A5088795653- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- RNA Research and Splicing
University of Edinburgh
2022
Abstract Background Spinal muscular atrophy (SMA) is a form of motor neuron disease affecting primarily children characterised by the loss lower neurons (MNs). Breakdown neuromuscular junctions (NMJs) an early pathological event in SMA. However, not all are equally vulnerable, with some populations being lost while others remain intact at end-stage. A thorough understanding basis this selective vulnerability will give critical insight into factors which prohibit pathology certain and...
Abstract Spinal muscular atrophy (SMA) is a childhood motor neuron disease caused by anomalies in the SMN1 gene. Although therapeutics have been approved for treatment of SMA, there therapeutic time window, after which efficacy reduced. Hallmarks unit pathology SMA include loss motor-neurons and neuromuscular junction (NMJs). Following an increase Smn levels, it unclear how much damage can be repaired degree to normal connections are re-established. Here, we perform detailed analysis before...