title: Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP.
abstract: Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene were recently found to be associated with Alexander disease. We examined the functional effect of such mutations, and observed a decrease in GFAP dimerization. This effect behaves in a dominant fashion and points towards a potential mechanism in pathogenesis.
authors.affiliation: Department of Human Genetics, The Bartholin Building, University of Aarhus, DK-8000 Aarhus C, Denmark. aln@mbio.aau.dk
authors.forename: Anders L
authors.initials: AL
authors.lastname: Nielsen
authors.forename: Poul
authors.initials: P
authors.lastname: Jørgensen
authors.forename: Arne L
authors.initials: AL
authors.lastname: Jørgensen
mesh_terms: D038261:Alexander Disease / Q000235:genetics* / Q000378:metabolism; D015153:Blotting, Western; D019281:Dimerization; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007382:Intermediate Filaments / Q000648:ultrastructure; D009154:Mutation; D020798:Two-Hybrid System Techniques
chemical_list: D005904:Glial Fibrillary Acidic Protein