Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

Abstract excerpt

The autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of survival motor neuron (SMN) protein; however, it is unclear how reduced SMN promotes SMA development. Here, we determined that ubiquitin-dependent pathways regulate neuromuscular pathology in SMA. Using mouse models of SMA, we observed widespread perturbations in ubiquitin homeostasis, including reduced...

Topics

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

• Share to Cancer-related gene regulation
• Share to Neurogenetic and Muscular Disorders Research
• Share to RNA modifications and cancer