Human diseases from gain-of-function mutations in disordered protein regions

• Xiao-Han Li ^[1] ; M. Madan Babu ^[1]
  1. [1] MRC Laboratory of Molecular Biology

     MRC Laboratory of Molecular Biology

     Cambridge District, Reino Unido

     
• Localización: Cell, ISSN 0092-8674, Vol. 175, Nº. 1, 2018, págs. 40-42
• Idioma: inglés
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• Resumen

  • 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.