Article

Mutations in disordered regions cause disease by creating endocytosis motifs

2017-05-24

Abstract excerpt

Mutations in intrinsically disordered regions (IDRs) of proteins can cause a wide spectrum of diseases. Since IDRs lack a fixed three-dimensional structure, the mechanism by which such mutations cause disease is often unknown. Here, we employ a proteomic screen to investigate the impact of mutations in IDRs on protein-protein interactions. We find that mutations in disordered cytosolic regions of three transmembra...

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Literature Corpus work: 8ee55dcb-f52e-5056-aac3-8cf3d0d95f8e
DOI: 10.1101/141622

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