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rbm17

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https://www.readbyqxmd.com/read/28007900/extensive-cryptic-splicing-upon-loss-of-rbm17-and-tdp43-in-neurodegeneration-models
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Qiumin Tan, Hari Krishna Yalamanchili, Jeehye Park, Antonia De Maio, Hsiang-Chih Lu, Ying-Wooi Wan, Joshua J White, Vitaliy V Bondar, Layal S Sayegh, Xiuyun Liu, Yan Gao, Roy V Sillitoe, Harry T Orr, Zhandong Liu, Huda Y Zoghbi
Splicing regulation is an important step of post-transcriptional gene regulation. It is a highly dynamic process orchestrated by RNA-binding proteins (RBPs). RBP dysfunction and global splicing dysregulation have been implicated in many human diseases, but the in vivo functions of most RBPs and the splicing outcome upon their loss remain largely unexplored. Here we report that constitutive deletion of Rbm17, which encodes an RBP with a putative role in splicing, causes early embryonic lethality in mice and that its loss in Purkinje neurons leads to rapid degeneration...
December 1, 2016: Human Molecular Genetics
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