Edited by: Paul Smaglik
M. DiFiglia, E. Sapp, K.O. Chase, S.W. Davies, G.P. Bates, J.P. Vonsattel, N. Aronin, "Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain," Science, 277:1990-3, 1997. (Cited in more than 200 papers since publication)
The pathogenic connection between huntingtin the protein and Huntington's the disease has eluded neurologists since 1993.1 Researchers discovered then that a wild-type huntingtin gene had 35 or fewer CAG repeats, but that a mutant form had 36 or more. How a few extra CAG repeats could cause the neurodegenerative disorder drove scientists to examine the relationship between the gene, the protein, and the disease.
Neil Aronin and Marian DiFiglia, professor of neurology at Massachusetts General Hospital in Boston explored that relationship by looking for the mutant protein...