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The human-specific <i>RPGR</i> isoform <i> RPGR <sup>s14/15</sup> </i> and the clinically approved Rho/ROCK inhibitor Ripasudil represent therapeutic options to address <i>RPGR</i> -associated defects

2025-05-13

Abstract excerpt

Pathogenic variants in the RPGR gene are the primary cause of photoreceptor degeneration in X-linked retinitis pigmentosa (RP). Previous studies have linked RPGR dysfunction to defects in ciliary structure and actin turnover. RPGR encodes three major isoforms— RPGR 1–19 , RPGR ORF15 , and the human-specific RPGR s14/15 —yet the function of RPGR s14/15 remains poorly understood. There is an urgent unmet...

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Literature Corpus work
30cd5da2-fe25-5606-a406-be6304fc0b3a
DOI
10.1101/2025.05.09.653106
Open publication

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The human-specific <i>RPGR</i> isoform <i> RPGR <sup>s14/15</sup> </i> and the clinically approved Rho/ROCK inhibitor Ripasudil represent therapeutic options to address <i>RPGR</i> -associated defectsDOI 10.1101/2025.05.09.653106
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