High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts

• Main Authors: Wijaya, Yogik Onky Silvana, Niba, Emma Tabe Eko, Nishio, Hisahide, Okamoto, Kentaro, Awano, Hiroyuki, Saito, Toshio, Takeshima, Yasuhiro, Shinohara, Masakazu
• Format: Article PeerReviewed
• Language: English
• Published: MDPI 2022
• Subjects: Medical Biochemistry and Metabolomics
• Online Access: https://repository.ugm.ac.id/279049/1/High-Concentration-or-Combined-Treatment-of-Antisense-Oligonucleotides-for-Spinal-Muscular-Atrophy-Perturbed-SMN2-Splicing-in-Patient-FibroblastsGenes.pdf; https://repository.ugm.ac.id/279049/; https://www.mdpi.com/2073-4425/13/4/685; https://doi.org/10.3390/genes13040685
• Institution: Universitas Gadjah Mada

Spinal muscular atrophy (SMA) is caused by survival motor neuron 1 SMN1 deletion. The survival motor neuron 2 (SMN2) encodes the same protein as SMN1 does, but it has a splicing defect of exon 7. Some antisense oligonucleotides (ASOs) have been proven to correct this defect. One of these, nusinersen...