Article
Differential expression of normal and mutant Huntington's disease gene alleles.
Neurobiology of disease - 1 Jan 1996
Persichetti F, Carlee L, Faber P W, McNeil S M, Ambrose C M, Srinidhi J, Anderson M, Barnes G T, Gusella J F, MacDonald M E
Abstract excerpt
Huntingtin expression was examined by Western blot and immunoprecipitation studies of lymphoblastoid cell lines from Huntington's disease (HD) homozygotes, heterozygotes, and a phenotypically normal individual with a t(4p16.3;12p13.3) breakpoint in the HD gene. The latter produced a reduced level of normal huntingtin without evidence of an altered protein, indicating that simple loss of huntingtin activity does...
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