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Article

PITX2 induction leads to impaired cardiomyocyte function in arrhythmogenic cardiomyopathy.

Stem cell reports - 14 Mar 2023

van Kampen Sebastiaan J, Han Su Ji, van Ham Willem B, Kyriakopoulou Eirini, Stouthart Elizabeth W, Goversen Birgit, Monshouwer-Kloots Jantine, Perini Ilaria, de Ruiter Hesther, van der Kraak Petra, Vink Aryan, van Laake Linda W, Groeneweg Judith A, de Boer Teun P, Tsui Hoyee, Boogerd Cornelis J, van Veen Toon A B, van Rooij Eva

Abstract excerpt

Arrhythmogenic cardiomyopathy (ACM) is an inherited progressive disease characterized by electrophysiological and structural remodeling of the ventricles. However, the disease-causing molecular pathways, as a consequence of desmosomal mutations, are poorly understood. Here, we identified a novel missense mutation within desmoplakin in a patient clinically diagnosed with ACM. Using CRISPR-Cas9, we corrected this...

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Identifiers

PMID: 36868229
DOI: 10.1016/j.stemcr.2023.01.015
PMCID: PMC10031305

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