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

Pompe disease is a lysosomal storage disease (LSD) caused by a deficiency in the lysosomal enzyme acid α-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 ly...

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Hlavní autoři: Marugan, Juan J., Zheng, Wei, Motabar, Omid, Southall, Noel, Goldin, Ehud, Sidransky, Ellen, Aungst, Ronald A., Liu, Ke, Sadhukhan, Subir Kumar, Austin, Christopher P.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2892120/
https://ncbi.nlm.nih.gov/pubmed/20206419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmech.2010.01.027
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