Aggregation of the constitutively active K296E rhodopsin mutant contributes to retinal degeneration

Abstract excerpt

<h4>ABSTRACT</h4> A K296E mutation in rhodopsin causes autosomal dominant retinitis pigmentosa, a progressive retinal degenerative disease. Early in vitro characterizations of this mutation studied on a bovine rhodopsin background indicated that the mutation causes the receptor to be constitutively active. This molecular defect has been the primary focus when considering the pathogenic mechanism of the mutation....

Topics

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• Disease Models, Animal
• Mice
• Mutation
• Photoreceptor Cells
• Protein Aggregates
• Retinal Degeneration
• Retinitis Pigmentosa
• Rhodopsin

Identifiers and source

Literature Corpus work

8452e17b-68d3-5cfc-830c-accb56651eb9

DOI

10.1101/2025.03.26.643112