PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes
Our data suggests PGM1 is key regulator of cardiomyocyte function, linking sarcomeric Z-disk integrity with mitochondrial metabolism. These mechanistic insights offer a foundation for developing targeted therapies for PGM1-CDG and potentially other cardiomyopathies involving Z-disk dysfunction.
Authors
- Kent Lai (ORCID: https://orcid.org/0000-0002-2377-9905)
- Eva Morava
- Akhilesh Pandey (ORCID: https://orcid.org/0000-0001-9943-6127)
- Graeme Preston (ORCID: https://orcid.org/0000-0001-6810-9326)
- Irena Josephina Johanna Muffels (ORCID: https://orcid.org/0000-0002-4335-5034)
- Ron F. Hrstka (ORCID: https://orcid.org/0000-0002-8833-5061)
- T. Kozicz
- Inez Bosnyák
- Ibrahim Shammas (ORCID: https://orcid.org/0000-0002-1486-9722)
- Silvia Radenkovic (ORCID: https://orcid.org/0000-0001-8190-7736)
- Nathan P. Staff (ORCID: https://orcid.org/0000-0001-6760-3859)
- Kyle M. Stiers (ORCID: https://orcid.org/0000-0001-5542-022X)
- Sanne Verberkmoes
- Rohit Budhraja
- Rameen Shah
- Anna Ligezka
- Bijina Balakrishnan
Institutions
- Mayo Clinic (US)
- Manipal Academy of Higher Education (IN)
- Utrecht University (NL)
- University of Utah (US)
- WinnMed (US)
- Stony Brook School (US)
- Mayo Clinic in Arizona (US)
- Mayo Clinic in Florida (US)
- Stony Brook University (US)
- University of Missouri (US)
- University of Pecs (HU)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2026-02-21
- DOI
- https://doi.org/10.1186/s12967-026-07808-9
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00