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Article

Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders.

Nature communications - 4 Jun 2024

Rutan Woods Christian T, Makia Mustafa S, Lewis Tylor R, Crane Ryan, Zeibak Stephanie, Yu Paul, Kakakhel Mashal, Castillo Carson M, Arshavsky Vadim Y, Naash Muna I, Al-Ubaidi Muayyad R

Abstract excerpt

Given the absence of approved treatments for pathogenic variants in Peripherin-2 (PRPH2), it is imperative to identify a universally effective therapeutic target for PRPH2 pathogenic variants. To test the hypothesis that formation of the elongated discs in presence of PRPH2 pathogenic variants is due to the presence of the full complement of rhodopsin in absence of the required amounts of functional PRPH2. Here...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38834544
DOI: 10.1038/s41467-024-48846-5
PMCID: PMC11150396

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