Proteins carrying (CAG)n repeat expansions are believed to cause neurological diseases such as Huntington Disease through their toxic gain-of-function. It may be, however, that loss of normal protein function can also contribute to pathogenesis.
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Prospero, N., Tagle, D. Normal and mutant huntingtin: Partners in crime?. Nat Med 6, 1208–1209 (2000). https://doi.org/10.1038/81294
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DOI: https://doi.org/10.1038/81294
