Glucocerebrosidase mutations in subjects with parkinsonism
作者： A Lwin
DOI: 10.1016/J.YMGME.2003.11.004
关键词:
摘要: … GBA) in autopsy samples from cases classified as Parkinson disease. Here we report that GBA … The novel mutations K198T and R329C were confirmed on a second PCR product and/or …
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R Charles Scriver, The Metabolic and Molecular Bases of Inherited Disease ,(1995)
JK Park, N Tayebi, BK Stubblefield, ME LaMarca, JJ MacKenzie, DL Stone, E Sidransky, The E326K mutation and Gaucher disease: mutation or polymorphism? Clinical Genetics. ,vol. 61, pp. 32- 34 ,(2002) , 10.1034/J.1399-0004.2002.610106.X
B. Bembi, S. Zambito Marsala, E. Sidransky, G. Ciana, M. Carrozzi, M. Zorzon, C. Martini, M. Gioulis, M.G. Pittis, L. Capus, Gaucher’s disease with Parkinson’s disease Clinical and pathological aspects Neurology. ,vol. 61, pp. 99- 101 ,(2003) , 10.1212/01.WNL.0000072482.70963.D7
N Tayebi, J Walker, B Stubblefield, E Orvisky, ME LaMarca, K Wong, H Rosenbaum, R Schiffmann, B Bembi, E Sidransky, Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Molecular Genetics and Metabolism. ,vol. 79, pp. 104- 109 ,(2003) , 10.1016/S1096-7192(03)00071-4
Katrina M. Dipple, Edward R.B. McCabe, Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. American Journal of Human Genetics. ,vol. 66, pp. 1729- 1735 ,(2000) , 10.1086/302938
Charles R. Scriver, Paula J. Waters, Monogenic traits are not simple: lessons from phenylketonuria Trends in Genetics. ,vol. 15, pp. 267- 272 ,(1999) , 10.1016/S0168-9525(99)01761-8
Judit Várkonyi, Hanna Rosenbaum, Nicole Baumann, Jennifer J. MacKenzie, Zsuzsa Simon, Judith Aharon-Peretz, Jamie M. Walker, Nahid Tayebi, Ellen Sidransky, Gaucher disease associated with parkinsonism: four further case reports. American Journal of Medical Genetics Part A. ,vol. 116, pp. 348- 351 ,(2003) , 10.1002/AJMG.A.10028
John Q Trojanowski, Michel Goedert, Takeshi Iwatsubo, Virginia M-Y Lee, Fatal attractions: abnormal protein aggregation and neuron death in Parkinson's disease and Lewy body dementia. Cell Death & Differentiation. ,vol. 5, pp. 832- 837 ,(1998) , 10.1038/SJ.CDD.4400432
Stephen P. Peters, Patrick Coyle, Robert H. Glew, Differentiation of β-glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate Archives of Biochemistry and Biophysics. ,vol. 175, pp. 569- 582 ,(1976) , 10.1016/0003-9861(76)90547-6
Eduard Korkotian, Andreas Schwarz, Dori Pelled, Günter Schwarzmann, Menahem Segal, Anthony H. Futerman, Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. Journal of Biological Chemistry. ,vol. 274, pp. 21673- 21678 ,(1999) , 10.1074/JBC.274.31.21673