{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Conte F"],"funding":["Prinses Beatrix Spierfonds","Dutch Research Council (NWO)","Stichting Stofwisselkracht","UMD"],"pagination":["8247"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10179458"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(9)"],"pubmed_abstract":["Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder characterized by a highly heterogenous clinical spectrum, including hypoglycemia, cleft palate, liver dysfunction, growth delay, exercise intolerance, and dilated cardiomyopathy. Abnormal protein glycosylation has been observed in this disease. Oral supplementation with D-galactose efficiently restores protein glycosylation by replenishing the lacking pool of UDP-galactose, and rescues some symptoms, such as hypoglycemia, hepatopathy, and growth delay. However, D-galactose effects on skeletal muscle and heart symptoms remain unclear. In this stu"],"journal":["International journal of molecular sciences"],"pubmed_title":["In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis."],"pmcid":["PMC10179458"],"funding_grant_id":["Catalyst grant UMD-CG-2020-006","Grant W.OR17-15","VIDI Grant 91713359","Grant no. 2019-2766-001"],"pubmed_authors":["Huijben K","Noga MJ","Mijdam R","Panneman DM","Rodenburg RJT","Post MA","Ashikov A","Voermans NC","Conte F","van Scherpenzeel M","Lefeber DJ","Veizaj R","Mahalleh-Yousefi SP","Koopman WJH","Wessels HJCT","van de Ven EGP","Garanto A"],"additional_accession":[]},"is_claimable":false,"name":"In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.","description":"Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder characterized by a highly heterogenous clinical spectrum, including hypoglycemia, cleft palate, liver dysfunction, growth delay, exercise intolerance, and dilated cardiomyopathy. Abnormal protein glycosylation has been observed in this disease. Oral supplementation with D-galactose efficiently restores protein glycosylation by replenishing the lacking pool of UDP-galactose, and rescues some symptoms, such as hypoglycemia, hepatopathy, and growth delay. However, D-galactose effects on skeletal muscle and heart symptoms remain unclear. In this stu","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 May","modification":"2026-05-10T03:08:26.556Z","creation":"2025-04-05T21:09:24.547Z"},"accession":"S-EPMC10179458","cross_references":{"pubmed":["37175952"],"doi":["10.3390/ijms24098247"]}}