Article

Energetic failure and oxidative stress underlie the <i>Prpf31</i> splicing factor-related mouse phenotype

2025-03-04

Abstract excerpt

Mutations of ubiquitous PRPF splicing factors represent the second cause of retina-specific autosomic dominant retinitis pigmentosa. Prpf31 downregulation decreases phagocytosis of mouse and human retinal pigment epithelial (RPE) cells, thus suggesting similar pathogenesis between species. With time, the mouse RPE ultrastructure shows signs of cellular stress such as cytoplasmic vacuoles. To decipher the primary...

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Literature Corpus work: 83661344-b9e6-5b6f-a524-86b2636f2ff3
DOI: 10.1101/2025.02.28.640751

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