Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism
(2023)
Journal Article
Loos, M., Klampe, B., Schulze, T., Yin, X., Theofilatos, K., Ulmer, B. M., …Hansen, A. (2023). Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism. Stem Cell Reports, 18(11), 2123-2137. https://doi.org/10.1016/j.stemcr.2023.09.002
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. PCD patients suffer from muscular weakness... Read More about Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism.