Article
At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression.
Current molecular medicine - 1 Aug 2013
Goulet B B, Kothary R, Parks R J
Abstract excerpt
Spinal muscular atrophy (SMA) is caused by mutations that reduce the level of the survival motor neuron protein (SMN) resulting in death of alpha-motor neurons, yet it is unclear why these cells are preferentially affected by a reduction in this ubiquitously-expressed protein. In mouse models of SMA, one of the earliest events detected is defects at the neuromuscular junction (NMJ). Although NMJs are established...
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