Ontology highlight
ABSTRACT:
SUBMITTER: Winkelsas AM
PROVIDER: S-EPMC7851419 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Winkelsas Audrey M AM Grunseich Christopher C Harmison George G GG Chwalenia Katarzyna K Rinaldi Carlo C Hammond Suzan M SM Johnson Kory K Bowerman Melissa M Arya Sukrat S Talbot Kevin K Wood Matthew J MJ Fischbeck Kenneth H KH
Molecular therapy. Nucleic acids 20210105
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations in the survival motor neuron 1 (<i>SMN1</i>) gene. All patients have at least one copy of a paralog, <i>SMN2</i>, but a C-to-T transition in this gene results in exon 7 skipping in a majority of transcripts. Approved treatment for SMA involves promoting exon 7 inclusion in the <i>SMN2</i> transcript or increasing the amount of full-length SMN by gene replacement with a viral vector. Increasing the pool of <i>SMN2</i> t ...[more]