Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration.

doi:10.1073/pnas.92.7.3070

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Article

Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration.

Proceedings of the National Academy of Sciences of the United States of America - 28 Mar 1995

Colley N J, Cassill J A, Baker E K, Zuker C S

Abstract excerpt

Retinitis pigmentosa (RP) is a group of hereditary human diseases that cause retinal degeneration and lead to eventual blindness. More than 25% of all RP cases in humans appear to be caused by dominant mutations in the gene encoding the visual pigment rhodopsin. The mechanism by which the mutant rhodopsin proteins cause dominant retinal degeneration is still unclear. Interestingly, the great majority of these...

Topics

Alleles
Amino Acid Sequence
Animals
Biological Transport
Cloning, Molecular
Drosophila
Electroretinography
Endoplasmic Reticulum
Ethyl Methanesulfonate
Genes, Dominant
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutagenesis

Photoreceptor Cells

Photoreceptor Cells, Invertebrate

Point Mutation

Protein Folding

Protein Structure, Secondary

Recombinant Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 7708777
DOI: 10.1073/pnas.92.7.3070
PMCID: PMC42361

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7708777-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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