Article

Polyalanine disease mutations impair UBA6-dependent ubiquitination

2022-06-20

Abstract excerpt

Expansion mutations in polyalanine stretches are now associated with a growing number of human diseases with common genotypes and similar phenotypes 1–6 . These similarities prompted us to query the normal function of physiological polyalanine stretches, and investigate whether a common molecular mechanism is involved in these diseases. Here, we show that UBA6, an E1 ubiquitin-activating enzyme 7, 8 , recognizes...

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Literature Corpus work: ae549093-15c7-5439-8f1f-3ea418af5f88
DOI: 10.1101/2022.06.20.496786

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