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Eur J Med Chem. 2010 May;45(5):1880-97. doi: 10.1016/j.ejmech.2010.01.027. Epub 2010 Feb 1.

Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.

Author information

1
NIH Chemical Genomic Center, National Human Genome Research Institute, National Institutes of Heath, 9800 Medical Center Drive, Rockville, MD, USA. maruganj@mail.nih.gov

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.

PMID:
20206419
PMCID:
PMC2892120
DOI:
10.1016/j.ejmech.2010.01.027
[Indexed for MEDLINE]
Free PMC Article

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