{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T05:20:58Z","timestamp":1792819258560,"version":"4.5.0"},"reference-count":52,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:00:00Z","timestamp":1779321600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003793","name":"Swedish Heart-Lung Foundation","doi-asserted-by":"publisher","award":["20240524"],"award-info":[{"award-number":["20240524"]}],"id":[{"id":"10.13039\/501100003793","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","award":["2025-03309"],"award-info":[{"award-number":["2025-03309"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","award":["ALFGBG-1005700"],"award-info":[{"award-number":["ALFGBG-1005700"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","award":["ALFGBG-1027843"],"award-info":[{"award-number":["ALFGBG-1027843"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Western Sweden Muscle Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Glycogen storage diseases are inherited disorders of glycogen metabolism and are commonly associated with hypoglycemia, hepatic dysfunction, or skeletal and cardiac myopathy, depending on the affected enzyme. Glycogen storage disease type 15 (GSD15) is caused by pathogenic variants in GYG1, which encodes glycogenin-1, the autoglucosylating primer required for glycogen synthesis. GSD15 is characterized by cardiomyopathy and storage of abnormal glycogen and polyglucosan in cardiomyocytes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To understand the pathobiology of GSD15, we investigated the storage material in heart explants from 2 previously reported patients and described a new case of GSD15.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The characteristic storage material was investigated using laser capture microdissection followed by quantitative mass spectrometry (MS) and immunohistochemistry comparing differentially abundant proteins in the storage material with normal-appearing cytoplasmic regions from the same patient. Global protein dysregulation in GSD15 was assessed by quantitative MS of whole-myocardial tissue samples from patients and normal controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The storage material was enriched in proteins involved in glycogen metabolism, including glycogen synthase, UDP-glucose pyrophosphorylase 2, glycogenin-1, glycogen phosphorylase, and glycogen debranching enzyme. Sequestosome 1 (p62) and desmin were also enriched, without evidence of increased autophagocytosis. Whole-tissue analyses revealed upregulation of cardiomyopathy-associated biomarkers and downregulation of mitochondrial proteins, suggesting impaired energy metabolism contributing to congestive heart failure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In GSD15, storage of abnormal glycogen in cardiomyocytes is associated with enrichment of specific proteins involved in glycogen metabolism, contributing to dysregulation of glycogen turnover. This dysregulation results in polyglucosan accumulation, disruption of sarcomeric and mitochondrial architecture, and progressive fibrosis. No disease-modifying therapy currently exists for GSD15; future strategies based on substrate reduction, enhancement of autophagy, or gene therapy require further investigation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgag212","type":"journal-article","created":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T11:46:28Z","timestamp":1779277588000},"page":"3181-3195","source":"Crossref","is-referenced-by-count":1,"title":["Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (\n                    <i>GYG1<\/i>\n                    ) missense variants"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4800-8533","authenticated-orcid":false,"given":"Kittichate","family":"Visuttijai","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg , 413 90 Gothenburg ,","place":["Sweden"]},{"name":"Department of Clinical Pathology, 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Children's Health, Te Whatu Ora Health New Zealand , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2138-7633","authenticated-orcid":false,"given":"Clinton","family":"Turner","sequence":"additional","affiliation":[{"name":"Anatomical Pathology, Pathology and Laboratory Medicine, Auckland City Hospital, Te Whatu Ora Health New Zealand , Auckland 1060 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4243-0565","authenticated-orcid":false,"given":"Kristina","family":"Vukusic","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg , 413 90 Gothenburg ,","place":["Sweden"]},{"name":"Department of Clinical Chemistry, Sahlgrenska University Hospital , Region V\u00e4stra G\u00f6taland, 413 45 Gothenburg 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