Article
Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin.
Proceedings of the National Academy of Sciences of the United States of America - 14 May 1996
Bao J, Sharp A H, Wagster M V, Becher M, Schilling G, Ross C A, Dawson V L, Dawson T M
Abstract excerpt
Huntington's disease (HD) is an inherited neurodegenerative disorder associated with expansion of a CAG repeat in the IT15 gene. The IT15 gene is translated to a protein product termed huntingtin that contains a polyglutamine (polyGln) tract. Recent investigations indicate that the cause of HD is expansion of the polyGln tract. However, the function of huntingtin and how the expanded polyGln tract causes HD is...
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