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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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Detalles Bibliográficos
Autores principales:	Wright, Katharine M., Wu, Kuanlin, Babatunde, Omotolani, Du, Haijuan, Massiah, Michael A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162623/ https://www.ncbi.nlm.nih.gov/pubmed/25216264 http://dx.doi.org/10.1371/journal.pone.0107537

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