Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

Proceedings of the National Academy of Sciences of the United States of America - 26 Nov 1996

Goldberg A F, Molday R S

Abstract excerpt

Retinitis pigmentosa (RP) is a group of progressive retinal dystrophies that include the most common hereditary degenerative disease affecting the retina. Although most disease phenotypes appear to result from defects at single genetic loci (monogenic), at least one instance of RP appears to requ...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Macromolecular Substances
Share to Membrane Glycoproteins
Share to Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nerve Tissue Proteins

Share to Phenotype

Share to Point Mutation

Share to Recombinant Proteins

Share to Reference Values

Source

Open in PubMed Open full text

Identifiers

PMID: 8943002
DOI: 10.1073/pnas.93.24.13726
PMCID: PMC19405

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8943002-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.PMID 8943002Read ↗

Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.Semantic proximity Read ↗

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

Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.Semantic proximity Read ↗

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

Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.Semantic proximity Read ↗

The role of subunit assembly in peripherin-2 targeting to rod photoreceptor disk membranes and retinitis pigmentosa.Semantic proximity Read ↗

Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein.Semantic proximity Read ↗

Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.Semantic proximity Read ↗

Role of the Second Intradiscal Loop of Peripherin/<i>rds </i>in Homo and Hetero AssociationsSemantic proximity Read ↗

An intramembrane glutamic acid governs peripherin/rds function for photoreceptor disk morphogenesis.Semantic proximity Read ↗

Peripherin/rds Influences Membrane Vesicle MorphologySemantic proximity Read ↗

The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic miceSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.