Search results for " mutation"

showing 2 items of 1212 documents

Molecular Characterization of a Variant of Bacillus anthracis-Specific Phage AP50 with Improved Bacteriolytic Activity▿ †

2008

ABSTRACT The genome sequence of a Bacillus anthracis -specific clear plaque mutant phage, AP50c, contains 31 open reading frames spanning 14,398 bp, has two mutations compared to wild-type AP50t, and has a colinear genome architecture highly similar to that of gram-positive Tectiviridae phages. Spontaneous AP50c-resistant B. anthracis mutants exhibit a mucoid colony phenotype.

virusesMutantMolecular Sequence DataMutation MissenseGenetics and Molecular BiologyBacillus PhagesGenome ViralViral Plaque AssayApplied Microbiology and BiotechnologySyntenyBacteriophageBacteriolysisGene OrderPoint MutationBacillus (shape)Whole genome sequencingGeneticsEcologybiologyBase SequenceTectivirusVirionSequence Analysis DNAbiology.organism_classificationBacillus anthracisOpen reading frameBacillus anthracisDNA ViralTectiviridaeFood ScienceBiotechnologyTectiviridae
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PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.

2011

We investigated the therapeutic potential of the premature termination codon (PTC) readthrough-inducing drug PTC124 in treating the retinal phenotype of Usher syndrome, caused by a nonsense mutation in the USH1C gene. Applications in cell culture, organotypic retina cultures, and mice in vivo revealed significant readthrough and the recovery of protein function. In comparison with other readthrough drugs, namely the clinically approved readthrough-inducing aminoglycoside gentamicin, PTC124 exhibits significant better retinal biocompatibility. Its high readthrough efficiency in combination with excellent biocompatibility makes PTC124 a promising therapeutic agent for PTCs in USH1C, as well a…

virusesUsher syndromeGenetic enhancementNonsense mutationGenetic VectorsCell Cycle ProteinsRetina03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineIn vivootorhinolaryngologic diseasesGeneticsmedicineAnimalsHumansMolecular BiologyCells Cultured030304 developmental biologyAdaptor Proteins Signal TransducingGenetics0303 health sciencesOxadiazolesbusiness.industryfungiAminoglycosideTranslational readthroughmedicine.diseasePhenotype3. Good healthAtalurenMice Inbred C57BLCytoskeletal ProteinsLuminescent ProteinsElectroporationchemistryMicroscopy FluorescenceCodon NonsenseCancer researchMolecular MedicineGentamicinsbusinessUsher Syndromes030217 neurology & neurosurgeryHuman gene therapy
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