Variable readthrough responsiveness of nonsense mutations in hemophilia A [PDF]
Haematologica, 2020 Readthrough therapy relies on the use of small molecules that enable premature termination codons in mRNA open reading frames to be misinterpreted by the translation machinery, thus allowing the generation of full-length, potentially functional proteins ...
Lluis Martorell +4 more
doaj +5 more sources
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 +3 more sources
Therapeutic targeting of TP53 nonsense mutations in cancer
Upsala Journal of Medical SciencesMutations in the TP53 tumor suppressor gene occur with high prevalence in a wide range of human tumors. A significant fraction of these mutations (around 10%) are nonsense mutations, creating a premature termination codon (PTC) that leads to the ...
Charlotte Strandgren, Klas G. Wiman
doaj +2 more sources
Análisis genético y molecular del síndrome de Maroteaux-Lamy [PDF]
, 2008 [spa] Esta tesis es una contribución al conocimiento del síndrome de Maroteux-Lamy en el terreno de la genética molecular. El síndrome de Maroteaux-Lamy o mucopolisacaridosis de tipo VI (MPS VI) es una grave enfermedad hereditaria muy poco frecuente en ...
Garrido Fernández, Elena
core +6 more sources
Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner
Pharmaceuticals, 2021 Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The expression of genes containing nonsense mutations potentially leads to the production of truncated proteins with residual or virtually no function.
Sylwia Michorowska
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
Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. [PDF]
PLoS ONE, 2011 BACKGROUND: Nonsense mutations in the X-linked methyl CpG-binding protein 2 (MECP2) comprise a significant proportion of causative MECP2 mutations in Rett syndrome (RTT).
Manuela Vecsler +8 more
doaj +1 more source
A molecular analysis of mutations at the complex dumpy locus in Drosophila melanogaster. [PDF]
PLoS ONE, 2010 The Drosophila dumpy gene consists of seventy eight coding exons and encodes a huge extracellular matrix protein containing large numbers of epidermal growth factor-like (EGF) modules and a novel module called dumpy (DPY).
Amber Carmon +4 more
doaj +1 more source
Recoding of Nonsense Mutation as a Pharmacological Strategy
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.
Gazmend Temaj +5 more
openaire +4 more sources
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita [PDF]
, 2003 Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P +15 more
core +1 more source