Publications by authors named "Jacob W Lay"
Article Synopsis
- - Duchenne muscular dystrophy (DMD) is a genetic condition linked to mutations that hinder the creation of a vital protein called dystrophin, with exon duplications, especially in exon 2, being common mutations.
- - An exon-skipping treatment targeting these Dup2 mutations shows promise, as it can lead to the production of a functional form of dystrophin, potentially improving muscle health.
- - Research on a specific treatment using a vector in Dup2 mouse models has demonstrated lasting dystrophin expression and improved muscle function for up to 18 months post-treatment, indicating its long-term efficacy.
Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of motor and cardiorespiratory function. Four exon-skipping approaches using antisense phosphorodiamidate morpholino oligomers (PMOs) have been approved by the FDA to restore a open reading frame, resulting in expression of a functional but internally deleted dystrophin protein, but in patients with single-exon duplications, exon skipping has the potential to restore full-length dystrophin expression. Cell-penetrating peptide-conjugated PMOs (PPMOs) have demonstrated enhanced cellular uptake and more efficient dystrophin restoration than unconjugated PMOs.
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