Kulkarni, Alpha-galactosidase A deficient mice: a model of Fabry disease, Proc. Natl. Acad. Sci. U. S. A. 94 (1997) 2540-2544.Ohshima, T., Murray, G.J., Swaim, W.D., Longenecker, G., Quirk, J.M., Cardarelli, C.O., Sugimoto, Y., Pastan, I., Gottes- man, M.M., ...
His mutation resulted in a very low, but detectable, serum level of alpha-galactosidase A (0.002 U/L; normal range, 0.016 to 0.2 U/L). Cases of Fabry disease that present with predominantly renal manifestations are rare and require a high index of suspicion for diagnosis. Because treatment ...
Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizy... To evaluate the nature of the molecular lesions in the alpha-galactosidase A gene of two patients having Fabry disease. Enzyme ...
Alpha-galactosidase (Agalsidase) enzyme. Cause of Fabry's disease. Administered as enzyme replacement therapy. Atoms shown as spheres with conventional color coding: hydrogen (white) etc,站酷海洛,一站式正版视觉内容平台,站酷旗下品牌.授权内容包含正版商业
Fabry disease (FD) is an X-linked disease in which mutations of the GLA gene result in a deficiency of the enzyme 伪-galactosidase A and subsequent progres... A Pisani,B Visciano,M Imbriaco,... - 《Clinical Genetics》 被引量: 38发表: 2015年 Identification of a novel de novo mutation...
Anderson-Fabry disease, an inherited deficiency in the lysosomal enzyme alpha-galactosidase A, is characterized by the progressive accumulation of globotriaosylceramide (Gb3), also known as CD77. We sought to clarify the pathogenesis of Fabry disease by establishing a cell model of this disorder....
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore). 2002; 81... Renzo,Mignani - 《Nephrology 被引量: 0发表: 2018年 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-...
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease 来自 学术范 喜欢 0 阅读量: 34 作者: C Valentina,PG Jorge,DH Helena,PS Horacio,DP Rosita,L Ludovica,C Chiara,L Jan,CM Vittoria,A Giuseppina 展开...
- 应用: 在医学领域中,GLA蛋白的缺乏或活性降低与Fabry病等疾病相关。材料与方法:1. 购买GLA基因,并采用基因克隆技术将其插入表达载体中。2. 通过细菌转化和培养方法将表达载体导入大肠杆菌(E. coli)中。3. 在不同浓度的铝离子溶液中培养重组细菌片段。4. 收集菌液并通过超声裂解提取蛋白。5. 使用SDS-PAGE...
Koji Higuchi, Makoto Yoshimitsu, Xin Fan, Xiaoxin Guo, Vanessa I. Rasaiah, Toshihiro Takenaka, Chuwa Tei, Jeffrey A. Medin - 2010 - A31 - www.sciencedirect.comWe examined human T-lymphotropic virus type I (HTLV-I) infection among patients with myelodysplastic syndrome (MDS), refractory ...