{"entity": "researcher", "timestamp": "2026-07-17T17:07:25.459Z", "family": "Oldfors", "given": "Anders", "initials": "A", "orcid": "0000-0003-2523-1414", "affiliations": ["Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden"], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/864bc00c4e234e2aa204e697a9b1d434.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/864bc00c4e234e2aa204e697a9b1d434"}}, "publications": [{"entity": "publication", "iuid": "3553724077584c49885e0ab9f66ec2a2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3553724077584c49885e0ab9f66ec2a2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3553724077584c49885e0ab9f66ec2a2"}}, "title": "Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.", "authors": [{"family": "Visuttijai", "given": "Kittichate", "initials": "K", "orcid": "0000-0002-4800-8533", "researcher": {"href": "https://publications.scilifelab.se/researcher/f41f59ad2b0a4e1c95b0cc9cf109f6fa.json"}}, {"family": "Hedberg-Oldfors", "given": "Carola", "initials": "C", "orcid": "0000-0002-7141-4185", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc67028bf0c04f1b9a73bac5e72f9897.json"}}, {"family": "Thomsen", "given": "Christer", "initials": "C"}, {"family": "Glamuzina", "given": "Emma", "initials": "E"}, {"family": "Kornblum", "given": "Cornelia", "initials": "C"}, {"family": "Tasca", "given": "Giorgio", "initials": "G", "orcid": "0000-0003-0849-9144", "researcher": {"href": "https://publications.scilifelab.se/researcher/17e4a6c07f204fb7953350d6b56f3a03.json"}}, {"family": "Hernandez-Lain", "given": "Aurelio", "initials": "A", "orcid": "0000-0002-1933-2238", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b0d26958db04abf8f9240d48a89ec0a.json"}}, {"family": "Sandstedt", "given": "Joakim", "initials": "J", "orcid": "0000-0002-6458-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/070e186990424c4b83225eb93efc2a66.json"}}, {"family": "Dellgren", "given": "G\u00f6ran", "initials": "G"}, {"family": "Roach", "given": "Peter", "initials": "P"}, {"family": "Oldfors", "given": "Anders", "initials": "A", "orcid": "0000-0003-2523-1414", "researcher": {"href": "https://publications.scilifelab.se/researcher/864bc00c4e234e2aa204e697a9b1d434.json"}}], "type": "journal article", "published": "2020-02-01", "journal": {"title": "J. Clin. Endocrinol. Metab.", "issn": "1945-7197", "volume": "105", "issue": "2", "pages": "557-566", "issn-l": "0021-972X"}, "abstract": "Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle. Glycogenin-2 has been suggested as an alternative primer for glycogen synthesis in patients with glycogenin-1 deficiency.\n\nThe objective of this article is to investigate the importance of glycogenin-1 and glycogenin-2 for glycogen synthesis in skeletal and cardiac muscle.\n\nGlycogenin-1 and glycogenin-2 expression was analyzed by Western blot, mass spectrometry, and immunohistochemistry in liver, heart, and skeletal muscle from controls and in skeletal and cardiac muscle from patients with glycogenin-1 deficiency.\n\nGlycogenin-1 and glycogenin-2 both were found to be expressed in the liver, but only glycogenin-1 was identified in heart and skeletal muscle from controls. In patients with truncating GYG1 mutations, neither glycogenin-1 nor glycogenin-2 was expressed in skeletal muscle. However, nonfunctional glycogenin-1 but not glycogenin-2 was identified in cardiac muscle from patients with cardiomyopathy due to GYG1 missense mutations. By immunohistochemistry, the mutated glycogenin-1 colocalized with the storage of glycogen and polyglucosan in cardiomyocytes.\n\nGlycogen can be synthesized in the absence of glycogenin, and glycogenin-1 deficiency is not compensated for by upregulation of functional glycogenin-2. Absence of glycogenin-1 leads to the focal accumulation of glycogen and polyglucosan in skeletal muscle fibers. Expression of mutated glycogenin-1 in the heart is deleterious, and it leads to storage of abnormal glycogen and cardiomyopathy.", "doi": "10.1210/clinem/dgz075", "pmid": "31628455", "labels": {"Glycoproteomics and MS Proteomics": "Service"}, "xrefs": [{"db": "pii", "key": "5599738"}, {"db": "pmc", "key": "PMC7046021"}], "notes": [], "created": "2020-01-30T15:58:42.481Z", "modified": "2024-01-16T13:46:30.988Z"}]}