Article

Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including <i>SYNGAP1</i>

2022-07-16

Abstract excerpt

Alternative splicing of neuronal genes is controlled in part by the coordinated action of the polypyrimidine tract binding proteins (PTBP1 and PTBP2). While PTBP1 is ubiquitously expressed, PTBP2 is predominantly neuronal, controlling the expression of such targets as DLG4 , which encodes PSD95, a protein important in synaptic function whose deficiency causes neurodevelopmental disorders. Here, we fully define th...

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Literature Corpus work: cb561dc5-f98f-5096-91e3-918f743e8727
DOI: 10.1101/2022.07.15.500219

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