Drosophila SMN2 minigene reporter model identifies moxifloxacin as a candidate therapy for SMA

Abstract excerpt

Spinal muscular atrophy is a rare and fatal neuromuscular disorder caused by the loss of alpha motor neurons. The affected individuals have mutated the ubiquitously expressed SMN1 gene resulting in the loss or reduction in the survival motor neuron (SMN) protein levels. However, an almost identical paralog exists in humans: SMN2. Pharmacological activation of SMN2 exon 7 inclusion by small molecules or modified...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Neurogenetic and Muscular Disorders Research
• Share to RNA modifications and cancer