A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

doi:10.1038/s41467-021-23663-2

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Article

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

Nature communications - 7 Jun 2021

Gao Dadi, Morini Elisabetta, Salani Monica, Krauson Aram J, Chekuri Anil, Sharma Neeraj, Ragavendran Ashok, Erdin Serkan, Logan Emily M, Li Wencheng, Dakka Amal, Narasimhan Jana, Zhao Xin, Naryshkin Nikolai, Trotta Christopher R, Effenberger Kerstin A, Woll Matthew G, Gabbeta Vijayalakshmi, Karp Gary, Yu Yong, Johnson Graham, Paquette William D, Cutting Garry R, Talkowski Michael E, Slaugenhaupt Susan A

Abstract excerpt

Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing due to mutation lead to dysregulated protein expression and contribute to a substantial fraction of human disease. Several classes of splicing modulator compounds (SMCs) have been recently identified and establish that pre-mRNA splicing represents a target for therapy. We describe herein the identification of BPN-15477, a SMC...

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PMID: 34099697
DOI: 10.1038/s41467-021-23663-2
PMCID: PMC8185002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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