LNA/DNA mixmer-based antisense oligonucleotides correct alternative splicing of the SMN2 gene and restore SMN protein expression in type 1 SMA fibroblasts

Spinal muscular atrophy (SMA) is an autosomal recessive disorder affecting motor neurons, and is currently the most frequent genetic cause of infant mortality. SMA is caused by a loss-of-function mutation in the survival motor neuron 1 (SMN1) gene. SMN2 is an SMN1 paralogue, but cannot compensate fo...

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Detalles Bibliográficos
Autores principales: Touznik, Aleksander, Maruyama, Rika, Hosoki, Kana, Echigoya, Yusuke, Yokota, Toshifumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473822/
https://www.ncbi.nlm.nih.gov/pubmed/28623256
http://dx.doi.org/10.1038/s41598-017-03850-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473822/
https://www.ncbi.nlm.nih.gov/pubmed/28623256
http://dx.doi.org/10.1038/s41598-017-03850-2

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