Cellular models
- Absence of p.R50X Pygm read-through in McArdle disease cellular models
Summary: Here, we evaluated the efficiency of different read-through agents in McArdle disease cell culture models, revealing that read-through compounds do not restore full-length muscle glycogen phosphorylase.
- Therapeutic strategies for spinal muscular atrophy: SMN and beyond
Summary: Translational research for spinal muscular atrophy (SMA) should address the development of non-CNS and survival motor neuron (SMN)-independent therapeutic approaches to complement and enhance the benefits of CNS-directed and SMN-dependent therapies.