Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: Tracy Hagemann
PROVIDER: E-GEOD-977 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Human molecular genetics 20050713 16
Alexander disease is a fatal neurodegenerative disorder resulting from missense mutations of the intermediate filament protein, GFAP. The pathological hallmark of this disease is the formation of cytoplasmic protein aggregates within astrocytes known as Rosenthal fibers. Transgenic mice engineered to over-express wild-type human GFAP develop an encephalopathy with identical aggregates, suggesting that elevated levels of GFAP in addition to mutant protein contribute to the pathogenesis of this di ...[more]