#retinitis pigmentosa — top 20, last 30d
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N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.
(academic.oup.com)
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Human Molecular Genetics 2026-08-10 | #retinitis pigmentosa #splicing #photoreceptors #apoptosis #mitochondria | |
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A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction.
(science.org)
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Science Advances 2026-07-29 | #deep mutational scanning #retinitis pigmentosa #protein trafficking #chaperone-therapy #pathogenicity-prediction |