ArticleMolecular therapy : the journal of the American Society of Gene Therapy2025
A precision medicine approach to primary immunodeficiency disease: Ataluren strikes nonsense mutations once again.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Rescuing TP53 from nonsense: novel triazoles for translational readthrough via optimized drug design.Scientific reports · 2026Article
- Beyond the stop: Oxadiazole TRIDs restore LRBA protein expression in nonsense-driven primary immunodeficiency.Molecular therapy. Nucleic acids · 2026Article
- Computational Strategies Reshaping Modern Drug Discovery.Molecules (Basel, Switzerland) · 2026Article
- New Sights into Bioinformatics of Gene Regulations and Structure.International journal of molecular sciences · 2025Article
- Beyond the bench: Revitalizing ataluren development for rare genetic disorders.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
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Authors and funding
15 authors.
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Abstract
Primary immunodeficiency diseases (PIDs) are associated with multiple genetic alterations including mutations of the lipopolysaccharide responsive Beige anchor (LRBA) gene. Nonsense mutations in the LRBA gene resulting in premature termination codons cause the loss of LRBA protein expression in PID. We evaluated the impact of a translational readthrough-inducing drug (TRID) ataluren as a nonsense suppression therapy in a PID patient with a homozygous stop codon mutation in exon 30 of LRBA. A precision medicine approach allowed us to pass from "in silico" to "in vitro" to the "bedside": following the in vitro treatment of patient-derived primary fibroblasts with ataluren, we observed a restoration of the LRBA protein expression and localization. In silico predictions suggested LRBA retained function after readthrough. Based on the successful experimental and computational results we treated the patient with ataluren resulting in an improvement of his clinical symptoms and quality of life. Importantly, the clinical symptoms were associated with a recovery of LRBA expression in liver biopsies post-treatment compared with pre-treatment. Our results provide a proof of concept demonstrating that ataluren, can rescue LRBA expression in PID. This work highlights the potential for personalized precision medicine approaches to be exploited for different genetic diseases due to premature termination codons.
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