Mutations associated with a childhood leukodystrophy,Alexander disease,cause deficiency in dimerization of the cytoskeletal protein GFAP |
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| Authors: | Nielsen Anders L Jørgensen Poul Jørgensen Arne L |
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| Affiliation: | Department of Human Genetics, The Bartholin Building, University of Aarhus, DK-8000 Aarhus C, Denmark. aln@mbio.aau.dk |
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| 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. |
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