Article
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.
Nature cardiovascular research - 1 Jan 2026
Murphy Michael R, Ganapathi Mythily, Rotlevi Esther R, Lee Teresa M, Fisher Joshua M, Patel Megha V, Jayakar Parul, Buchanan Amanda, Rippert Alyssa L, Ahrens-Nicklas Rebecca C, Nair Divya, Nayak Shalini S, Anand Aakanksha, Shukla Anju, Soni Rajesh K, Yin Yue, Yang Feiyue, Garcia Enrique J, Reilly Muredach P, Chung Wendy K, Wu Xuebing
Abstract excerpt
The heart uses a muscle-specific ribosome in cardiomyocytes, where the ribosomal protein RPL3 is replaced by its paralog RPL3L. Rare biallelic RPL3L mutations cause fatal neonatal dilated cardiomyopathy, yet the mechanisms that link genotype to heart failure are unclear. Despite the recessive inheritance pattern in humans, Rpl3l knockout mice show no overt cardiac phenotype, probably because of compensatory RPL3...
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