Publications by authors named "Rebecca Servais"
Spinal muscular atrophy (SMA), a rare neuromuscular disorder, is the leading genetic cause of death in infants and toddlers. SMA is caused by the deletion or a loss of function mutation of the survival motor neuron 1 (SMN1) gene. In humans, a second closely related gene SMN2 exists; however it codes for a less stable SMN protein.
View Article and Find Full Text PDFArticle Synopsis
- Spinal muscular atrophy (SMA) is a severe genetic disorder caused by the loss of the SMN1 gene, leading to high pediatric mortality rates.
- A small-molecule enhancer that improves SMN2 splicing was discovered, increasing the production of a stable full-length SMN protein and improving survival in a mouse model of severe SMA.
- The mechanism works by stabilizing a specific RNA structure in the SMN2 pre-mRNA, which boosts the binding of RNA processing components in a targeted way, suggesting potential for similar treatments in other splicing-related diseases.