the second intradiscal loop of peripherin/rds in homo and hetero associations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

The C terminus of peripherin/rds participates in rod outer segment targeting and alignment of disk incisures.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

P2Y2Receptor Agonist INS37217 Enhances Functional Recovery after Detachment Caused by Subretinal Injection in Normal andrdsMice

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

A soluble peripherin/Rds C-terminal polypeptide promotes membrane fusion and changes conformation upon membrane association

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Molecular characterization of the skate peripherin/rds gene: relationship to its orthologues and paralogues

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

The relationship between opsin overexpression and photoreceptor degeneration

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Ribozyme rescue of photoreceptor cells in P23H transgenic rats: long-term survival and late-stage therapy.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Expression and characterization of peripherin/rds-rom-1 complexes and mutants implicated in retinal degenerative diseases.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Fusion between retinal rod outer segment membranes and model membranes: functional assays and role for peripherin/rds

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Fusion between retinal rod outer segment membranes and model membranes: a role for photoreceptor peripherin/rds

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

RNA interference-mediated suppression and replacement of human rhodopsin in vivo

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Suppression of mouse rhodopsin expression in vivo by AAV mediated siRNA delivery

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Peripherin/rds fusogenic function correlates with subunit assembly

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Preferential silencing of a common dominant rhodopsin mutation does not inhibit retinal degeneration in a transgenic model

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2263142

Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration

2 December 2018

1 reference

12 December 2020

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene

1 reference

12 December 2020

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families

1 reference

12 December 2020

Peripherin. A rim-specific membrane protein of rod outer segment discs

1 reference

12 December 2020

Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice

1 reference

12 December 2020

A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene

1 reference

12 December 2020

Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.07-0663

1 reference

17 September 2017

1 reference

17 September 2017

1 reference