NIH Chemical Genomic Center, National Human Genome Research Institute, National Institutes of Heath, 9800 Medical Center Drive, Rockville, MD, USA.
Eur J Med Chem. 2010 May;45(5):1880-97. doi: 10.1016/j.ejmech.2010.01.027. Epub 2010 Feb 1.
Pompe disease is a lysosomal storage disease (LSD) caused by a deficiency in the lysosomal enzyme acid alpha-glucosidase. In several LSDs, enzyme inhibitors have been used as small molecule chaperones to facilitate and increase the translocation of mutant protein from the endoplasmic reticulum to the lysosome. Enzyme activators with chaperone activity would be even more desirable as they would not inhibit the enzyme after translocation and might potentiate the activity of the enzyme that is successfully translocated. Herein we report our initial findings of a new series of acid alpha-glucosidase activators.
庞贝病是一种溶酶体贮积症（LSD），由溶酶体酶酸性α-葡萄糖苷酶缺乏引起。在几种 LSD 中，酶抑制剂已被用作小分子伴侣，以促进和增加突变蛋白从内质网向溶酶体的易位。具有伴侣活性的酶激活剂将更加理想，因为它们在易位后不会抑制酶，并且可能增强成功易位的酶的活性。本文报告了一系列新的酸性α-葡萄糖苷酶激活剂的初步研究结果。
