CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation [PDF]
Nature CommunicationsThe gene therapy achieved by AAV-mediated otoferlin-overexpression is an effective therapeutic strategy for congenital deafness. However, achieving its physiological and endogenous patterns of expression remains challenging.
Hanxiao Sun +14 more
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Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process. [PDF]
PLoS Biology, 2023 The introduction of premature termination codons (PTCs), as a result of splicing defects, insertions, deletions, or point mutations (also termed nonsense mutations), lead to numerous genetic diseases, ranging from rare neuro-metabolic disorders to ...
Amnon Wittenstein +6 more
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Establishment and rescue of fibroblast cell lines carrying a nonsense mutation of RB1 by CRISPR-based base editing [PDF]
Scientific ReportsPathogenic variants of the RB1 gene have commonly been found in many cancer types, including retinoblastoma. Nonsense mutations are the most common mutation type in retinoblastoma; however, few cell lines mimic nonsense mutations in the RB1 gene that are
Youngri Jung +6 more
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Recoding of Nonsense Mutation as a Pharmacological Strategy. [PDF]
Biomedicines, 2023 Approximately 11% of genetic human diseases are caused by nonsense mutations that introduce a premature termination codon (PTC) into the coding sequence. The PTC results in the production of a potentially harmful shortened polypeptide and activation of a nonsense-mediated decay (NMD) pathway.
Temaj G +5 more
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Cohen syndrome due to a novel VPS13B mutation in a Chinese family
Journal of Neurorestoratology, 2022 We present the case of a novel homozygous nonsense (c.4846C > T [p.R1616X]) mutation in the VPS13B in a Chinese boy with the primary symptoms of Cohen syndrome.
Shu-ying Cai +5 more
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Biomedicines, 2023 (1) Background: A premature termination codon (PTC) can be induced by a type of point mutation known as a nonsense mutation, which occurs within the coding region. Approximately 3.8% of human cancer patients have nonsense mutations of p53.
Chia-Chi Chen +12 more
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Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases. [PDF]
PLoS ONE, 2017 About 10% of patients with a genetic disease carry a nonsense mutation causing their pathology. A strategy for correcting nonsense mutations is premature termination codon (PTC) readthrough, i.e.
Hana Benhabiles +10 more
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A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. [PDF]
PLoS ONE, 2018 Nonsense mutations are present in 10% of patients with CF, produce a premature termination codon in CFTR mRNA causing early termination of translation, and lead to lack of CFTR function.
Daniel R McHugh +9 more
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Identifying Potent Nonsense-Mediated mRNA Decay Inhibitors with a Novel Screening System
Biomedicines, 2023 Nonsense-mediated mRNA decay (NMD) is a quality control mechanism that degrades mRNAs carrying a premature termination codon. Its inhibition, alone or in combination with other approaches, could be exploited to develop therapies for genetic diseases ...
Julie Carrard +11 more
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Stem Cell Research, 2023 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by neuropsychiatric symptoms and multiple dysplastic organ lesions, caused by loss of function mutations in either TSC1 or TSC2.
Hiroki Ura +4 more
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