| Product description |
Huntington's disease (HD) is an autosomal dominant neurological disorder caused by a polyglutamine (polyQ) repeat expansion in the huntingtin (Htt) protein. The disease is characterized by neurodegeneration and formation of neuronal intracellular inclusions primarily in the striatum and cortex, leading to personality changes, motor impairment, and dementia. The Huntington’s disease protein is ~350 kDa in size and is localized in the brain.1) Huntington's disease: from pathology and genetics to potential therapies. Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, Krishna G, Davies JE, Ttofi E, Underwood BR, Rubinsztein DC. Biochem J. 2008 Jun 1;412(2):191-209 |