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Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot–Marie–Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in <i>GDAP1</i> Gene

Nonsense mutations are involved in multiple peripheral neuropathies. These mutations induce the presence of a premature termination codon (PTC) at the mRNA level. As a result, a dysfunctional or truncated protein is synthesized, or even absent linked to nonsense-mediated mRNA degradation (NMD) syste...

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Principais autores: Nesrine Benslimane, Federica Miressi, Camille Loret, Laurence Richard, Angélique Nizou, Ioanna Pyromali, Pierre-Antoine Faye, Frédéric Favreau, Fabrice Lejeune, Anne-Sophie Lia
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2023-07-01
Serier:Pharmaceuticals
Fag:
GDAP1
CMT disease
nonsense mutation
nonsense-mediated decay (NMD)
readthrough molecules
premature termination codon (PTC)
Online adgang:https://www.mdpi.com/1424-8247/16/7/1034
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