Faz Sentido Pensar nas Mutações Sem Sentido em Neurologia?
DOI:
https://doi.org/10.46531/sinapse/ED/230030/2023Palavras-chave:
Atalureno, Distrofia Muscular de Duchenne/genética, Doenças Genéticas Inatas, Mutação sem SentidoDownloads
Referências
Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University [consultado a 7 de maio 2023] Disponível em:https:// omim.org/
Mort M, Ivanov D, Cooper DN, Chuzhanova NA. A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat. 2008;29:1037-47. doi: 10.1002/ humu.20763.
Spelier S, van Doorn EM, van der Ent CK, Beekman JM, Koppens MJ. Readthrough compounds for nonsense mutations: bridging the translational gap. Trends Mol Med. 2023;29:297-314. doi: 10.1016/j.molmed.2023.01.004.
Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, et al. ACT DMD Study Group; Clinical Evaluator Training Groups. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020;9:973-84. doi: 10.2217/ cer-2020-0095.
Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3:285-98. doi: 10.1038/nrg775.
