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CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by TTN Truncation Variants

18 Jan 2024

Abstract excerpt

BACKGROUND: TTN truncation variants (TTNtvs) are the most common genetic lesion identified in individuals with dilated cardiomyopathy, a disease with high morbidity and mortality rates. TTNtvs reduce normal TTN (titin) protein levels, produce truncated proteins, and impair sarcomere content and function. Therapeutics targeting TTNtvs have been elusive because of the immense size of TTN, the rarity of specific...

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PMID: 38235591
DOI: 10.1161/circulationaha.123.063972

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