Article

PURA Syndrome-causing mutations impair PUR-domain integrity and affect P-body association

2023-09-20

Abstract excerpt

Mutations in the human PURA gene cause the neuro-developmental PURA syndrome. In contrast to several other mono-genetic disorders, almost all reported mutations in this nucleic acid binding protein result in the full disease penetrance. In this study, we observed that patient mutations across PURA impair its previously reported co-localization with processing bodies. These mutations either destroyed the folding i...

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Literature Corpus work: e94ed933-f34e-5d85-a669-283b46153976
DOI: 10.1101/2023.09.19.558386

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