Ontology highlight
ABSTRACT:
SUBMITTER: Kwon DY
PROVIDER: S-EPMC3159550 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Kwon Deborah Y DY Motley William W WW Fischbeck Kenneth H KH Burnett Barrington G BG
Human molecular genetics 20110621 18
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by reduced levels of the survival motor neuron (SMN) protein. Here we show that the proteasome inhibitor, bortezomib, increases SMN in cultured cells and in peripheral tissues of SMA model mice. Bortezomib-treated animals had improved motor function, which was associated with reduced spinal cord and muscle pathology and improved neuromuscular junction size, but no change in survival. Combining bortezomib with the histone deacetylas ...[more]