Ubiquitin carboxy-terminal hydrolase L1 (UCHL1) S18Y polymorphism in Alzheimer's disease

Molecular Neurodegeneration

Volumn 5, Issue 1, 2010, Pages

  Zetterberg, Madeleine ^a   Sjölander, Annica ^a   Von Otter, Malin ^a   Palmér, Mona Seibt ^b   Landgren, Sara ^a   Minthon, Lennart ^c,d   Wallin, Anders ^a   Andreasen, Niels ^e   Blennow, Kaj ^a   Zetterberg, Henrik ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c LUND UNIVERSITY   (Sweden)

^d LUND UNIVERSITY HOSPITAL   (Sweden)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEASOME; UBIQUITIN;

ADULT; AGED; ALZHEIMER DISEASE; APOE EPSILON4 GENE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROFIBRILLARY TANGLE; PARKINSON DISEASE; PROTEIN AGGREGATION; PROTEIN DEGRADATION; SENILE PLAQUE; SWEDEN; UCHL1 GENE;

EID: 77950591067     PISSN: None     EISSN: 17501326     Source Type: Journal    
DOI: 10.1186/1750-1326-5-11     Document Type: Article

References (35)

1. The ubiquitin-proteasome system in Alzheimer's disease. S Oddo, J Cell Mol Med 2008 12 363 373 10.1111/j.1582-4934.2008.00276.x 18266959 (Pubitemid 351555121)
2. The ubiquitin system, disease, and drug discovery. MD Petroski, BMC Biochem 2008 9 Suppl 1 7 10.1186/1471-2091-9-S1-S7 19007437
3. Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction. HC Tai EM Schuman, Nat Rev Neurosci 2008 9 826 838 10.1038/nrn2499 18931696
4. Neural markers in carcinoma of the lung. AP Dhillon J Rode DP Dhillon E Moss RJ Thompson SG Spiro B Corrin, Br J Cancer 1985 51 645 652 2986665 (Pubitemid 15095743)
5. Expression of protein gene product 9.5 (PGP9.5)/ubiquitin-C-terminal hydrolase 1 (UCHL-1) in human myeloma cells. T Otsuki K Yata A Takata-Tomokuni F Hyodoh Y Miura H Sakaguchi T Hatayama S Hatada T Tsujioka Y Sato H Murakami Y Sadahira T Sugihara, Br J Haematol 2004 127 292 298 10.1111/j.1365-2141.2004. 05205.x 15491288 (Pubitemid 39468942)
6. PGP 9.5 - a new marker for vertebrate neurons and neuroendocrine cells. RJ Thompson JF Doran P Jackson AP Dhillon J Rode, Brain Res 1983 278 224 228 10.1016/0006-8993(83)90241-X 6640310 (Pubitemid 14219291)
7. Genetic causes of Parkinson's disease: UCHL-1. DG Healy PM Abou-Sleiman NW Wood, Cell Tissue Res 2004 318 189 194 10.1007/s00441-004-0917-3 15221445 (Pubitemid 39362639)
8. Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron. H Osaka YL Wang K Takada S Takizawa R Setsuie H Li Y Sato K Nishikawa YJ Sun M Sakurai T Harada Y Hara I Kimura S Chiba K Namikawa H Kiyama M Noda S Aoki K Wada, Hum Mol Genet 2003 12 1945 1958 10.1093/hmg/ddg211 12913066 (Pubitemid 37038804)
9. The ubiquitin pathway in Parkinson's disease. E Leroy R Boyer G Auburger B Leube G Ulm E Mezey G Harta MJ Brownstein S Jonnalagada T Chernova A Dehejia C Lavedan T Gasser PJ Steinbach KD Wilkinson MH Polymeropoulos, Nature 1998 395 451 452 10.1038/26652 9774100
10. The functions of UCH-L1 and its relation to neurodegenerative diseases. R Setsuie K Wada, Neurochem Int 2007 51 105 111 10.1016/j.neuint.2007.05.007 17586089 (Pubitemid 47179898)
11. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Y Liu L Fallon HA Lashuel Z Liu PT Lansbury Jr, Cell 2002 111 209 218 10.1016/S0092-8674(02)01012-7 12408865 (Pubitemid 35292441)
12. The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells. E Kyratzi M Pavlaki L Stefanis, Hum Mol Genet 2008 17 2160 2171 10.1093/hmg/ddn115 18411255 (Pubitemid 351911985)
13. S18Y in ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) associated with decreased risk of Parkinson's disease in Sweden. A Carmine Belin M Westerlund O Bergman H Nissbrandt C Lind O Sydow D Galter, Parkinsonism Relat Disord 2007 13 295 298 10.1016/j.parkreldis.2006.12.002 17287139 (Pubitemid 47002329)
14. S18Y polymorphism in the UCH-L1 gene and Parkinson's disease: evidence for an age-dependent relationship. A Elbaz C Levecque J Clavel JS Vidal F Richard JR Correze B Delemotte P Amouyel A Alperovitch MC Chartier-Harlin C Tzourio, Mov Disord 2003 18 130 137 10.1002/mds.10326 12539205 (Pubitemid 36305455)
15. Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. DM Maraganore MJ Farrer JA Hardy SJ Lincoln SK McDonnell WA Rocca, Neurology 1999 53 1858 1860 10563640 (Pubitemid 29530367)
16. UCHL1 is a Parkinson's disease susceptibility gene. DM Maraganore TG Lesnick A Elbaz MC Chartier-Harlin T Gasser R Kruger N Hattori GD Mellick A Quattrone J Satoh T Toda J Wang JP Ioannidis M de Andrade WA Rocca, Ann Neurol 2004 55 512 521 10.1002/ana.20017 15048890 (Pubitemid 38391968)
17. Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease. CM Hutter A Samii SA Factor JG Nutt DS Higgins TD Bird A Griffith JW Roberts BC Leis JS Montimurro DM Kay KL Edwards H Payami CP Zabetian, Eur J Neurol 2008 15 134 139 18093156
18. Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia. DA Forero B Benitez G Arboleda JJ Yunis R Pardo H Arboleda, Neurosci Res 2006 55 334 341 10.1016/j.neures.2006.04.006 16698101 (Pubitemid 43766406)
19. Genetic association between Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism and sporadic Alzheimer's disease in a Chinese Han population. S Xue J Jia, Brain Res 2006 1087 28 32 10.1016/j.brainres.2006.02.121 16626667 (Pubitemid 43783159)
20. Kinesin gene variability may affect tau phosphorylation in early Alzheimer's disease. ME Andersson A Sjolander N Andreasen L Minthon O Hansson N Bogdanovic C Jern K Jood A Wallin K Blennow H Zetterberg, Int J Mol Med 2007 20 233 239 17611642
21. Association of complement factor H Y402H gene polymorphism with Alzheimer's disease. M Zetterberg S Landgren ME Andersson MS Palmer DR Gustafson I Skoog L Minthon DS Thelle A Wallin N Bogdanovic N Andreasen K Blennow H Zetterberg, Am J Med Genet B Neuropsychiatr Genet 2007 147B 6 720 6
22. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. G McKhann D Drachman M Folstein R Katzman D Price EM Stadlan, Neurology 1984 34 939 944 6610841 (Pubitemid 14076461)
23. No association between the alpha2-macroglobulin (A2 M) deletion and Alzheimer's disease, and no change in A2 M mRNA, protein, or protein expression. K Blennow A Ricksten JA Prince AJ Brookes T Emahazion C Wasslavik N Bogdanovic N Andreasen S Batsman J Marcusson K Nagga A Wallin B Regland H Olofsson C Hesse P Davidsson L Minthon A Jansson L Palmqvist L Rymo, J Neural Transm 2000 107 1065 1079 10.1007/s007020070052 11041282
24. Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation. JA Prince L Feuk WM Howell M Jobs T Emahazion K Blennow AJ Brookes, Genome Res 2001 11 152 162 10.1101/gr.150201 11156624 (Pubitemid 32117961)
25. Immunocytochemical co-localization of the proteasome in ubiquitinated structures in neurodegenerative diseases and the elderly. K Ii H Ito K Tanaka A Hirano, J Neuropathol Exp Neurol 1997 56 125 131 10.1097/00005072-199702000- 00002 9034365 (Pubitemid 27461174)
26. Ubiquitin is a component of paired helical filaments in Alzheimer's disease. H Mori J Kondo Y Ihara, Science 1987 235 1641 1644 10.1126/science. 3029875 3029875 (Pubitemid 17050146)
27. Ubiquitin is detected in neurofibrillary tangles and senile plaque neurites of Alzheimer disease brains. G Perry R Friedman G Shaw V Chau, Proc Natl Acad Sci USA 1987 84 3033 3036 10.1073/pnas.84.9.3033 3033674 (Pubitemid 17064772)
28. Ultrastructural localization of beta-amyloid, tau, and ubiquitin epitopes in extracellular neurofibrillary tangles. M Tabaton S Cammarata G Mancardi V Manetto L Autilio-Gambetti G Perry P Gambetti, Proc Natl Acad Sci USA 1991 88 2098 2102 10.1073/pnas.88.6.2098 1706517 (Pubitemid 21916361)
29. Immunoproteasome and LMP2 polymorphism in aged and Alzheimer's disease brains. M Mishto E Bellavista A Santoro A Stolzing C Ligorio B Nacmias L Spazzafumo M Chiappelli F Licastro S Sorbi A Pession T Ohm T Grune C Franceschi, Neurobiol Aging 2006 27 54 66 10.1016/j.neurobiolaging.2004.12.004 16298241 (Pubitemid 41627950)
30. Family-based association between Alzheimer's disease and variants in UBQLN1. L Bertram M Hiltunen M Parkinson M Ingelsson C Lange K Ramasamy K Mullin R Menon AJ Sampson MY Hsiao KJ Elliott G Velicelebi T Moscarillo BT Hyman SL Wagner KD Becker D Blacker RE Tanzi, N Engl J Med 2005 352 884 894 10.1056/NEJMoa042765 15745979 (Pubitemid 40300297)
31. Proteomic identification of oxidatively modified proteins in Alzheimer's disease brain. Part I: creatine kinase BB, glutamine synthase, and ubiquitin carboxy-terminal hydrolase L-1. A Castegna M Aksenov M Aksenova V Thongboonkerd JB Klein WM Pierce R Booze WR Markesbery DA Butterfield, Free Radic Biol Med 2002 33 562 571 10.1016/S0891-5849(02)00914-0 12160938 (Pubitemid 34874977)
32. Use of cDNA microarray in the search for molecular markers involved in the onset of Alzheimer's disease dementia. GM Pasinetti, J Neurosci Res 2001 65 471 476 10.1002/jnr.1176 11550214
33. Ubiquitin hydrolase Uch-L1 rescues beta-amyloid-induced decreases in synaptic function and contextual memory. B Gong Z Cao P Zheng OV Vitolo S Liu A Staniszewski D Moolman H Zhang M Shelanski O Arancio, Cell 2006 126 775 788 10.1016/j.cell.2006.06.046 16923396 (Pubitemid 44233627)
34. Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. GW Beecham ER Martin YJ Li MA Slifer JR Gilbert JL Haines MA Pericak-Vance, Am J Hum Genet 2009 84 35 43 10.1016/j.ajhg.2008.12. 008 19118814
35. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. D Harold R Abraham P Hollingworth R Sims A Gerrish ML Hamshere JS Pahwa V Moskvina K Dowzell A Williams N Jones C Thomas A Stretton AR Morgan S Lovestone J Powell P Proitsi MK Lupton C Brayne DC Rubinsztein M Gill B Lawlor A Lynch K Morgan KS Brown PA Passmore D Craig B McGuinness S Todd C Holmes, et al. Nat Genet 2009 41 1088 1093 10.1038/ng.440 19734902