Disease-specific accumulation of mutant ubiquitin as a marker for proteasomal dysfunction in the brain.

@article{Fischer2003DiseasespecificAO,
  title={Disease-specific accumulation of mutant ubiquitin as a marker for proteasomal dysfunction in the brain.},
  author={David F. Fischer and Rob de Vos and Renske van Dijk and Femke M.S. de Vrij and Evelien A Proper and Marc A F Sonnemans and Marian C. Verhage and Jacqueline A. Sluijs and Barbara Hobo and Mohamed Zouambia and Ernst N. H. Jansen Steur and Wouter Kamphorst and Elly M. Hol and Fred van Leeuwen},
  journal={FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
  year={2003},
  volume={17 14},
  pages={
          2014-24
        }
}
Molecular misreading of the ubiquitin-B (UBB) gene results in a dinucleotide deletion in UBB mRNA. The resulting mutant protein, UBB+1, accumulates in the neuropathological hallmarks of Alzheimer disease. In vitro, UBB+1 inhibits proteasomal proteolysis, although it is also an ubiquitin fusion degradation substrate for the proteasome. Using the ligase chain reaction to detect dinucleotide deletions, we report here that UBB+1 transcripts are present in each neurodegenerative disease studied… CONTINUE READING
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