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Article

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

Scientific reports - 24 May 2017

Böhm Sybille, Riedmayr Lisa M, Nguyen O N Phuong, Gießl Andreas, Liebscher Toni, Butz Elisabeth S, Schön Christian, Michalakis Stylianos, Wahl-Schott Christian, Biel Martin, Becirovic Elvir

Abstract excerpt

Mutations in the photoreceptor outer segment (OS) specific peripherin-2 lead to autosomal dominant retinitis pigmentosa (adRP). By contrast, mutations in the peripherin-2 homolog Rom-1 cause digenic RP in combination with certain heterozygous mutations in peripherin-2. The mechanisms underlying the differential role of peripherin-2 and Rom-1 in RP pathophysiology remained elusive so far. Here, focusing on two...

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PMID: 28539581
DOI: 10.1038/s41598-017-02514-5
PMCID: PMC5443838

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Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.PMID 28539581Read ↗

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