{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Richard E"],"funding":["National Center for Advancing Translational Sciences","NCATS NIH HHS","National Institute on Alcohol Abuse and Alcoholism","Fundación Ramón Areces","Propionic Acidemia Foundation","NIAAA NIH HHS","Universidad Autónoma de Madrid"],"pagination":["137"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11965053"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["82(1)"],"pubmed_abstract":["Propionic acidemia is an inborn error of metabolism caused by mutations in either the PCCA or PCCB genes. Patients with propionic acidemia experience a range of complications, including life-threatening cardiac dysfunctions. However, the pathological mechanisms underlying propionic acidemia-associated cardiac diseases remain largely unknown. To gain insights into the metabolic alterations in propionic acidemia, we studied human induced pluripotent stem cell-derived cardiomyocytes generated from a patient with propionic acidemia with two pathogenic PCCA mutations (p.Cys616_Val633del and p.Gly477Glufs9*) and from a healthy individual. Using stable isotope-based metabolic flux analysis, we confirmed that the PCCA mutations lead to impaired propionyl-CoA carboxylase activity in human induced p"],"journal":["Cellular and molecular life sciences : CMLS"],"pubmed_title":["Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia."],"pmcid":["PMC11965053"],"funding_grant_id":["R01 AA030026","R21TR005163","R21 TR005163","PAF113","XX National Call 2020","NIH R01 AA030026"],"pubmed_authors":["Alvarez M","He W","Zhang GF","Richard E","Chen X","Marchuk H","Desviat LR"],"additional_accession":[]},"is_claimable":false,"name":"Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia.","description":"Propionic acidemia is an inborn error of metabolism caused by mutations in either the PCCA or PCCB genes. Patients with propionic acidemia experience a range of complications, including life-threatening cardiac dysfunctions. However, the pathological mechanisms underlying propionic acidemia-associated cardiac diseases remain largely unknown. To gain insights into the metabolic alterations in propionic acidemia, we studied human induced pluripotent stem cell-derived cardiomyocytes generated from a patient with propionic acidemia with two pathogenic PCCA mutations (p.Cys616_Val633del and p.Gly477Glufs9*) and from a healthy individual. Using stable isotope-based metabolic flux analysis, we confirmed that the PCCA mutations lead to impaired propionyl-CoA carboxylase activity in human induced p","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2026-05-28T03:15:45.086Z","creation":"2026-05-28T03:06:26.909Z"},"accession":"S-EPMC11965053","cross_references":{"pubmed":["40172673"],"doi":["10.1007/s00018-025-05661-5"]}}