Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy

• Main Authors: Audrey M. Winkelsas (Author), Christopher Grunseich (Author), George G. Harmison (Author), Katarzyna Chwalenia (Author), Carlo Rinaldi (Author), Suzan M. Hammond (Author), Kory Johnson (Author), Melissa Bowerman (Author), Sukrat Arya (Author), Kevin Talbot (Author), Matthew J. Wood (Author), Kenneth H. Fischbeck (Author)
• Format: Book
• Published: Elsevier, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene. All patients have at least one copy of a paralog, SMN2, but a C-to-T transition in this gene results in exon 7 skipping in a majority of transcripts. Approved treatment for SMA i...