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Article

Loss of crossbridge inhibition drives pathological cardiac hypertrophy in patients harboring the TPM1 E192K mutation.

The Journal of general physiology - 6 Sept 2021

Sewanan Lorenzo R, Park Jinkyu, Rynkiewicz Michael J, Racca Alice W, Papoutsidakis Nikolaos, Schwan Jonas, Jacoby Daniel L, Moore Jeffrey R, Lehman William, Qyang Yibing, Campbell Stuart G

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is an inherited disorder caused primarily by mutations to thick and thinfilament proteins. Although thin filament mutations are less prevalent than their oft-studied thick filament counterparts, they are frequently associated with severe patient phenotypes and can offer important insight into fundamental disease mechanisms. We have performed a detailed study of tropomyosin (TPM1)...

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Identifiers

PMID: 34319370
DOI: 10.1085/jgp.202012640
PMCID: PMC8321830

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