Ontology highlight
ABSTRACT:
SUBMITTER: Lee NC
PROVIDER: S-EPMC7677380 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Lee Ni-Chung NC Peng Wei-Hao WH Tsai Li-Kai LK Lu Yen-Hsu YH Wang Hao-Chun HC Shih Yao-Chia YC Pung Zeng-Xian ZX Hu Hsi-Yuan HY Hwu Wuh-Liang WL Tseng Wen-Yih Isaac WI Chien Yin-Hsiu YH
Scientific reports 20201119 1
Pompe disease (PD) is caused by lysosomal glycogen accumulation in tissues, including muscles and the central nervous system (CNS). The intravenous infusion of recombinant human acid alpha-glucosidase (rhGAA) rescues the muscle pathologies in PD but does not treat the CNS because rhGAA does not cross the blood-brain barrier (BBB). To understand the CNS pathologies in PD, control and PD mice were followed and analyzed at 9 and 18 months with brain structural and ultrastructural studies. T2-weight ...[more]