Altered expression of carbonic anhydrase-related protein XI in neuronal cells expressing mutant ataxin-3

Cerebellum

Volumn 12, Issue 3, 2013, Pages 338-349

  Hsieh, Mingli ^a   Chang, Wei Hsiu ^a   Hsu, Chi Fu ^a   Nishimori, Isao ^b   Kuo, Cheng Liang ^c   Minakuchi, Tomoko ^b  

^a TUNGHAI UNIVERSITY   (Taiwan)

^b KOCHI MEDICAL SCHOOL   (Japan)

^c CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

Author keywords

CA RPs; Mutant ataxin 3; Neuro2a; SK N SH; Spinocerebellar ataxia type 3

Indexed keywords

ATAXIN 3; CARBONATE DEHYDRATASE; CARBONIC ANHYDRASE RELATED PROTEIN 10; CARBONIC ANHYDRASE RELATED PROTEIN 11; CARBONIC ANHYDRASE RELATED PROTEIN 8; MUTANT PROTEIN; POLYGLUTAMINE; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; AUTOPSY; BRAIN NERVE CELL; CELL NUCLEUS; CENTRAL NERVOUS SYSTEM; CONFERENCE PAPER; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOPLASM; DISEASE COURSE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; MICROARRAY ANALYSIS; MOUSE; NEUROBLASTOMA CELL; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSGENIC MOUSE;

ANIMALS; CELL LINE, TUMOR; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GREEN FLUORESCENT PROTEINS; HUMANS; MACHADO-JOSEPH DISEASE; MICE; MUTATION; NERVE TISSUE PROTEINS; NEUROBLASTOMA; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REPRESSOR PROTEINS; RNA, MESSENGER; TRANSFECTION;

EID: 84879096679     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-012-0430-2     Document Type: Conference Paper

References (43)

1. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8(3):221-8. PubMed PMID: 7874163. eng.
2. Costa MD, Paulson HL. Toward understanding Machado-Joseph disease. Prog Neurobiol. 2011; 97:239-57. PubMed PMID: 22133674. Pubmed Central PMCID: PMC3306771. Eng.
3. Yuasa T, Ohama E, Harayama H, Yamada M, Kawase Y, Wakabayashi M, et al. Joseph's disease: clinical and pathological studies in a Japanese family. Ann Neurol. 1986;19(2):152-7. PubMed PMID: 3963757. eng.
4. Burnett B, Li F, Pittman RN. The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity. Hum Mol Genet. 2003;12(23):3195-205. PubMed PMID: 14559776. eng.
5. Chai Y, Berke SS, Cohen RE, Paulson HL. Poly-ubiquitin binding by the polyglutamine disease protein ataxin-3 links its normal function to protein surveillance pathways. J Biol Chem. 2004;279(5):3605-11. PubMed PMID: 14602712. eng.
6. Donaldson KM, Li W, Ching KA, Batalov S, Tsai CC, Joazeiro CA. Ubiquitin-mediated sequestration of normal cellular proteins into polyglutamine aggregates. Proc Natl Acad Sci USA. 2003;100(15):8892-7. PubMed PMID: 12857950. Pubmed Central PMCID: PMC166409. eng.
7. Doss-Pepe EW, Stenroos ES, Johnson WG, Madura K. Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis. Mol Cell Biol. 2003;23(18):6469-83. PubMed PMID: 12944474. Pubmed Central PMCID: PMC193705. eng.
8. Scheel H, Tomiuk S, Hofmann K. Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics. Hum Mol Genet. 2003;12(21):2845-52. PubMed PMID: 12944423. eng.
9. Warrick JM, Morabito LM, Bilen J, Gordesky-Gold B, Faust LZ, Paulson HL, et al. Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism. Mol Cell. 2005;18(1):37-48. PubMed PMID: 15808507. eng.
10. Sherman MY, Goldberg AL. Cellular defenses against unfolded proteins: a cell biologist thinks about neurodegenerative diseases. Neuron. 2001;29(1):15-32. PubMed PMID: 11182078. eng.
11. Haacke A, Broadley SA, Boteva R, Tzvetkov N, Hartl FU, Breuer P. Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3. Hum Mol Genet. 2006;15(4):555-68. PubMed PMID: 16407371. eng.
12. Breuer P, Haacke A, Evert BO, Wüllner U. Nuclear aggregation of polyglutamine-expanded ataxin-3: fragments escape the cytoplasmic quality control. J Biol Chem. 2010;285(9):6532-7. PubMed PMID: 20064935. Pubmed Central PMCID: PMC2825449. eng.
13. Paulson HL, Bonini NM, Roth KA. Polyglutamine disease and neuronal cell death. Proc Natl Acad Sci USA. 2000;97(24):12957-8. PubMed PMID: 11058149. Pubmed Central PMCID: PMC34075. eng.
14. McCampbell A, Fischbeck KH. Polyglutamine and CBP: fatal attraction? Nat Med. 2001;7(5):528-30. PubMed PMID: 11329046. eng.
15. Nucifora FC, Sasaki M, Peters MF, Huang H, Cooper JK, Yamada M, et al. Interference by huntingtin and atrophin-1 with CBP-mediated transcription leading to cellular toxicity. Science. 2001;291(5512):2423-8. PubMed PMID: 11264541. eng.
16. Dunah AW, Jeong H, Griffin A, Kim YM, Standaert DG, Hersch SM, et al. Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science. 2002;296(5576):2238-43. PubMed PMID: 11988536. eng.
17. Li F, Macfarlan T, Pittman RN, Chakravarti D. Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities. J Biol Chem. 2002;277(47):45004-12. PubMed PMID: 12297501. eng.
18. Wen FC, Li YH, Tsai HF, Lin CH, Li C, Liu CS, et al. Down-regulation of heat shock protein 27 in neuronal cells and non-neuronal cells expressing mutant ataxin-3. FEBS Lett. 2003;546(2-3):307-14. PubMed PMID: 12832059. eng.
19. Evert BO, Vogt IR, Vieira-Saecker AM, Ozimek L, de Vos RA, Brunt ER, et al. Gene expression profiling in ataxin-3 expressing cell lines reveals distinct effects of normal and mutant ataxin-3. J Neuropathol Exp Neurol. 2003;62(10):1006-18. PubMed PMID: 14575237. eng.
20. Chang WH, Cemal CK, Hsu YH, Kuo CL, Nukina N, Chang MH, et al. Dynamic expression of Hsp27 in the presence of mutant ataxin-3. Biochem Biophys Res Commun. 2005;336(1):258-67. PubMed PMID: 16126176. eng.
21. Reina CP, Zhong X, Pittman RN. Proteotoxic stress increases nuclear localization of ataxin-3. Hum Mol Genet. 2010;19(2):235-49. PubMed PMID: 19843543. Pubmed Central PMCID: PMC2796889. eng.
22. Koch P, Breuer P, Peitz M, Jungverdorben J, Kesavan J, Poppe D, et al. Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature. 2011;480(7378):543-6. PubMed PMID: 22113611. eng.
23. Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron. 1997;19(2):333-44. PubMed PMID: 9292723. eng.
24. Schmidt T, Landwehrmeyer GB, Schmitt I, Trottier Y, Auburger G, Laccone F, et al. An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients. Brain Pathol. 1998;8(4):669-79. PubMed PMID: 9804376. eng.
25. Ross CA, Poirier MA. Opinion: what is the role of protein aggregation in neurodegeneration? Nat Rev Mol Cell Biol. 2005;6(11):891-8. PubMed PMID: 16167052. eng.
26. 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(7010):805-10. PubMed PMID: 15483602. eng.
27. Rochet JC. Novel therapeutic strategies for the treatment of protein-misfolding diseases. Expert Rev Mol Med. 2007;9(17):1-34. PubMed PMID: 17597554. eng.
28. Kvam E, Nannenga BL, Wang MS, Jia Z, Sierks MR, Messer A. Conformational targeting of fibrillar polyglutamine proteins in live cells escalates aggregation and cytotoxicity. PLoS One. 2009;4(5):e5727. PubMed PMID: 19492089. Pubmed Central PMCID: PMC2683928. eng.
29. Sly WS, Hu PY. Human carbonic anhydrases and carbonic anhydrase deficiencies. Annu Rev Biochem. 1995;64:375-401. PubMed PMID: 7574487. eng.
30. Hewett-Emmett D. Evolution and distribution of the carbonic anhydrase gene families. EXS. 2000;90:29-76. PubMed PMID: 11268522. eng.
31. Lehtonen J, Shen B, Vihinen M, Casini A, Scozzafava A, Supuran CT, et al. Characterization of CA XIII, a novel member of the carbonic anhydrase isozyme family. J Biol Chem. 2004;279(4):2719-27. PubMed PMID: 14600151. eng.
32. Tashian RE, Hewett-Emmett D, Carter N, Bergenhem NC. Carbonic anhydrase (CA)-related proteins (CA-RPs), and transmembrane proteins with CA or CA-RP domains. EXS. 2000;90:105-20. PubMed PMID: 11268511. eng.
33. Hewett-Emmett D, Tashian RE. Functional diversity, conservation, and convergence in the evolution of the alpha-, beta-, and gamma-carbonic anhydrase gene families. Mol Phylogenet Evol. 1996;5(1):50-77. PubMed PMID: 8673298. eng.
34. Taniuchi K, Nishimori I, Takeuchi T, Ohtsuki Y, Onishi S. cDNA cloning and developmental expression of murine carbonic anhydrase-related proteins VIII, X, and XI. Brain Res Mol Brain Res. 2002;109(1-2):207-15. PubMed PMID: 12531530. eng.
35. Taniuchi K, Nishimori I, Takeuchi T, Fujikawa-Adachi K, Ohtsuki Y, Onishi S. Developmental expression of carbonic anhydrase-related proteins VIII, X, and XI in the human brain. Neuroscience. 2002;112(1):93-9. PubMed PMID: 12044474. eng.
36. Jiao Y, Yan J, Zhao Y, Donahue LR, Beamer WG, Li X, et al. Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics. 2005;171(3):1239-46. PubMed PMID: 16118194. Pubmed Central PMCID: PMC1456827. eng.
37. Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, et al. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 2009;5(5):e1000487. PubMed PMID: 19461874. Pubmed Central PMCID: PMC2677160. eng.
38. Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, et al. Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. Am J Med Genet B Neuropsychiatr Genet. 2011;156B(7):826-34. PubMed PMID: 21812104. eng.
39. Chang WH, Tien CL, Chen TJ, Nukina N, Hsieh M. Decreased protein synthesis of Hsp27 associated with cellular toxicity in a cell model of Machado-Joseph disease. Neurosci Lett. 2009;454(2):152-6. PubMed PMID: 19429074. eng.
40. Cemal CK, Carroll CJ, Lawrence L, Lowrie MB, Ruddle P, Al-Mahdawi S, et al. YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit. Hum Mol Genet. 2002;11(9):1075-94. PubMed PMID: 11978767. eng.
41. Cairns J, Qin S, Philp R, Tan YH, Guy GR. Dephosphorylation of the small heat shock protein Hsp27 in vivo by protein phosphatase 2A. J Biol Chem. 1994;269(12):9176-83. PubMed PMID: 7510704. eng.
42. Hirota J, Ando H, Hamada K, Mikoshiba K. Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1. Biochem J. 2003;372(Pt 2):435-41. PubMed PMID: 12611586. Pubmed Central PMCID: PMC1223404. eng.
43. Chen X, Tang TS, Tu H, Nelson O, Pook M, Hammer R, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci. 2008;28(48):12713-24. PubMed PMID: 19036964. Pubmed Central PMCID: PMC2663415. eng.