Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.
Basic Information
ID: ALA1157879
Journal: Eur J Med Chem
Title: Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.
Authors: Marugan JJ, Zheng W, Motabar O, Southall N, Goldin E, Sidransky E, Aungst RA, Liu K, Sadhukhan SK, Austin CP.
Abstract: 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.
CiteXplore: 20206419
DOI: 10.1016/j.ejmech.2010.01.027
Patent ID: ┄