Article
The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP.
Molecular biology of the cell - 15 Dec 2016
Lin Ni-Hsuan, Huang Yu-Shan, Opal Puneet, Goldman Robert D, Messing Albee, Perng Ming-Der
Abstract excerpt
Alexander disease (AxD) is a primary genetic disorder of astrocytes caused by dominant mutations in the gene encoding the intermediate filament (IF) protein GFAP. This disease is characterized by excessive accumulation of GFAP, known as Rosenthal fibers, within astrocytes. Abnormal GFAP aggregation also occurs in giant axon neuropathy (GAN), which is caused by recessive mutations in the gene encoding gigaxonin....
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