Article

NOVA1 Promotes SMN2 Exon 7 Splicing via Binding the UCAC Motif and Increases SMN Protein Expression

2021-08-12

Abstract excerpt

<title>Abstract</title> <p>Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disease with high lethality rate in infants. Homologous genes <italic>SMN1</italic> and <italic>SMN2</italic> were reported to be SMA pathogenic factors. Studies showed that high inclusion of SMN2 exon 7 increased SMN expression which in turn ameliorated the severity of SMA. The inclusion rate of SMN2 exon 7 was higher in...

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Literature Corpus work: 3804e6c9-d736-59bf-a604-122bd1cc52fa
DOI: 10.21203/rs.3.rs-798194/v1

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