Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations

Dennis Lebeda, Adrian Fierenz, Lina Werfel,Rina Rosin-Arbesfeld,Julia Hofhuis,Sven Thoms

Journal of Molecular Medicine（2024）

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摘要

Rett syndrome (RTT) is a neurodevelopmental disorder resulting from genetic mutations in the methyl CpG binding protein 2 (MeCP2) gene. Specifically, around 35

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关键词

Translational readthrough,Rare disease,Rett syndrome,MeCP2,Personalized medicine,Aminoglycoside

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