Article
Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology.
Human molecular genetics - 1 Jul 2014
Bowerman Melissa, Michalski John-Paul, Beauvais Ariane, Murray Lyndsay M, DeRepentigny Yves, Kothary Rashmi
Abstract excerpt
Spinal muscular atrophy (SMA) is characterized by motor neuron loss, caused by mutations or deletions in the ubiquitously expressed survival motor neuron 1 (SMN1) gene. We recently identified a novel role for Smn protein in glucose metabolism and pancreatic development in both an intermediate SMA mouse model (Smn(2B/-)) and type I SMA patients. In the present study, we sought to determine if the observed...
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