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Effects of heterozygous SMG1 mutations on nonsense-mediated mRNA decay in human pluripotent stem cell model

ABSTRACT: Nonsense-mediated mRNA decay (NMD) eliminates transcripts containing premature termination codons, thereby preventing errors in protein synthesis. Serine/threonine-protein kinase SMG1 is a crucial kinase for NMD response, interacting with other regulatory proteins such as SMG8 and SMG9. We...

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Furkejuvvon:
Váldodahkkit: Chanyoung Lee, Jin Sook Lee, Yejin Kwon, Aeri Shin, Tae Yeong Jeong, Jiyun Yang, Jung Woo Hwang, Hyeong-In Kim, Hee-Jung Choi, Yoon Ki Kim, Murim Choi, Kyoungmi Kim, Woong Sun, Jong-Hee Chae
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Elsevier 2025-07-01
Ráidu:Molecules and Cells
Fáttát:
CRISPR/Cas9
Kinase
Neural organoids
Nonsense-mediated mRNA decay activity
Prime editing
Liŋkkat:http://www.sciencedirect.com/science/article/pii/S1016847825000494
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