Litcius/Paper detail

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

Audrey M. Winkelsas, Christopher Grunseich, George G. Harmison, Katarzyna Chwalenia, Carlo Rinaldi, Suzan M. Hammond, Kory Johnson, Mélissa Bowerman, Sukrat Arya, Kevin Talbot, Matthew J. A. Wood, Kenneth H. Fischbeck

2021Molecular Therapy — Nucleic Acids20 citationsDOIOpen Access PDF

Abstract

mRNA decay. Moreover, use of the 5' UTR ASO in combination with a splice-switching oligonucleotide (SSO) increases SMN levels above those attained with the SSO alone. Our results add to the current understanding of SMN regulation and point toward a new therapeutic target for SMA.

Topics & Concepts

SMN1Spinal muscular atrophyExonSMA*Untranslated regionFive prime untranslated regionRNA splicingBiologyAlternative splicingGeneThree prime untranslated regionMessenger RNAMolecular biologyGeneticsRNAMathematicsCombinatoricsNeurogenetic and Muscular Disorders ResearchRNA modifications and cancerRNA Interference and Gene Delivery