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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 GDAP1 Gene.
Benslimane N, Miressi F, Loret C, Richard L, Nizou A, Pyromali I, Faye PA, Favreau F, Lejeune F, Lia AS. Benslimane N, et al. Among authors: pyromali i. Pharmaceuticals (Basel). 2023 Jul 21;16(7):1034. doi: 10.3390/ph16071034. Pharmaceuticals (Basel). 2023. PMID: 37513945 Free PMC article.
A mutation can hide another one: Think Structural Variants!
Miressi F, Faye PA, Pyromali I, Bourthoumieux S, Derouault P, Husson M, Favreau F, Sturtz F, Magdelaine C, Lia AS. Miressi F, et al. Among authors: pyromali i. Comput Struct Biotechnol J. 2020 Aug 2;18:2095-2099. doi: 10.1016/j.csbj.2020.07.021. eCollection 2020. Comput Struct Biotechnol J. 2020. PMID: 32832037 Free PMC article.
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
Pyromali I, Perani A, Nizou A, Benslimane N, Derouault P, Bourthoumieu S, Fradin M, Sole G, Duval F, Gomes C, Favreau F, Sturtz F, Magdelaine C, Lia AS. Pyromali I, et al. Comput Struct Biotechnol J. 2021 Jul 30;19:4265-4272. doi: 10.1016/j.csbj.2021.07.037. eCollection 2021. Comput Struct Biotechnol J. 2021. PMID: 34429846 Free PMC article.