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

• 主要な著者: Nesrine Benslimane (著者), Federica Miressi (著者), Camille Loret (著者), Laurence Richard (著者), Angélique Nizou (著者), Ioanna Pyromali (著者), Pierre-Antoine Faye (著者), Frédéric Favreau (著者), Fabrice Lejeune (著者), Anne-Sophie Lia (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2023-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...