Matches in SemOpenAlex for { <https://semopenalex.org/work/W1486459695> ?p ?o ?g. }
- W1486459695 endingPage "418" @default.
- W1486459695 startingPage "373" @default.
- W1486459695 abstract "Huntington's disease (HD) is an autosomal dominant, progressive neurodegenerative disorder presenting in midlife. Multiple pathogenic mechanisms which hypothesise how the expanded CAG repeat causes manifest disease have been suggested since the mutation was first detected. These mechanisms include events that operate at both the gene and protein levels. It has been proposed that somatic instability of the CAG repeat could underlie the striatal-specific pathology observed in HD, although how this occurs and what consequences this has in the disease state remain unknown. The form in which the Htt protein exists within the cell has been extensively studied in terms of both its role in aggregate formation and its cellular processing. Protein-protein interactions, post-translational modifications and protein cleavage have all been suggested to contribute to HD pathogenesis. The potential downstream effects of the mutant Htt protein are also noted here. In particular, the adverse effect of the mutant Htt protein on cellular protein degradation, subcellular transport and transcription are explored, and its role in energy metabolism and excitotoxicity investigated. Elucidating the mechanisms at work in HD pathogenesis and determining when they occur in relation to disease is an important step in the pathway to therapeutic interventions." @default.
- W1486459695 created "2016-06-24" @default.
- W1486459695 creator A5019482851 @default.
- W1486459695 creator A5065920088 @default.
- W1486459695 date "2011-01-01" @default.
- W1486459695 modified "2023-09-25" @default.
- W1486459695 title "Pathogenic Mechanisms in Huntington's Disease" @default.
- W1486459695 cites W1481321944 @default.
- W1486459695 cites W1484276963 @default.
- W1486459695 cites W1486617476 @default.
- W1486459695 cites W1494838067 @default.
- W1486459695 cites W1522901791 @default.
- W1486459695 cites W1532930401 @default.
- W1486459695 cites W1561540396 @default.
- W1486459695 cites W1565788467 @default.
- W1486459695 cites W1584816388 @default.
- W1486459695 cites W1643390591 @default.
- W1486459695 cites W1651597776 @default.
- W1486459695 cites W1809261872 @default.
- W1486459695 cites W1937607074 @default.
- W1486459695 cites W1949056714 @default.
- W1486459695 cites W1963552002 @default.
- W1486459695 cites W1964372470 @default.
- W1486459695 cites W1964752963 @default.
- W1486459695 cites W1965479103 @default.
- W1486459695 cites W1965492289 @default.
- W1486459695 cites W1966985989 @default.
- W1486459695 cites W1967015107 @default.
- W1486459695 cites W1968327772 @default.
- W1486459695 cites W1968469766 @default.
- W1486459695 cites W1968918423 @default.
- W1486459695 cites W1970254771 @default.
- W1486459695 cites W1970732501 @default.
- W1486459695 cites W1970814720 @default.
- W1486459695 cites W1971242889 @default.
- W1486459695 cites W1972378799 @default.
- W1486459695 cites W1972735052 @default.
- W1486459695 cites W1972771185 @default.
- W1486459695 cites W1973523024 @default.
- W1486459695 cites W1973765221 @default.
- W1486459695 cites W1974383579 @default.
- W1486459695 cites W1974897920 @default.
- W1486459695 cites W1975501457 @default.
- W1486459695 cites W1975619723 @default.
- W1486459695 cites W1977383752 @default.
- W1486459695 cites W1978049342 @default.
- W1486459695 cites W1978104052 @default.
- W1486459695 cites W1978776432 @default.
- W1486459695 cites W1979999423 @default.
- W1486459695 cites W1982138826 @default.
- W1486459695 cites W1982170400 @default.
- W1486459695 cites W1982623268 @default.
- W1486459695 cites W1982792716 @default.
- W1486459695 cites W1983435592 @default.
- W1486459695 cites W1983892282 @default.
- W1486459695 cites W1984434130 @default.
- W1486459695 cites W1985474993 @default.
- W1486459695 cites W1985911487 @default.
- W1486459695 cites W1986594553 @default.
- W1486459695 cites W1989387017 @default.
- W1486459695 cites W1989507218 @default.
- W1486459695 cites W1991311491 @default.
- W1486459695 cites W1991714330 @default.
- W1486459695 cites W1992150557 @default.
- W1486459695 cites W1992516982 @default.
- W1486459695 cites W1993470377 @default.
- W1486459695 cites W1993938423 @default.
- W1486459695 cites W1995181798 @default.
- W1486459695 cites W1995354490 @default.
- W1486459695 cites W1995847434 @default.
- W1486459695 cites W1996139980 @default.
- W1486459695 cites W1996592124 @default.
- W1486459695 cites W1996789718 @default.
- W1486459695 cites W1997204401 @default.
- W1486459695 cites W1997369314 @default.
- W1486459695 cites W1997555550 @default.
- W1486459695 cites W1998237974 @default.
- W1486459695 cites W1998974178 @default.
- W1486459695 cites W1999783230 @default.
- W1486459695 cites W2001380351 @default.
- W1486459695 cites W2001597502 @default.
- W1486459695 cites W2004070915 @default.
- W1486459695 cites W2004969253 @default.
- W1486459695 cites W2005927762 @default.
- W1486459695 cites W2006764478 @default.
- W1486459695 cites W2006808229 @default.
- W1486459695 cites W2007945544 @default.
- W1486459695 cites W2009979848 @default.
- W1486459695 cites W2010487001 @default.
- W1486459695 cites W2010559308 @default.
- W1486459695 cites W2011838167 @default.
- W1486459695 cites W2012015119 @default.
- W1486459695 cites W2014268728 @default.
- W1486459695 cites W2014400669 @default.
- W1486459695 cites W2014486882 @default.
- W1486459695 cites W2015419750 @default.
- W1486459695 cites W2016460575 @default.
- W1486459695 cites W2016726039 @default.