Discovery of a novel noniminosugar acid α glucosidase chaperone series
Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA). Many disease-causing mutated GAA retain enzymatic activity but are not translocated from endoplasmic reticulum
Xiao, Jingbo,Motabar, Omid,Lea, Wendy A.,Hu, Xin,Zheng, Wei,Southall, Noel,Liu, Ke,Simeonov, Anton,Ferrer, Marc,Marugan, Juan J.,Westbroek, Wendy,Velayati, Arash,Gustafson, Ann Marie,Goldin, Ehud,Sidransky, Ellen,Tamargo, Rafael J.,Ribes, Antonia,Matalonga, Leslie
p. 7546 - 7559,14
(2020/08/24)
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