Article
Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes.
The Journal of clinical investigation - 2 Jul 2018
Rodriguez-Muela Natalia, Parkhitko Andrey, Grass Tobias, Gibbs Rebecca M, Norabuena Erika M, Perrimon Norbert, Singh Rajat, Rubin Lee L
Abstract excerpt
Spinal muscular atrophy (SMA), a degenerative motor neuron (MN) disease, caused by loss of functional survival of motor neuron (SMN) protein due to SMN1 gene mutations, is a leading cause of infant mortality. Increasing SMN levels ameliorates the disease phenotype and is unanimously accepted as a therapeutic approach for patients with SMA. The ubiquitin/proteasome system is known to regulate SMN protein levels;...
Topics
- Animals
- Autophagy
- Cells, Cultured
- Disease Models, Animal
- Gene Knockdown Techniques
- HEK293 Cells
- Humans
- Mice
- Mice, Inbred C57BL
- Mice, Knockout
- Motor Neurons