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

Xiao-Han Li; M. Madan Babu

doi:10.1016/j.cell.2018.08.059

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

Xiao-Han Li (Lead / Corresponding author), M. Madan Babu (Lead / Corresponding author)

Molecular Cell and Developmental Biology

Research output: Contribution to journal › Short survey › peer-review

19 Citations (Scopus)

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. 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.

Original language	English
Pages (from-to)	40-42
Number of pages	3
Journal	Cell
Volume	175
Issue number	1
Early online date	20 Sept 2018
DOIs	https://doi.org/10.1016/j.cell.2018.08.059
Publication status	Published - 20 Sept 2018

ASJC Scopus subject areas

General Biochemistry,Genetics and Molecular Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.cell.2018.08.059Licence: Elsevier User Licence

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

Abstract

ASJC Scopus subject areas

UN SDGs

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