Article

Lysosomal impairments in Pompe disease are associated with altered T cell homeostasis and intrinsic metabolic dysregulation

2025-09-22

Abstract excerpt

<title>Abstract</title> <p> Pompe disease (PD) is a neuromuscular lysosomal storage disorder caused by mutations in the <italic>GAA</italic> gene, characterized by progressive glycogen accumulation in multiple tissues and autophagy and metabolic abnormalities. While immunological changes have largely been overlooked as part of PD's symptomatology, autophagy and metabolic regulation are crucial in immune cell f...

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Literature Corpus work: fa1b304e-d0e5-5997-a769-616a91642d5c
DOI: 10.21203/rs.3.rs-7329159/v1

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