Article

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

2022-08-11

Abstract excerpt

<title>Abstract</title> <p>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 and dilated cardiomyopathy. Detailed molecular disease mechanisms remain unclear. Two OCTN2-defective human induced pluripotent stem cell l...

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Literature Corpus work: f239fbfb-f34f-54cf-8b8e-5a5a3f3c83ff
DOI: 10.21203/rs.3.rs-1880728/v1

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