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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Rescue of nonsense mutations by amlexanox in human cells [PDF]
Orphanet Journal of Rare Diseases, 2012 Background Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA surveillance mechanism called nonsense ...
Gonzalez-Hilarion Sara +9 more
doaj +7 more sources
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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A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124 [PDF]
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
doaj +2 more sources
A Nonsense Mutation in MSX1 Causes Witkop Syndrome [PDF]
The American Journal of Human Genetics, 2001 Witkop syndrome, also known as tooth and nail syndrome (TNS), is a rare autosomal dominant disorder. Affected individuals have nail dysplasia and several congenitally missing teeth. To identify the gene responsible for TNS, we used candidate-gene linkage analysis in a three-generation family affected by the disorder.
Dolrudee Jumlongras +9 more
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A Hox gene mutation that triggers nonsense-mediated RNA decay and affects alternative splicing during Drosophila development [PDF]
, 2003 Nonsense mutations are usually assumed to affect protein function by generating truncated protein products. Nonetheless, it is now clear that these mutations affect not just protein synthesis but also messenger RNA stability.
Claudio R. Alonso
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A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]
BMC Genomics, 2015 Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population. The aim of our study was to find genomic associations, to investigate the mode of inheritance, to allow a DNA test for ...
Bart J. Ducro +12 more
openaire +9 more sources
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source