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Article

Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.

Advances in experimental medicine and biology - 1 Jan 2016

Jin Minghao, Li Songhua, Hu Jane, Jin Heather H, Jacobson Samuel G, Bok Dean

Abstract excerpt

More than 100 different mutations in the RPE65 gene are associated with inherited retinal degeneration. Although some missense mutations have been shown to abolish isomerase activity of RPE65, the molecular bases leading to loss of function and retinal degeneration remain incompletely understood. Here we show that several missense mutations resulted in significant decrease in expression level of RPE65 in the...

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Identifiers

PMID: 26427455
DOI: 10.1007/978-3-319-17121-0_70
PMCID: PMC5623592

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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