Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC cardiomyocytes.

doi:10.1016/j.yjmcc.2026.08.001

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Article

Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC cardiomyocytes.

Journal of molecular and cellular cardiology - 1 Sept 2026

Erdal Magnhild Sekse, Qi Jing, Erusappan Pugazendhi M, Schubert Mario, Koser Franziska, Basson Adelle, Fischer Konstanze, Dzekhtsiarova Yuliya, Mehnert Carola, Poetsch Mareike, Fomin Andrey, Hou Yufeng, Laasmaa Martin, Ugland Hege K, Lunde Ida G, Gautel Mathias, Longman Cheryl, Jungbluth Heinz, Sundnes Joakim, Linke Wolfgang A, Guan Kaomei, Louch William E, Li Jia

Abstract excerpt

Biallelic titin truncation variants (TTNtvs) are linked to severe cardiac and skeletal muscle diseases, due to unclear mechanisms. Using induced pluripotent stem cell-derived cardiomyocytes from a biallelic TTNtv patient with dilated cardiomyopathy, we investigated sarcomere structure/function. Only the longest of the TTNtvs was detected as protein, and this nearly full-length titin was incorporated into the...

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PMID: 42570788
DOI: 10.1016/j.yjmcc.2026.08.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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