Readthrough compounds for nonsense mutations: bridging the translational gap.
Trends Mol Med
; 29(4): 297-314, 2023 04.
Article
em En
| MEDLINE
| ID: mdl-36828712
ABSTRACT
Approximately 10% of all pathological mutations are nonsense mutations that are responsible for several severe genetic diseases for which no treatment regimens are currently available. The most widespread strategy for treating nonsense mutations is by enhancing ribosomal readthrough of premature termination codons (PTCs) to restore the production of the full-length protein. In the past decade several compounds with readthrough potential have been identified. However, although preclinical results on these compounds are promising, clinical studies have not yielded positive outcomes. We review preclinical and clinical research related to readthrough compounds and characterize factors that contribute to the observed translational gap.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ribossomos
/
Códon sem Sentido
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Trends Mol Med
Ano de publicação:
2023
Tipo de documento:
Article