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XLOS-Observed Mutations of MID1 Bbox1 Domain Cause Domain Unfolding
MID1 catalyzes the ubiquitination of the protein alpha4 and the catalytic subunit of protein phosphatase 2A. Mutations within the MID1 Bbox1 domain are associated with X-linked Opitz G syndrome (XLOS). Our functional assays have shown that mutations of Ala130 to Val or Thr, Cys142 to Ser and Cys145...
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| Главные авторы: | , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Public Library of Science
2014
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4162623/ https://ncbi.nlm.nih.gov/pubmed/25216264 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0107537 |
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