JCI early table of contents for April 15, 2013
Researchers untangle molecular pathology of giant axonal neuropathy
Giant axonal neuropathy (GAN) is a rare genetic disorder that causes central and peripheral nervous system dysfunction. GAN is known to be caused by mutations in the gigaxonin gene and is characterized by tangling and aggregation of neural projections, but the mechanistic link between the genetic mutation and the effects on neurons is unclear. In this issue of the Journal of Clinical Investigation, Robert Goldman and colleagues at Northwestern University uncover how mutations in gigaxonin contribute ...