Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts?

Journal of Medical Genetics

Volumn 36, Issue 4, 1999, Pages 265-270

  Rubinsztein, D C ^a   Wyttenbach, A ^a   Rankin, J ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Huntington's disease; Intracellular inclusions; Polyglutamine; Spinocerebellar ataxia

Indexed keywords

GLUTAMINE; MUTANT PROTEIN;

ANIMAL MODEL; AUTOPSY; BRAIN; CELL INCLUSION; DENTATORUBROPALLIDOLUYSIAN ATROPHY; HUMAN; HUNTINGTON CHOREA; MOUSE; MUSCLE ATROPHY; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; REVIEW; SPINOCEREBELLAR DEGENERATION; TRANSGENIC MOUSE; TRINUCLEOTIDE REPEAT;

ANIMALIA; ATAXIA; MUS MUSCULUS;

EID: 0032904145     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (40)

1. Rubinsztein DC, Hayden MR. Introduction. In: Rubinsztein DC, Hayden MR, eds. Analysis of tripler repeal disorders. Oxford: Bios Scientific Publishers, 1998:1-12.
2. Harper PS. Huntingion's disease. 2nd ed. London: WB Saunders, 1996.
3. Nasir J, Floresco SB, O'Kusky JR, el al. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 1995;81:811-23.
4. Zeitlin S, Liu JP, Chapman DL, Papaioannou VE, Efstratiadis A. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue, Nat Genet 1995;11:155-63.
5. Duyao MP, Auerbach AB, Ryan A, et al. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 1995;269:407-10.
6. Ambrose CM, Duyao MP, Barnes G, et al. Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded GAG repeat. Somat Cell Mol Genet 1994;20:27-38.
7. Beitel LK, Trifiro MA, Pinsky L. Spinobulbar muscular atrophy. In: Rubinsztein DC, Hayden MR, eds. Analysis of triplet repeat disorders, Oxford: Bios Scientific Publishers, 1908:85-99.
8. Mangiarini L, Sathasivam K, Seller M, et al. 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.
9. Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996;13:196-202.
10. Burright EN, Clark HB, Servadio A, et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995;82:937-48.
11. Warrick JM, Paulson HL, Gray-Board GL, et al. Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell 1998;93:939-49.
12. Jackson GR, Salecker I, Dong X, et al. Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron 1998;21:633-42.
13. White JK, Auerbach W, Duyao MP, et al. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet 1997-17:404-10.
14. Roizin L, Stellar S, Liu JC. Neuronal nuclear-cytoplasmic changes in Huntington's chorea: electron microscope investigations. In: Chase TN, Wexler NS, Barbeau A, eds. Advances in neurology. New York: Raven Press, 1979:95-122.
15. DiFiglia M, Sapp E, Chase KO, et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neuntes in brain. Science 1997;277:1990-3.
16. Paulson HL, Perez MK, Trottier Y, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997;19:333-44.
17. Becher MW, Kotzuk JA, Sharp AH, et al. Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length. Neurobiol Dis 1997;4:1-11.
18. Davies SW, Turmaine M, Cozens BA, et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 1997;90:537-48.
19. Skinner PJ, Koshy BT, Cummings CJ, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997;389:971-8.
20. Ordway JM, Tallaksen-Greene S, Gutekunst CA, et al. Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell 1997;91:753-63.
21. Reddy PH, Williams M, Charles V, et al. Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nat Genet 1998;20:198-202.
22. Martindale D, Hackam A, Wieczorek A, et al. Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet 1998;18:150-4.
23. Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996;13:196-202.
24. Igarashi S, Koide R, Shimohata T, et al. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 1998;18:111-17.
25. Wellington CL, Ellerby LM, Hackam AS, et al. Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem 1998;273:9158-67.
26. Lunkes A, Mandel JL. A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum Mol Genet 1998;7:1355-61.
27. Hackam AS, Singaraja R, Wellington CL, et al. The influence of huntingtin protein size on nuclear localization and cellular toxicity. J Cell Biol 1998;141:1097-105.
28. Kahlem P, Green H, Djian P. Transglutaminase action imitates Huntington's disease: selective polymerization of huntingtin containing expanded polygiutamine. Mol Cell 1998;1;595-601.
29. Perutz MR Glutamine repeats and inherited neurodegenerative diseases: molecular aspects. Gurr Opin Struct Biol 1996;6:848-58.
30. Cooper JK, Schilling G, Peters MF, et al. Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture. Hum Mol Genet 1998;7:783-90.
31. Cummings CJ, Mancini MA, Antalffy B, DeFranco DB, Orr HT, Zoghbi HY. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet 1998;19:148-54.
32. Paulson HL, Chai Y, Gray-Board GL, Bonini NM. Misfolding and aggregation in spinocerebellar ataxia type 3: a role for cellular chaperones in glutamine-repeat disease. Am J Hum Genet Suppl 1998;63:A8.
33. Hochstasser M, Ubiquitin-dependent protein degradation. Annu Rev Genet 1996;30:405-39.
34. Sadou F, Finkbeiner S, Devys D, Greenberg ME. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998;95:55-66.
35. Sisodia S. Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial? Cell 1998;95:1-4.
36. Holmberg M, Duyckaerts M, Durr A, et al. Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 1998;7: 913-18.
37. Klement IA, Skinner PA, Kaytor MD, et al. Ataxin-1 nuclear localisation and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998;95:41-53.
38. Orr HT, Skinner PJ, Klement CJ, Cummings CJ, Zoghbi HY The role of ataxin-1 nuclear expression and aggregates in SCA1 pathogenesis. Am J Hum Genet Suppl 1998;63:A8.
39. Ferrante RJ, Kowall NW, Beal MF, Martin JB, Bird ED, Richardson EP Morphologic and histochemical characteristics of a spared subset of striatal neurons in Huntington's disease. J Neuropathol Exp Neurol 1987;46:12-27.
40. Matilla A, Koshy BT, Cummings CJ, Isobe T, Orr HT, Zoghbi HY. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature 1997;389:974-8.