马罗托克斯-拉米和莫尔奎奥 A 综合征新生儿筛查用底物的设计与合成。
Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes.
机构信息
Department of Chemistry, University of Washington, Seattle, WA 98195, USA.
出版信息
Bioorg Med Chem Lett. 2010 Oct 15;20(20):5994-6. doi: 10.1016/j.bmcl.2010.08.080. Epub 2010 Aug 25.
Abstract
In continued efforts to develop enzymatic assays for lysosomal storage diseases appropriate for newborn screening laboratories we have synthesized novel and specific enzyme substrates for Maroteaux-Lamy (MPS VI) and Morquio A (MPS IVA) diseases. The sulfated monosaccharide derivatives were found to be converted to product by the respective enzyme in blood from healthy patients but not by blood from patients with the relevant lysosomal storage disease. The latter result shows that the designed substrates are highly selective for the respective enzymes.
摘要
为了继续开发适合新生儿筛查实验室的溶酶体贮积病的酶学检测方法，我们合成了用于 Maroteaux-Lamy（MPS VI）和 Morquio A（MPS IVA）疾病的新型、特异的酶底物。研究发现，在健康患者的血液中，这些硫酸化单糖衍生物可被相应的酶转化为产物，但在相关溶酶体贮积病患者的血液中则不能。这一结果表明，所设计的底物对相应的酶具有高度选择性。
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