Article
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts.
Molecular biology of the cell - 15 Feb 2016
Lowery Jason, Jain Nikhil, Kuczmarski Edward R, Mahammad Saleemulla, Goldman Anne, Gelfand Vladimir I, Opal Puneet, Goldman Robert D
Abstract excerpt
Giant axonal neuropathy (GAN) is a rare disease caused by mutations in the GAN gene, which encodes gigaxonin, an E3 ligase adapter that targets intermediate filament (IF) proteins for degradation in numerous cell types, including neurons and fibroblasts. The cellular hallmark of GAN pathology is the formation of large aggregates and bundles of IFs. In this study, we show that both the distribution and motility of...
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