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Article

From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.

International journal of molecular sciences - 5 Aug 2023

Sánchez-Porras Valentina, Guevara-Morales Johana Maria, Echeverri-Peña Olga Yaneth

Abstract excerpt

Pompe disease (PD) is caused by mutations in the GAA gene, which encodes the lysosomal enzyme acid alpha-glucosidase, causing lysosomal glycogen accumulation, mainly in muscular tissue. Autophagic buildup is considered the main factor affecting skeletal muscle, although other processes are also involved. Uncovering how these mechanisms are interconnected could be an approximation to address long-lasting concerns,...

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Source

Open in PubMed Open full text

Identifiers

PMID: 37569856
DOI: 10.3390/ijms241512481
PMCID: PMC10419125

Genes

GAA
MCOLN1
PGC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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