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10.1073/pnas.1412743111

http://scihub22266oqcxt.onion/10.1073/pnas.1412743111
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C4267390!4267390!25422459
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suck abstract from ncbi


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pmid25422459      Proc+Natl+Acad+Sci+U+S+A 2014 ; 111 (49): 17420-5
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  • Structure-guided U2AF65 variant improves recognition and splicing of a defective pre-mRNA #MMPMID25422459
  • Agrawal AA; McLaughlin KJ; Jenkins JL; Kielkopf CL
  • Proc Natl Acad Sci U S A 2014[Dec]; 111 (49): 17420-5 PMID25422459show ga
  • The essential U2AF65 protein recognizes a splice site signal that is frequently mutated in inherited human diseases. Herein we show that reduced U2AF65 binding is a molecular consequence of splice site mutations that commonly underlie human genetic disease. We demonstrate for a proof-of-principle case that structure-guided U2AF65 variants are a feasible tool to evoke disease-relevant changes in pre-mRNA splicing.
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  • suck abstract from ncbi

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