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Bärbel Maria Ulmer on Muck Rack

Bärbel Maria Ulmer

As seen in: Stem Cell Reports
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Articles

Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism

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By Thomas Schulze Verified, Bärbel Maria Ulmer, Carl Schulz
| Stem Cell Reports Verified
Highlights • Modeling of primary carnitine deficiency cardiomyopathy in hiPSC cardiomyocytes • Demonstration of low force and metabolic remodeling as key disease phenotype • Identification of ferroptosis and fibroblast activation as novel disease mechanisms Summary Primary carnitine deficiency (PCD) is an autosomal recessive monogenic disorder caused by mutations in SLC22A5. This gene encodes for OCTN2, which transports the essential metabolite carnitine into the cell.
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