{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T04:08:32Z","timestamp":1782014912817,"version":"3.54.5"},"reference-count":54,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2023,8,5]],"date-time":"2023-08-05T00:00:00Z","timestamp":1691193600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Pontificia Universidad Javeriana","award":["00010521"],"award-info":[{"award-number":["00010521"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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, like the differential skeletal and cardiac involvement in each clinical phenotype. In this sense, a network reconstruction based on a comprehensive literature review of evidence found in PD enriched with the STRING database and other scientific articles is presented. The role of autophagic lysosome reformation, PGC-1\u03b1, MCOLN1, calcineurin, and Keap1 as intermediates between the events involved in the pathologic cascade is discussed and contextualized within their relationship with mTORC1\/AMPK. The intermediates and mechanisms found open the possibility of new hypotheses and questions that can be addressed in future experimental studies of PD.<\/jats:p>","DOI":"10.3390\/ijms241512481","type":"journal-article","created":{"date-parts":[[2023,8,5]],"date-time":"2023-08-05T10:21:39Z","timestamp":1691230899000},"page":"12481","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease"],"prefix":"10.3390","volume":"24","author":[{"given":"Valentina","family":"S\u00e1nchez-Porras","sequence":"first","affiliation":[{"name":"Instituto de Errores Innatos del Metabolismo, Facultad de Ciencias, Pontificia Universidad Javeriana, Carrera 7 # 43-82, Ed. 54, Lab 303A, Bogot\u00e1 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9467-4430","authenticated-orcid":false,"given":"Johana Maria","family":"Guevara-Morales","sequence":"additional","affiliation":[{"name":"Instituto de Errores Innatos del Metabolismo, Facultad de Ciencias, Pontificia Universidad Javeriana, Carrera 7 # 43-82, Ed. 54, Lab 303A, Bogot\u00e1 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9704-6387","authenticated-orcid":false,"given":"Olga Yaneth","family":"Echeverri-Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Instituto de Errores Innatos del Metabolismo, Facultad de Ciencias, Pontificia Universidad Javeriana, Carrera 7 # 43-82, Ed. 54, Lab 303A, Bogot\u00e1 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.ymgme.2019.11.005","article-title":"Links between autophagy and disorders of glycogen metabolism\u2014Perspectives on pathogenesis and possible treatments","volume":"129","author":"Farah","year":"2020","journal-title":"Mol. 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