(Q42173687)

18 October 2017

Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene (English)

1 reference

Rod outer segment membrane protein 1

18 October 2017

1 reference

GOA release 2020-03-11

Peripherin 2

1 reference

GOA release 2020-03-11

1 reference

Shannon M Conley

1

1 reference

18 October 2017

Heidi M Stricker

series ordinal

2

1 reference

18 October 2017

Muna I Naash

series ordinal

3

1 reference

18 October 2017

language of work or name

English

0 references

publication date

1 February 2010

1 reference

18 October 2017

1 reference

18 October 2017

49

1 reference

18 October 2017

5

1 reference

18 October 2017

905-911

1 reference

Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

Outer segment oligomerization of Rds: evidence from mouse models and subcellular fractionation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

Effect of Rds abundance on cone outer segment morphogenesis, photoreceptor gene expression, and outer limiting membrane integrity

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

Association of a photoreceptor-specific tetraspanin protein, ROM-1, with triton X-100-resistant membrane rafts from rod outer segment disk membranes

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

Folding and subunit assembly of photoreceptor peripherin/rds is mediated by determinants within the extracellular/intradiskal EC2 domain: implications for heterogeneous molecular pathologies

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

Solubilization and purification of enzymatically active glutathione S-transferase (pGEX) fusion proteins

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

Three homologs of rds/peripherin in Xenopus laevis photoreceptors that exhibit covalent and non-covalent interactions.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

Substitution of conserved residues within the active site alters the cleavage religation equilibrium of DNA topoisomerase I.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937569

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

17 August 2018

1 reference

12 December 2020

Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene

1 reference

12 December 2020

Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene

1 reference

12 December 2020

Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Transgenic analysis of rds/peripherin N-glycosylation: effect on dimerization, interaction with rom1, and rescue of the rds null phenotype

1 reference

12 December 2020

Identifiers

DOI

10.1021/BI901622W

1 reference

18 October 2017

1 reference

18 October 2017

PubMed publication ID

20055437

1 reference