Article
Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 8 Sept 2010
Park Gyu-Hwan, Maeno-Hikichi Yuka, Awano Tomoyuki, Landmesser Lynn T, Monani Umrao R
Abstract excerpt
Spinal muscular atrophy (SMA) is a common (approximately 1:6400) autosomal recessive neuromuscular disorder caused by a paucity of the survival of motor neuron (SMN) protein. Although widely recognized to cause selective spinal motor neuron loss when deficient, the precise cellular site of action...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.