Mutations in the glucocerebrosidase gene and Parkinson disease: Phenotype–genotype correlation
作者： Judith Aharon-Peretz , Samih Badarny , Hanna Rosenbaum , Ruth Gershoni-Baruch
DOI: 10.1212/01.WNL.0000176987.47875.28
关键词:
摘要: Mutations in the glucocerebrosidase (GBA) gene have been recently identified as contributory to Parkinson disease (PD) Ashkenazi Jews. In present study, clinical characteristics of patients with PD GBA mutations (n = 40) were compared those without any known mutation 108). The overall manifestations and age at onset did not differ mutations.
sci-hub.se 参考文章(9)
Judith Aharon-Peretz, Hanna Rosenbaum, Ruth Gershoni-Baruch, Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi Jews The New England Journal of Medicine. ,vol. 351, pp. 1972- 1977 ,(2004) , 10.1056/NEJMOA033277
Miquel Vila, Serge Przedborski, Genetic clues to the pathogenesis of Parkinson's disease Nature Medicine. ,vol. 10, ,(2004) , 10.1038/NM1068
O Goker-Alpan, R Schiffmann, ME LaMarca, RL Nussbaum, A McInerney-Leo, E Sidransky, Parkinsonism among Gaucher disease carriers Journal of Medical Genetics. ,vol. 41, pp. 937- 940 ,(2004) , 10.1136/JMG.2004.024455
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
Ana Maria Cuervo, Leonidas Stefanis, Ross Fredenburg, Peter T Lansbury, David Sulzer, Impaired degradation of mutant α-synuclein by chaperone-mediated autophagy Science. ,vol. 305, pp. 1292- 1295 ,(2004) , 10.1126/SCIENCE.1101738
A Lwin, Glucocerebrosidase mutations in subjects with parkinsonism Molecular Genetics and Metabolism. ,vol. 81, pp. 70- 73 ,(2004) , 10.1016/J.YMGME.2003.11.004
Robert Bussell, David Eliezer, Effects of Parkinson's disease-linked mutations on the structure of lipid-associated alpha-synuclein. Biochemistry. ,vol. 43, pp. 4810- 4818 ,(2004) , 10.1021/BI036135+
A. J. Hughes, S. E. Daniel, A. J. Lees, Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology. ,vol. 57, pp. 1497- 1499 ,(2001) , 10.1212/WNL.57.8.1497
Kondi Wong, Ellen Sidransky, Ajay Verma, Tonghui Mixon, Glenn D Sandberg, Laura K Wakefield, Alan Morrison, Alicia Lwin, Carlos Colegial, John M Allman, Raphael Schiffmann, Neuropathology provides clues to the pathophysiology of Gaucher disease Molecular Genetics and Metabolism. ,vol. 82, pp. 192- 207 ,(2004) , 10.1016/J.YMGME.2004.04.011