ReviewCellular and molecular life sciences : CMLS2015
Nonsense suppression therapies in ocular genetic diseases.
Review in Cellular and molecular life sciences : CMLS, 2015. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3.Heliyon · 2023Article
- RNA-based therapies in animal models of Leber congenital amaurosis causing blindness.Precision clinical medicine · 2020Article
- Molecular Approaches for the Treatment of Pompe Disease.Molecular neurobiology · 2020Review
- Screening Readthrough Compounds to Suppress Nonsense Mutations: Possible Application to β-Thalassemia.Journal of clinical medicine · 2020Review
- How to get away with nonsense: Mechanisms and consequences of escape from nonsense-mediated RNA decay.Wiley interdisciplinary reviews. RNA · 2020Review
- A Review of Gene, Drug and Cell-Based Therapies for Usher Syndrome.Frontiers in cellular neuroscience · 2020Article
- Stop codons and the +4 nucleotide may influence the efficiency of G418 in rescuing nonsense mutations of the HERG gene.International journal of molecular medicine · 2019Article
- Prospects and modalities for the treatment of genetic ocular anomalies.Human genetics · 2019Review
- The genetic architecture of aniridia and Gillespie syndrome.Human genetics · 2019Review
- Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish.PloS one · 2019Article
- Spectrum of mutations in theMolecular vision · 2019Article
- Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.PloS one · 2017Article
- Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.Diseases (Basel, Switzerland) · 2016Article
- Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.Experimental eye research · 2016Article
- Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Birth defects research. Part C, Embryo today : reviews · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Premature termination codons (PTCs) are caused by nonsense mutations and this leads to either degradation of the mutant mRNA template by nonsense-mediated decay (NMD) or the production of a non-functional, truncated polypeptide. PTCs contribute significantly to inherited human diseases including ocular disorders. Nonsense suppression therapy allows readthrough of PTCs, thereby rescuing the production of a full-length functional protein. In this review, we highlight the mechanisms that are involved in discriminating normal translation termination from premature termination codons; the current understanding of nonsense-mediated mRNA decay models (NMD); the association and crosstalk between PTC and the underlying dynamic NMD process; and the suppression therapies that have been employed in nonsense-medicated ocular disease models. Defining the mechanistic complexity of PTC and NMD will be important to improve treatments of the numerous genetic disorders caused by PTC mutations.
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Registered trials
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.