1146895-98-8Relevant academic research and scientific papers
Discovery of a novel noniminosugar acid α glucosidase chaperone series
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)
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
