Associated Papers
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1
Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations.
Al-Asmari A et al.
Saudi Journal of Biological Sciences, 2022
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
Sánchez-Alcudia R et al.
Human Mutation, 2012
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0
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