NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression

Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disease with a high lethality rate in infants. Variants in the homologous genes survival of motor neuron (SMN)1 and SMN2 have been reported to be SMA pathogenic factors. Previous studies showed that a high inclusion rate of SMN2 exon 7...

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Detalles Bibliográficos
Autores principales: Du, Li-Li, Sun, Jun-Jie, Chen, Zhi-Heng, Shao, Yi-Xiang, Wu, Liu-Cheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120702/
https://www.ncbi.nlm.nih.gov/pubmed/35535907
http://dx.doi.org/10.4103/1673-5374.339005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120702/
https://www.ncbi.nlm.nih.gov/pubmed/35535907
http://dx.doi.org/10.4103/1673-5374.339005

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