نتایج جستجو برای: tay sachs disease
تعداد نتایج: 1492516 فیلتر نتایج به سال:
A crude /I-hexosaminidase fraction prepared by (NH,),SO( fractionation of human liver extract or urine was found to convert Tay-Sachs ganglioside, GalNAcPl -+ 4(NANcrZ -+ 3)Gal/31 --f 4Glc + ceramide (G& into NAN& + 3Galfil -+ 4 Glc + ceramide (GMM3). After separation of hexosaminidase A and B by DEAE-cellulose chromatography, only freshly prepared fi-hexosaminidase A hydrolyzed GM2 although bo...
We show that the N-terminal 'thermostabilizing domain' (TSD) of the xylanase, XynA, from the thermophilic bacterium Caldibacillus cellulovorans also acts as a xylan binding domain. Affinity electrophoresis experiments show that this TSD selectively binds soluble xylan and binds weakly to hydroxyethylcellulose. Based on this, and previously reported evidence, we propose that xylanase-associated ...
A screening program for the detection of Tay-Sachs disease (TSD) carriers in the ultra Orthodox community of Ashkenazi Jews has operated in Israel since 1986. The purpose of this program is the prevention of marriages of 2 heterozygotes. The screened individuals are mostly couples in the engagement process or students in religious high schools. Two mandatory requirements guide this program. Fir...
Tay-Sachs disease (TSD) is the prototype for ethnic-based carrier screening, with a carrier rate of ∼1/27 in Ashkenazi Jews and French Canadians. HexA enzyme analysis is the current gold standard for TSD carrier screening (detection rate ∼98%), but has technical limitations. We compared DNA analysis by next-generation DNA sequencing (NGS) plus an assay for the 7.6 kb deletion to enzyme analysis...
The basic notion that an individual’s freedom to choose will advance society at large is a cornerstone of political philosophy and of the economic theory of the Western world. Early political philosophers such as John Stuart Mill and legendary economists such as Adam Smith have advocated a utilitarian approach to political and economic life, in which the advancement of one’s own interests also ...
Su-Yang Xu1,2†, Nasser Alidoust1,2†, Ilya Belopolski1,2†, Zhujun Yuan3, Guang Bian1, Tay-Rong Chang1,4, Hao Zheng1, Vladimir N. Strocov5, Daniel S. Sanchez1, Guoqing Chang6,7, Chenglong Zhang3, Daixiang Mou8,9, YunWu8,9, Lunan Huang8,9, Chi-Cheng Lee6,7, Shin-Ming Huang6,7, BaoKai Wang6,7,10, Arun Bansil10, Horng-Tay Jeng4,11, Titus Neupert12, Adam Kaminski8,9, Hsin Lin6,7, Shuang Jia3,13 and M...
Tay-Sachs or Sandhoff disease result from mutations in either the evolutionarily related HEXA or HEXB genes encoding respectively, the α- or β-subunits of β-hexosaminidase A (HexA). Of the three Hex isozymes, only HexA can interact with its cofactor, the GM2 activator protein (GM2AP), and hydrolyze GM2 ganglioside. A major impediment to establishing gene or enzyme replacement therapy based on H...
Tay-Sachs and Sandhoff diseases are lysosomal storage disorders characterized by the absence of beta-hexosaminidase activity and the accumulation of GM2 ganglioside in neurons. In each disorder, a virtually identical course of neurodegeneration begins in infancy and leads to demise generally by 4-6 years of age. Through serial analysis of gene expression (SAGE), we determined gene expression pr...
With the initial design of WEBRC, as described in the -00 and -01 IETF RMT building block drafts [1, 2], the server output rate varies in time with period TSD (recommended to be 10 seconds). The variation is quite significant; when the recommended multiplicative decrease value P = 0.75 is used, it causes the average output rate to be at least 13.1% less than the peak rate. This document describ...
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