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Publication : Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.

First Author  Trottier Y Year  1995
Journal  Nat Genet Volume  10
Issue  1 Pages  104-10
PubMed ID  7647777 Mgi Jnum  J:24940
Mgi Id  MGI:72655 Doi  10.1038/ng0595-104
Citation  Trottier Y, et al. (1995) Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form [see comments]. Nat Genet 10(1):104-10
abstractText  Huntington's disease (HD) results from the expansion of a polyglutamine encoding CAG repeat in a gene of unknown function. The wide expression of this transcript does not correlate with the pattern of neuropathology in HD. To study the HD gene product (huntingtin), we have developed monoclonal antibodies raised against four different regions of the protein. On western blots, these monoclonals detect the approximately 350 kD huntingtin protein in various human cell lines and in neural and non-neural rodent tissues. In cell lines from HD patients, a doublet protein is detected corresponding to the mutated and normal huntingtin. Immunohistochemical studies in the human brain using two of these antibodies detects the huntingtin in perikarya of some neurons, neuropiles, varicosities and as punctate staining likely to be nerve endings.
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