Article

mTOR pathway inhibition stimulates pharmacologically induced nonsense suppression

2022-09-01

Abstract excerpt

<h4>ABSTRACT</h4> A large number of human genetic diseases result from premature termination codons (PTCs) caused by splicing defects, insertions, deletions or point mutations also termed nonsense mutations. Nonsense mutations are the source of various genetic diseases, ranging from rare neuro-metabolic disorders to relatively common inheritable cancer syndromes and muscular dystrophies. Over the years, a wide sp...

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Literature Corpus work: 74c59a57-be45-5ec7-b294-138f7685895c
DOI: 10.1101/2022.08.31.506003

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