Article
Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability.
Experimental cell research - 1 Oct 2011
Chen Yi-Song, Lim Suh-Ciuan, Chen Mei-Hsuan, Quinlan Roy A, Perng Ming-Der
Abstract excerpt
Alexander disease is a primary genetic disorder of astrocyte caused by dominant mutations in the astrocyte-specific intermediate filament glial fibrillary acidic protein (GFAP). While most of the disease-causing mutations described to date have been found in the conserved α-helical rod domain, some mutations are found in the C-terminal non-α-helical tail domain. Here, we compare five different mutations (N386I,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.