PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes.

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Title: PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes.
Authors: Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA. s.radenkovic@umcutrecht.nl.; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands. s.radenkovic@umcutrecht.nl., Preston G; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, 10029, USA., Budhraja R; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Muffels I; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, 10029, USA., Ligezka A; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Staff NP; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA., Hrstka R; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA., Balakrishnan B; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, 84108, USA., Shah R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Renaissance School of Medicine, Stony Brook University, Stony Brook, NY, 11794, USA.; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, 10029, USA., Verberkmoes S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Shammas I; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Bosnyak I; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Department of Anatomy, University of Pecs Medical School, Pecs, 7624, Hungary., Stiers KM; Biochemistry Department, University of Missouri, Columbia, MO, 65211, USA., Lai K; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA., Beamer LJ; Biochemistry Department, University of Missouri, Columbia, MO, 65211, USA., Pandey A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.; Manipal Academy of Higher Education (MAHE), Manipal, Karnataka, 576104, India., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA. eva.morava@mssm.edu.; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands. eva.morava@mssm.edu.; Department of Biophysics, University of Pecs Medical School, Pecs, 7624, Hungary. eva.morava@mssm.edu., Kozicz T; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA. tamas.kozicz@mssm.edu.; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, 10029, USA. tamas.kozicz@mssm.edu.; Department of Anatomy, University of Pecs Medical School, Pecs, 7624, Hungary. tamas.kozicz@mssm.edu.
Source: Journal of translational medicine [J Transl Med] 2026 Feb 21; Vol. 24 (1). Date of Electronic Publication: 2026 Feb 21.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1479-5876
DOI:10.1186/s12967-026-07808-9