Does it Make Sense to Think about Nonsense Mutations in Neurology?

Authors

DOI:

https://doi.org/10.46531/sinapse/ED/230030/2023

Keywords:

Ataluren, Codon, Nonsense, Genetic Diseases, Inborn, Muscular Dystrophy, Duchenne/genetics

Downloads

Download data is not yet available.

References

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.

Published

2023-05-19

How to Cite

1.
Rodrigues M. Does it Make Sense to Think about Nonsense Mutations in Neurology?. Sinapse [Internet]. 2023 May 19 [cited 2024 Apr. 29];23(1):4-5. Available from: https://sinapse.pt/index.php/journal/article/view/27