Short Communication |
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| Authors: | ANDERS L. NIELSEN POUL JØRGENSEN ARNE L. JØRGENSEN |
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| Affiliation: | 1. Department of Human Genetics, The Bartholin Building, C.F.M?llers allé 130, University of Aarhus, DK-8000 Aarhus C, Denmark;2. Department of Molecular Biology, C.F.M?llers allé 130, University of Aarhus, DK-8000 Aarhus C, Denmark |
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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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