Huntington's disease |
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| Affiliation: | 1. Dept. of Biotechnologies and Life Sciences (DBSV), University of Insubria, via L. Manara 7, 21052 Busto Arsizio, Varese, Italy;2. Anatomic Pathology Unit, Dept. of Surgical and Morphological Sciences, University of Insubria, Via O. Rossi 9, 21100, Varese, Italy;3. EPIGET - Epidemiology, Epigenetics and Toxicology Lab - Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Via S: Barnaba, 8, 20122 Milan, Italy;4. Production of monoclonal and polyclonal antibodies, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Rue L. Fries, 1 - Illkirch Cedex, - 67400 Strasbourg, France;5. Département de Biologie du Cancer, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire) (UMR 7104 CNRS, U596 INSERM, ULP), Rue L. Fries, 1 - Illkirch Cedex, - 67400 Strasbourg, France;1. Institute of Theoretical and Experimental Biophysics RAS, 142290 Pushchino, Moscow Region, Russia;2. University of Helsinki, Helsinki, POB 56 Biocenter 1, FIN-00014 Finland;3. Al-Farabi Kazakh National University, 050040 Almaty, Kazakhstan;1. Neuroproteomics, Max Delbrueck Center for Molecular Medicine, Robert-Rössle-Straße 10, 13125 Berlin, Germany;2. Mathematical Modelling of Cellular Processes, Max Delbrueck Center for Molecular Medicine, Robert-Rössle-Straße 10, 13125 Berlin, Germany;3. Max-Planck-Institut für Kohlenforschung, Kaiser-Wilhelm-Platz 2, 45470 Mülheim an der Ruhr, Germany;4. Computational Biochemistry, University Duisburg-Essen, Universitätsstr. 2, 45141 Essen, Germany;1. REQUIMTE/LAQV, Department of Drug Sciences, Faculty of Pharmacy, University of Porto, Porto, Portugal;2. Department of Cell and Developmental Biology, University College London, London WC1E 6BT, UK |
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| Abstract: | Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat at the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife onset. The biochemical basis for the specific neuronal loss of HD remains uncertain, but the genetic lesion probably acts via its consequent polyglutamine segment in the protein product, huntingtin. This review will describe the basic parameters of the HD repeat's behavior and the knowledge that has accumulated concerning its potential mechanisms of action. |
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