Article

Dosage sensitivity in Pumilio1-related phenotypes reflects distinct disease mechanisms

2021-03-12

Abstract excerpt

Mutations in the RNA-binding protein (RBP) Pumilio1 (PUM1) can cause dramatically different phenotypes. We previously noted that phenotypic severity tracked with protein dosage: a mild mutation that reduces PUM1 levels by 25% causes late-onset ataxia, whereas PUM1 haploinsufficiency causes developmental delay and seizures. Why this difference in expression should cause such different phenotypes has been unclear: P...

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Literature Corpus work: d54c4fe0-4208-51f3-8258-091f61852bc8
DOI: 10.1101/2021.03.11.435015

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