Article
Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
Proceedings of the National Academy of Sciences of the United States of America - 6 Jun 2023
Landim-Vieira Maicon, Ma Weikang, Song Taejeong, Rastegarpouyani Hosna, Gong Henry, Coscarella Isabella Leite, Bogaards Sylvia J P, Conijn Stefan P, Ottenheijm Coen A C, Hwang Hyun S, Papadaki Maria, Knollmann Bjorn C, Sadayappan Sakthivel, Irving Thomas C, Galkin Vitold E, Chase P Bryant, Pinto Jose Renato
Abstract excerpt
Missense variant Ile79Asn in human cardiac troponin T (cTnT-I79N) has been associated with hypertrophic cardiomyopathy and sudden cardiac arrest in juveniles. cTnT-I79N is located in the cTnT N-terminal (TnT1) loop region and is known for its pathological and prognostic relevance. A recent structural study revealed that I79 is part of a hydrophobic interface between the TnT1 loop and actin, which stabilizes the...
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