Title : Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.

Pub. Date : 2014 Jan

PMID : 24150945






1 Functional Relationships(s)
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1 In this study, we demonstrate that the c.-32-13T>G mutation abrogates the binding of the splicing factor U2AF65 to the polypyrimidine tract of exon 2 and that several splicing factors affect exon 2 inclusion, although the only factor capable of acting in the c.-32-13 T>G context is the SR protein family member, SRSF4 (SRp75). polypyrimidine U2 small nuclear RNA auxiliary factor 2 Homo sapiens