Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay

Summary: The phenotypic impact of nonsense variants is determined by nonsense-mediated mRNA decay (NMD), which degrades transcripts with premature termination codons (PTCs). Despite the clinical importance of nonsense variants, transcript-specific and context-dependent variations in NMD activity rem...

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Hlavní autoři:	Divya Kolakada, Rui Fu, Nikita Biziaev, Alexey Shuvalov, Mlana Lore, Amy E. Campbell, Michael A. Cortázar, Marcin P. Sajek, Jay R. Hesselberth, Neelanjan Mukherjee, Elena Alkalaeva, Zeynep H. Coban-Akdemir, Sujatha Jagannathan
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2025-07-01
Edice:	Cell Genomics
Témata:	NMD PTC translation termination splicing loss-of-function
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2666979X25001387
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