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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
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  Data: PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes.
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  Data: <searchLink fieldCode="AU" term="%22Radenkovic+S%22">Radenkovic S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Preston+G%22">Preston G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Budhraja+R%22">Budhraja R</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.<br /><searchLink fieldCode="AU" term="%22Muffels+I%22">Muffels I</searchLink>; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, 10029, USA.<br /><searchLink fieldCode="AU" term="%22Ligezka+A%22">Ligezka A</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.<br /><searchLink fieldCode="AU" term="%22Staff+NP%22">Staff NP</searchLink>; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.<br /><searchLink fieldCode="AU" term="%22Hrstka+R%22">Hrstka R</searchLink>; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.<br /><searchLink fieldCode="AU" term="%22Balakrishnan+B%22">Balakrishnan B</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, 84108, USA.<br /><searchLink fieldCode="AU" term="%22Shah+R%22">Shah R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Verberkmoes+S%22">Verberkmoes S</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.<br /><searchLink fieldCode="AU" term="%22Shammas+I%22">Shammas I</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.<br /><searchLink fieldCode="AU" term="%22Bosnyak+I%22">Bosnyak I</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Department of Anatomy, University of Pecs Medical School, Pecs, 7624, Hungary.<br /><searchLink fieldCode="AU" term="%22Stiers+KM%22">Stiers KM</searchLink>; Biochemistry Department, University of Missouri, Columbia, MO, 65211, USA.<br /><searchLink fieldCode="AU" term="%22Lai+K%22">Lai K</searchLink>; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.<br /><searchLink fieldCode="AU" term="%22Beamer+LJ%22">Beamer LJ</searchLink>; Biochemistry Department, University of Missouri, Columbia, MO, 65211, USA.<br /><searchLink fieldCode="AU" term="%22Pandey+A%22">Pandey A</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.; Manipal Academy of Higher Education (MAHE), Manipal, Karnataka, 576104, India.<br /><searchLink fieldCode="AU" term="%22Morava+E%22">Morava E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kozicz+T%22">Kozicz T</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101190741%22">Journal of translational medicine</searchLink> [J Transl Med] 2026 Feb 21; Vol. 24 (1). <i>Date of Electronic Publication: </i>2026 Feb 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101190741 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-5876 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214795876%22">14795876 </searchLink><i>NLM ISO Abbreviation: </i>J Transl Med <i>Subsets: </i>MEDLINE
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