ArticleEuropean journal of human genetics : EJHG2010
In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- Ataluren treatment of patients with nonsense mutation dystrophinopathy.Muscle & nerve · 2014Trial
- Severe Suprasystemic Refractory Pulmonary Hypertension in a Neonate with Stüve-Wiedemann Syndrome Associated with Biallelic LIFR Variants: Molecular Insights and a Neonatal Case Report.International journal of molecular sciences · 2026Article
- Therapeutic promise of engineered nonsense suppressor tRNAs.Wiley interdisciplinary reviews. RNA · 2021Review
- Absence of p.R50XDisease models & mechanisms · 2020Article
- Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons.Molecular medicine (Cambridge, Mass.) · 2018Review
- Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.RNA biology · 2016Article
- Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.Molecular syndromology · 2016Review
- Structure-Activity Relationship Studies of 3-epi-Deoxynegamycin Derivatives as Potent Readthrough Drug Candidates.ACS medicinal chemistry letters · 2015Article
- Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.PloS one · 2015Article
- Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Human mutation · 2014Article
- Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.Orphanet journal of rare diseases · 2014Review
- Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Ataluren as an agent for therapeutic nonsense suppression.Annual review of medicine · 2013Review
- Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.Molecular syndromology · 2012Article
- Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides.Nucleic acids research · 2011Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Stüve-Wiedemann Syndrome (SWS) is a frequently lethal chondrodysplasia caused by null mutations in the leukemia inhibitory factor receptor gene (LIFR) responsible for an impaired activation of the JAK-STAT pathway after LIF stimulation. Most LIFR mutations are nonsense mutations, thus prompting us to investigate the impact of aminoglycosides on the readthrough of premature termination codons (PTCs). Culturing skin fibroblasts from three SWS patients and controls for 48 h in the presence of gentamycin (200-500 microg/ml) partially restored the JAK-STAT3 pathway when stimulated by LIF. Consistently, quantitative RT-PCR analysis showed that gentamycin stabilized LIFR mRNAs carrying UGA premature termination codons. We conclude that high gentamycin concentrations can partially restore functional LIFR protein synthesis in vitro, prompting us to investigate PTC readthrough using less toxic and more efficient drugs in this presently untreatable lethal condition.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.