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.
Craig A Hodges +2 more
exaly +3 more sources
Ataluren treatment of patients with nonsense mutation dystrophinopathy [PDF]
Muscle and Nerve, 2014 ABSTRACTIntroduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. Methods: Randomized, double‐blind, placebo‐controlled study; males ≥5 years with nm‐dystrophinopathy ...
Craig Campbell +2 more
exaly +7 more sources
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
doaj +2 more sources
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
europepmc +5 more sources
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
doaj +2 more sources
A BRCA1 Nonsense Mutation Causes Exon Skipping [PDF]
American Journal of Human Genetics, 1998 The authors would like to thank the family members. We also thank C. Bonnardel, L. Boutrand, T. Conway, J. Lynch, S. Slominski, and P. Watson, for their expert assistance. This work was supported by program grants from le Comite Departemental de l'Ain de La Ligue contre le Cancer, the Council for Tobacco Research (grant 127DR@), the U.S.
Nadine PUGET +2 more
exaly +3 more sources
Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy [PDF]
PLoS ONE, 2013 Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein.
Kevin M. Flanigan +2 more
exaly +2 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
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 +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