955
Views
22
CrossRef citations to date
0
Altmetric
Mini Review

Aggregation of Expanded Huntingtin in the Brains of Patients with Huntington Disease

, &
Pages 26-31 | Received 13 Feb 2007, Accepted 23 Feb 2007, Published online: 01 Mar 2007

References

  • The Huntington's disease collaborative research group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72:971 - 983
  • Gusella JF, MacDonald ME. Huntington's disease: Seeing the pathogenic process through a genetic lens. Trends Genet 2006; 31:533 - 540
  • Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 1997; 90:537 - 548
  • DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997; 277:1990 - 1993
  • Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 2004; 431:805 - 810
  • Bates G. Huntingtin aggregation and toxicity in Huntington's disease. Lancet 2003; 361:1642 - 1644
  • Hoffner G, Djian P. Protein aggregation in Huntington's disease. Biochimie 2002; 84:273 - 278
  • Green H. Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism. Cell 1993; 74:955 - 956
  • Perutz MF, Johnson T, Suzuki M, Finch JT. Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci USA 1994; 91:5355 - 5358
  • Stott K, Blackburn JM, Butler PJ, Perutz M. Incorporation of glutamine repeats makes protein oligomerize: Implication for neurodegenerative diseases. Proc Natl Acad Sci USA 1995; 92:6509 - 6513
  • Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, Bates GP. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 1996; 87:493 - 506
  • Scherzinger E, Lurz R, Turmaine M, Mangiarini L, Hollenbach B, Hasenbank R, Bates GP, Davies SW, Lehrach H, Wanker EE. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 1997; 90:549 - 558
  • Hazeki N, Tukamoto T, Goto J, Kanazawa I. Formic acid dissolves aggregates of an N-terminal huntingtin fragment containing an expanded polyglutamine tract: Applying to quantification of protein components of the aggregates. Biochem Biophys Res Commun 2000; 277:386 - 393
  • Perutz MF, Finch JT, Berriman J, Lesk A. Amyloid fibers are water-filled nanotubes. Proc Natl Acad Sci USA 2002; 99:5591 - 5595
  • Kahlem P, Terré C, Green H, Djian P. Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: Relevance to diseases of the nervous system. Proc Natl Acad Sci USA 1996; 93:14580 - 14585
  • Kahlem P, Green H, Djian P. Transglutaminase action imitates Huntington's disease: Selective polymerization of huntingtin containing expanded polyglutamine. Mol Cell 1998; 1:595 - 601
  • Igarashi S, Koide R, Shimohata T, Yamada M, Hayashi Y, Takano H, Date H, Oyake M, Sato T, Sato A, Egawa S, Ikeuchi T, Tanaka H, Nakano R, Tanaka K, Hozumi I, Inuzuka T, Takahashi H, Tsuji S. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 1998; 18:111 - 117
  • Lesort M, Chun W, Johnson GV, Ferrante RJ. Tissue transglutaminase is increased in Huntington's disease brain. J Neurochem 1999; 73:2018 - 2027
  • Karpuj MV, Becher MW, Springer JE, Chabas D, Youssef S, Pedotti R, Mitchell D, Steinman L. Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine. Nat Med 2002; 8:143 - 149
  • Bailey CD, Johnson GV. Tissue transglutaminase contributes to disease progression in the R6/2 Huntington's disease mouse model via aggregate-independent mechanisms. J Neurochem 2005; 92:83 - 92
  • Hoffner G, Djian P. Transglutaminase and diseases of the central nervous system. Frontiers Biosc 2005; 10:3078 - 3092
  • Chun W, Lesort M, Tucholski J, Ross CA, Johnson GV. Tissue transglutaminase does not contribute to the formation of mutant huntingtin aggregates. J Cell Biol 2001; 153:25 - 34
  • Gilad GM, Varon LE. Transglutaminase activity in rat brain: Characterization, distribution, and changes with age. J Neurochem 1985; 45:1522 - 1526
  • Kim SY, Grant P, Lee JH, Pant HC, Steinert PM. Differential expression of multiple transglutaminases in human brain. J Biol Chem 1999; 274:30715 - 30721
  • Lorand L. Neurodegenerative diseases and transglutaminase. Proc Natl Acad Sci USA 1996; 93:14310 - 14313
  • Hoffner G, Island ML, Djian P. Purification of neuronal inclusions of patients with Huntington disease reveals a broad range of N-terminal fragments of expanded huntingtin and insoluble polymers. J Neurochem 2005; 95:125 - 136
  • Gutekunst CA, Li SH, Yi H, Mulroy JS, Kuemmerle S, Jones R, Rye D, Ferrante RJ, Hersch SM, Li XJ. Nuclear and neuropil aggregates in Huntington's disease: Relationship to neuropathology. J Neurosci 1999; 19:2522 - 2534
  • Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995; 378:403 - 406
  • Mokrasch LC. Spontaneous incorporation of biogenic amines into purified proteolipid. Biochem Biophys Acta 1965; 107:608 - 610
  • Iuchi S, Hoffner G, Verbeke P, Djian P, Green H. Oligomeric and polymeric aggregates formed by proteins containing expanded polyglutamine. Proc Natl Acad Sci USA 2003; 100:2409 - 2414
  • Schilling G, Sharp AH, Love SJ, Wagster MV, Li S H, Stine OC, Ross CA. Expression of the Huntington's disease (IT15) protein product in HD patients. Hum Mol Genet 1995; 4:1365 - 1371
  • Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, Weber C, Agid Y, Hirsch EC, Mandel JL. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet 1995; 10:104 - 110
  • Lunkes A, Mandel JL. A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum Mol Genet 1998; 7:1355 - 1361
  • Martindale D, Hackam A, Wieczorek A, Ellerby L, Wellington C, McCucheon K, Singaraja R, Kazemi-Esfarjani P, Devon R, Kim SU, Bredesen DE, Tufaro F, Hayden MR. Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet 1998; 18:150 - 154
  • Sieradzan KA, Mechan AO, Jones L, Wanker EE, Nukina N, Mann DM. Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein. Exp Neurol 1999; 156:92 - 99
  • Goldberg YP, Nicholson DW, Rasper DM, Kalchman MA, Koide HB, Graham RK, Bromm M, Kazemi-Esfarjani P, Thornberry NA, Vaillancourt JP, Hayden MR. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet 1996; 13:442 - 449
  • Gafni J, Ellerby LM. Calpain activation in Huntington's disease. J Neurosci 2002; 22:4842 - 4849
  • Lunkes A, Lindenberg KS, Ben-Haiem L, Weber C, Devys D, Landwehrmeyer GB, Mandel JL, Trottier Y. Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell 2002; 10:259 - 269
  • Warren CM, Krzesinski PR, Greaser ML. Vertical agarose gel electrophoresis and electroblotting of high molecular weight proteins. Electrophoresis 2003; 24:1695 - 1702
  • Li M, Chevalier Larsen ES, Merry DE, Diamond MI. Soluble androgen receptor oligomers underlie pathology in a mouse model of spinobulbar muscular atrophy. J Biol Chem 2007; 282:3157 - 3164

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.