title: Molecular biology of Huntington's disease.
abstract: It has been more than 17 years since the causative mutation for Huntington's disease was discovered as the expansion of the triplet repeat in the N-terminal portion of the Huntingtin (HTT) gene. In the intervening time, researchers have discovered a great deal about Huntingtin's involvement in a number of cellular processes. However, the role of Huntingtin in the key pathogenic mechanism leading to neurodegeneration in the disease process has yet to be discovered. Here, we review the body of knowledge that has been uncovered since gene discovery and include discussions of the HTT gene, CAG triplet repeat expansion, HTT expression, protein features, posttranslational modifications, and many of its known protein functions and interactions. We also highlight potential pathogenic mechanisms that have come to light in recent years.
authors.affiliation: Department of Neurology, University of Florida, Gainesville, FL 32610-0236, USA. karen.mcfarland@neurology.ufl.edu
authors.forename: Karen N
authors.initials: KN
authors.lastname: McFarland
authors.forename: Jang-Ho J
authors.initials: JH
authors.lastname: Cha
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D049672:History, 19th Century; D006801:Humans; D006816:Huntington Disease / Q000453:epidemiology / Q000235:genetics* / Q000266:history; D008967:Molecular Biology; D009419:Nerve Tissue Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D009419:Nerve Tissue Proteins