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Comment
. 2018 Sep 20;175(1):40-42.
doi: 10.1016/j.cell.2018.08.059.

Human Diseases from Gain-of-Function Mutations in Disordered Protein Regions

Xiao-Han Li  1 , M Madan Babu  2
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Comment

Human Diseases from Gain-of-Function Mutations in Disordered Protein Regions

Xiao-Han Li et al. Cell. .
Free article

Abstract

Although there is much focus on the impact of mutations on structured protein domains, less is known about their impact on unstructured regions. In this issue, Meyer et al. demonstrate that mutations resulting in the emergence of new short linear peptide motifs within intrinsically disordered protein regions can cause human genetic diseases by gain of function.

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  • Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
    Meyer K, Kirchner M, Uyar B, Cheng JY, Russo G, Hernandez-Miranda LR, Szymborska A, Zauber H, Rudolph IM, Willnow TE, Akalin A, Haucke V, Gerhardt H, Birchmeier C, Kühn R, Krauss M, Diecke S, Pascual JM, Selbach M. Meyer K, et al. Cell. 2018 Sep 20;175(1):239-253.e17. doi: 10.1016/j.cell.2018.08.019. Epub 2018 Sep 6. Cell. 2018. PMID: 30197081

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