Pathogenic mechanism of the PLS1 gene variant in hearing loss and functional validation in a zebrafish model.

Abstract excerpt

PLS1, encoding an actin-bundling protein Plastin 1, is one of the pathogenic genes responsible for autosomal dominant non-syndromic hearing loss. The cellular damage caused by mutant plastin proteins may arise from loss of function and/or dominant-negative effects. In this study, we investigated the pathogenic mechanism of PLS1 mutations by establishing both in vitro cellular models and in vivo zebrafish models....

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