Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination

Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination

Genetic variants that introduce premature termination codons (PTCs) have remained difficult to therapeutically target due to lack of protein product. Nonsense mediated mRNA decay (NMD) targets PTC-bearing transcripts to reduce the potentially damaging effects of truncated proteins. Readthrough compo...

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Bibliographic Details
Main Authors: Alyssa Bowling, Alice Eastman, Christian Merlo, Gabrielle Lin, Natalie West, Shivani Patel, Garry Cutting, Neeraj Sharma
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Journal of Personalized Medicine
Subjects:
alternate start
NMD
readthrough
CFTR correctors
CFTR potentiators
transcript stability
Online Access:https://www.mdpi.com/2075-4426/12/9/1448

Internet

https://www.mdpi.com/2075-4426/12/9/1448

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