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• W4366239106 abstract "Abstract Different mutations in the RNA‐binding protein Pumilio1 (PUM1) cause divergent phenotypes whose severity tracks with dosage: a mutation that reduces PUM1 levels by 25% causes late‐onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Yet PUM1 targets are derepressed to equal degrees in both cases, and the more severe mutation does not hinder PUM1's RNA‐binding ability. We therefore considered the possibility that the severe mutation might disrupt PUM1 interactions, and identified PUM1 interactors in the murine brain. We find that mild PUM1 loss derepresses PUM1‐specific targets, but the severe mutation disrupts interactions with several RNA‐binding proteins and the regulation of their targets. In patient‐derived cell lines, restoring PUM1 levels restores these interactors and their targets to normal levels. Our results demonstrate that dosage sensitivity does not always signify a linear relationship with protein abundance but can involve distinct mechanisms. We propose that to understand the functions of RNA‐binding proteins in a physiological context will require studying their interactions as well as their targets." @default.
• W4366239106 created "2023-04-20" @default.
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• W4366239106 date "2023-04-18" @default.
• W4366239106 modified "2023-10-09" @default.
• W4366239106 title "Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms" @default.
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• W4366239106 doi "https://doi.org/10.15252/embj.2022112721" @default.
• W4366239106 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37070548" @default.
• W4366239106 hasPublicationYear "2023" @default.

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