Unique phosphorylation of vimentin filaments in glomerular epithelial cells in culture and in disease |
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Authors: | R Nagasawa K Kanozawa T Mitarai M Inagaki N Maruyama |
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Affiliation: | Department of Neurology, Institute for Brain Research, Faculty of Medicine, University of Tokyo, Japan. |
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Abstract: | Three cDNA clones for the Machado-Joseph disease gene (MJD1) were isolated, two of which have a new exon sequence and a distinct 3' terminal nucleotide sequence resulting in a new carboxyl terminal domain in the translated product. The nucleotide sequence of the other one is similar to the previously published one except for five polymorphisms, one of which is a single nucleotide substitution resulting in a change from the stop codon (TAA; allele A) to a tyrosine residue (TAC; allele C). Genetic analysis results suggest that Japanese MJD mutations are associated with allele A. |
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