The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alphaB-crystallin and HSP27d
Article Abstract:
The effects of the mutation, R416W, on glial fibrillary acidic protein (GFAP) assembly are described and R416W GFAP mutant is used to identify the early events in the development of Alexander disease, which is a rare and fatal neurodegenerative disorder. The monoclonal bodies specific for R416W GFAP have revealed the presence of the mutant protein in the characteristic histopathological feature of the disease, namely Rosenthal fibers and the effects of the R416W GFAP are found to be dominant.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs
Article Abstract:
A creation of a novel model system to determine the mechanism of mutations in carbamyl phosphate synthetase 1 (CPS1) is reported. While this model system could be employed to test any sequence change, its size capabilities make it particularly useful for assaying mutations that affect RNA processing.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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