Article

The p.H222P lamin A/C mutation induces heart failure via impaired mitochondrial calcium uptake in human cardiac laminopathy

2024-08-23

Abstract excerpt

<h4>Background: </h4> Mutations in the LMNA gene, which encodes lamin A/C, cause a variety of diseases known as laminopathies. Some mutations are particularly associated with the occurrence of dilated cardiomyopathy and heart failure, but the genotype-phenotype relationship and underlying mechanisms are unclear. Here, we used induced pluripotent stem cells (hiPSCs) from a patient carrying a LMNA point mutation (c....

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Literature Corpus work: f7755539-464b-564f-b2f4-8cfa77ae6bb1
DOI: 10.1101/2024.08.21.609073

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