메뉴 건너뛰기




Volumn 8, Issue , 2012, Pages

Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China

Author keywords

Central China; Glucocerebrosidase; L444P; N370S; Parkinson's disease; R120W

Indexed keywords

GLUCOSYLCERAMIDASE;

EID: 84872181584     PISSN: None     EISSN: 17449081     Source Type: Journal    
DOI: 10.1186/1744-9081-8-57     Document Type: Article
Times cited : (29)

References (30)
  • 1
    • 63149090431 scopus 로고    scopus 로고
    • Parkinson's disease: from monogenic forms to genetic susceptibility factors
    • 10.1093/hmg/ddp012, 19297401
    • Lesage S, Brice A. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 2009, 18(R1):R48-R59. 10.1093/hmg/ddp012, 19297401.
    • (2009) Hum Mol Genet , vol.18 , Issue.R1
    • Lesage, S.1    Brice, A.2
  • 2
    • 42949118684 scopus 로고    scopus 로고
    • Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
    • 10.1002/humu.20676, 18338393
    • Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008, 29(5):567-583. 10.1002/humu.20676, 18338393.
    • (2008) Hum Mutat , vol.29 , Issue.5 , pp. 567-583
    • Hruska, K.S.1    LaMarca, M.E.2    Scott, C.R.3    Sidransky, E.4
  • 3
    • 79960360692 scopus 로고    scopus 로고
    • Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond
    • 10.1002/mds.23774, 21618611
    • Shachar T, Lo Bianco C, Recchia A, Wiessner C, Raas-Rothschild A, Futerman AH. Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond. Mov Disord 2011, 26(9):1593-1604. 10.1002/mds.23774, 21618611.
    • (2011) Mov Disord , vol.26 , Issue.9 , pp. 1593-1604
    • Shachar, T.1    Lo Bianco, C.2    Recchia, A.3    Wiessner, C.4    Raas-Rothschild, A.5    Futerman, A.H.6
  • 4
    • 0346059412 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations in subjects with parkinsonism
    • 10.1016/j.ymgme.2003.11.004, 14728994
    • Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004, 81(1):70-73. 10.1016/j.ymgme.2003.11.004, 14728994.
    • (2004) Mol Genet Metab , vol.81 , Issue.1 , pp. 70-73
    • Lwin, A.1    Orvisky, E.2    Goker-Alpan, O.3    LaMarca, M.E.4    Sidransky, E.5
  • 6
    • 33646171709 scopus 로고    scopus 로고
    • Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population
    • 10.1212/01.wnl.0000196492.80676.7c, 16476943
    • Toft M, Pielsticker L, Ross OA, Aasly JO, Farrer MJ. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology 2006, 66(3):415-417. 10.1212/01.wnl.0000196492.80676.7c, 16476943.
    • (2006) Neurology , vol.66 , Issue.3 , pp. 415-417
    • Toft, M.1    Pielsticker, L.2    Ross, O.A.3    Aasly, J.O.4    Farrer, M.J.5
  • 7
    • 67650509100 scopus 로고    scopus 로고
    • Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
    • 10.1016/j.neurobiolaging.2007.11.016, 2736795, 18160183
    • Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singleton A. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging 2009, 30(9):1515-1517. 10.1016/j.neurobiolaging.2007.11.016, 2736795, 18160183.
    • (2009) Neurobiol Aging , vol.30 , Issue.9 , pp. 1515-1517
    • Bras, J.1    Paisan-Ruiz, C.2    Guerreiro, R.3    Ribeiro, M.H.4    Morgadinho, A.5    Januario, C.6    Sidransky, E.7    Oliveira, C.8    Singleton, A.9
  • 8
    • 78649568105 scopus 로고    scopus 로고
    • Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China
    • 10.1111/j.1468-1331.2010.03097.x, 20528910
    • Hu FY, Xi J, Guo J, Yu LH, Liu L, He XH, Liu ZL, Zou XY, Xu YM. Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China. Eur J Neurol 2010, 17(12):1476-1478. 10.1111/j.1468-1331.2010.03097.x, 20528910.
    • (2010) Eur J Neurol , vol.17 , Issue.12 , pp. 1476-1478
    • Hu, F.Y.1    Xi, J.2    Guo, J.3    Yu, L.H.4    Liu, L.5    He, X.H.6    Liu, Z.L.7    Zou, X.Y.8    Xu, Y.M.9
  • 9
    • 60249097449 scopus 로고    scopus 로고
    • Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece
    • 10.1016/j.neulet.2009.01.029, 19383421
    • Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett 2009, 452(2):87-89. 10.1016/j.neulet.2009.01.029, 19383421.
    • (2009) Neurosci Lett , vol.452 , Issue.2 , pp. 87-89
    • Kalinderi, K.1    Bostantjopoulou, S.2    Paisan-Ruiz, C.3    Katsarou, Z.4    Hardy, J.5    Fidani, L.6
  • 10
    • 72749098988 scopus 로고    scopus 로고
    • Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China
    • 10.1016/j.neulet.2009.12.007, 20004703
    • Mao XY, Burgunder JM, Zhang ZJ, An XK, Zhang JH, Yang Y, Li T, Wang YC, Chang XL, Peng R. Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. Neurosci Lett 2010, 469(2):256-259. 10.1016/j.neulet.2009.12.007, 20004703.
    • (2010) Neurosci Lett , vol.469 , Issue.2 , pp. 256-259
    • Mao, X.Y.1    Burgunder, J.M.2    Zhang, Z.J.3    An, X.K.4    Zhang, J.H.5    Yang, Y.6    Li, T.7    Wang, Y.C.8    Chang, X.L.9    Peng, R.10
  • 13
    • 77953485608 scopus 로고    scopus 로고
    • Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
    • 10.1002/mds.23009, 20131388
    • Sun QY, Guo JF, Wang L, Yu RH, Zuo X, Yao LY, Pan Q, Xia K, Tang BS. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population. Mov Disord 2010, 25(8):1005-1011. 10.1002/mds.23009, 20131388.
    • (2010) Mov Disord , vol.25 , Issue.8 , pp. 1005-1011
    • Sun, Q.Y.1    Guo, J.F.2    Wang, L.3    Yu, R.H.4    Zuo, X.5    Yao, L.Y.6    Pan, Q.7    Xia, K.8    Tang, B.S.9
  • 14
    • 34447273298 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients
    • 10.1001/archneur.64.7.1056, 17620502
    • Tan EK, Tong J, Fook-Chong S, Yih Y, Wong MC, Pavanni R, Zhao Y. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch Neurol 2007, 64(7):1056-1058. 10.1001/archneur.64.7.1056, 17620502.
    • (2007) Arch Neurol , vol.64 , Issue.7 , pp. 1056-1058
    • Tan, E.K.1    Tong, J.2    Fook-Chong, S.3    Yih, Y.4    Wong, M.C.5    Pavanni, R.6    Zhao, Y.7
  • 15
    • 34548173473 scopus 로고    scopus 로고
    • Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese
    • 10.1136/jnnp.2006.105940, 2117856, 17702778
    • Wu YR, Chen CM, Chao CY, Ro LS, Lyu RK, Chang KH, Lee-Chen GJ. Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. J Neurol Neurosurg Psychiatry 2007, 78(9):977-979. 10.1136/jnnp.2006.105940, 2117856, 17702778.
    • (2007) J Neurol Neurosurg Psychiatry , vol.78 , Issue.9 , pp. 977-979
    • Wu, Y.R.1    Chen, C.M.2    Chao, C.Y.3    Ro, L.S.4    Lyu, R.K.5    Chang, K.H.6    Lee-Chen, G.J.7
  • 16
    • 34248594808 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
    • 10.1016/j.ymgme.2007.03.004, 1950300, 17462935
    • Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab 2007, 91(2):195-200. 10.1016/j.ymgme.2007.03.004, 1950300, 17462935.
    • (2007) Mol Genet Metab , vol.91 , Issue.2 , pp. 195-200
    • Ziegler, S.G.1    Eblan, M.J.2    Gutti, U.3    Hruska, K.S.4    Stubblefield, B.K.5    Goker-Alpan, O.6    LaMarca, M.E.7    Sidransky, E.8
  • 17
    • 7444237665 scopus 로고    scopus 로고
    • Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • 10.1056/NEJMoa033277, 15525722
    • Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004, 351(19):1972-1977. 10.1056/NEJMoa033277, 15525722.
    • (2004) N Engl J Med , vol.351 , Issue.19 , pp. 1972-1977
    • Aharon-Peretz, J.1    Rosenbaum, H.2    Gershoni-Baruch, R.3
  • 18
    • 69949134511 scopus 로고    scopus 로고
    • The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
    • 10.1002/mds.22538, 2736332, 19425057
    • DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord 2009, 24(11):1571-1578. 10.1002/mds.22538, 2736332, 19425057.
    • (2009) Mov Disord , vol.24 , Issue.11 , pp. 1571-1578
    • DePaolo, J.1    Goker-Alpan, O.2    Samaddar, T.3    Lopez, G.4    Sidransky, E.5
  • 20
    • 38349120445 scopus 로고    scopus 로고
    • Association between Parkinson's disease and glucocerebrosidase mutations in Brazil
    • 10.1016/j.parkreldis.2007.06.010, 17703984
    • Spitz M, Rozenberg R, Pereira Lda V, Reis Barbosa E. Association between Parkinson's disease and glucocerebrosidase mutations in Brazil. Parkinsonism Relat Disord 2008, 14(1):58-62. 10.1016/j.parkreldis.2007.06.010, 17703984.
    • (2008) Parkinsonism Relat Disord , vol.14 , Issue.1 , pp. 58-62
    • Spitz, M.1    Rozenberg, R.2    Pereira Lda, V.3    Reis Barbosa, E.4
  • 22
    • 79953839752 scopus 로고    scopus 로고
    • Gene-environment interactions: key to unraveling the mystery of Parkinson's disease
    • 10.1016/j.pneurobio.2011.03.005, 3098527, 21439347
    • Gao HM, Hong JS. Gene-environment interactions: key to unraveling the mystery of Parkinson's disease. Prog Neurobiol 2011, 94(1):1-19. 10.1016/j.pneurobio.2011.03.005, 3098527, 21439347.
    • (2011) Prog Neurobiol , vol.94 , Issue.1 , pp. 1-19
    • Gao, H.M.1    Hong, J.S.2
  • 23
    • 25844476202 scopus 로고    scopus 로고
    • Early environmental origins of neurodegenerative disease in later life
    • 10.1289/ehp.7571, 1280407, 16140633
    • Landrigan PJ, Sonawane B, Butler RN, Trasande L, Callan R, Droller D. Early environmental origins of neurodegenerative disease in later life. Environ Health Perspect 2005, 113(9):1230-1233. 10.1289/ehp.7571, 1280407, 16140633.
    • (2005) Environ Health Perspect , vol.113 , Issue.9 , pp. 1230-1233
    • Landrigan, P.J.1    Sonawane, B.2    Butler, R.N.3    Trasande, L.4    Callan, R.5    Droller, D.6
  • 24
    • 0034947602 scopus 로고    scopus 로고
    • Environmental risk factors and Parkinson's disease: a metaanalysis
    • 10.1006/enrs.2001.4264, 11437458
    • Priyadarshi A, Khuder SA, Schaub EA, Priyadarshi SS. Environmental risk factors and Parkinson's disease: a metaanalysis. Environ Res 2001, 86(2):122-127. 10.1006/enrs.2001.4264, 11437458.
    • (2001) Environ Res , vol.86 , Issue.2 , pp. 122-127
    • Priyadarshi, A.1    Khuder, S.A.2    Schaub, E.A.3    Priyadarshi, S.S.4
  • 27
    • 34047193434 scopus 로고    scopus 로고
    • Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles
    • 10.1016/j.bcmd.2006.11.003, 17196853
    • Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol Dis 2007, 38(3):287-293. 10.1016/j.bcmd.2006.11.003, 17196853.
    • (2007) Blood Cells Mol Dis , vol.38 , Issue.3 , pp. 287-293
    • Choy, F.Y.1    Zhang, W.2    Shi, H.P.3    Zay, A.4    Campbell, T.5    Tang, N.6    Ferreira, P.7
  • 28
    • 27744459735 scopus 로고    scopus 로고
    • Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles
    • 10.1016/j.chembiol.2005.09.007, 16298303
    • Sawkar AR, Adamski-Werner SL, Cheng WC, Wong CH, Beutler E, Zimmer KP, Kelly JW. Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. Chem Biol 2005, 12(11):1235-1244. 10.1016/j.chembiol.2005.09.007, 16298303.
    • (2005) Chem Biol , vol.12 , Issue.11 , pp. 1235-1244
    • Sawkar, A.R.1    Adamski-Werner, S.L.2    Cheng, W.C.3    Wong, C.H.4    Beutler, E.5    Zimmer, K.P.6    Kelly, J.W.7
  • 29
    • 77954933661 scopus 로고    scopus 로고
    • The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders
    • 10.1007/s11910-010-0102-x, 3529411, 20425034
    • Velayati A, Yu WH, Sidransky E. The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep 2010, 10(3):190-198. 10.1007/s11910-010-0102-x, 3529411, 20425034.
    • (2010) Curr Neurol Neurosci Rep , vol.10 , Issue.3 , pp. 190-198
    • Velayati, A.1    Yu, W.H.2    Sidransky, E.3
  • 30
    • 78649284891 scopus 로고    scopus 로고
    • The genetics of Parkinson disease
    • 10.1177/0891988710383572, 3044594, 20938043
    • Bekris LM, Mata IF, Zabetian CP. The genetics of Parkinson disease. J Geriatr Psychiatry Neurol 2010, 23(4):228-242. 10.1177/0891988710383572, 3044594, 20938043.
    • (2010) J Geriatr Psychiatry Neurol , vol.23 , Issue.4 , pp. 228-242
    • Bekris, L.M.1    Mata, I.F.2    Zabetian, C.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.