gentamicin and ptc 124

gentamicin has been researched along with ptc 124 in 21 studies

Research

Studies (21)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (4.76)29.6817
2010's18 (85.71)24.3611
2020's2 (9.52)2.80

Authors

AuthorsStudies
Matsuo, M; Takeshima, Y1
Goldmann, T; Nagel-Wolfrum, K; Overlack, N; Wolfrum, U1
Bennett, MJ; Chen, J; Meyers, GD; Narayan, SB; Tan, L1
Braverman, NE; Di Pietro, E; Dranchak, PK; Hacia, JG; Oesch, N; Snowden, A; Steinberg, SJ1
Aartsma-Rus, A; Clemens, PR; Davies, KE; Dickson, G; Pichavant, C; Takeda, S; Tremblay, JP; Wilton, SD; Wolff, JA; Wooddell, CI; Xiao, X1
Kerem, B; Linde, L1
Bertoni, C; Jung, ME; Kayali, R; Khitrov, G; Ku, JM; Prikhodko, O1
Auricchio, A; Bartolomeo, R; Polishchuk, EV; Polishchuk, RS; Volpi, N1
Bennett, MJ; Buck, NE; Hamilton, NJ; Peters, HL; Wood, LR1
Christodoulou, J; Ho, G; Reichardt, J1
Gartner, U; McElroy, SP; McLean, WH; Nomura, T; Torrie, LS; Warbrick, E; Wood, G1
DiGiovanna, JJ; Gatti, RA; Khan, SG; Kraemer, KH; Kuschal, C1
Marazova, K; Sahel, JA1
Gregory-Evans, CY; Gregory-Evans, K; Metcalfe, AL; Wang, X; Wasan, KM; Zhao, J1
Chau, T; Cheng, CJ; Fang, YW; Hsu, HM; Lin, SH; Nakamura, M; Seki, G; Yamada, H; Yamazaki, O; Yang, SS1
Arias, Á; Coll, MJ; Ferrer-Cortés, X; Garcia-Villoria, J; Gort, L; Matalonga, L; Ribes, A; Tort, F1
Beekman, JM; de Winter-de Groot, KM; Dekkers, JF; Janssens, HM; Kruisselbrink, E; van der Ent, CK; Vijftigschild, LA; Vonk, AM; Zomer-van Ommen, DD1
Bellin, M; Bezzina, CR; Casini, S; Kosmidis, G; Mummery, CL; van de Pas, S; Veerman, CC; Verkerk, AO; Wilde, AA1
Carr, AF; Cheetham, ME; Chen, LL; Coffey, PJ; da Cruz, L; J K Smart, M; Moore, AT; Muthiah, MN; Nommiste, B; Powner, MB; R Lane, A; Ramsden, CM; Webster, AR1
Gao, H; Liu, X; Qiu, C; Zhang, B; Zhang, Y1
Almes, M; Amzal, R; Bidou, L; Collado-Hilly, M; Davit-Spraul, A; Gonzales, E; Grosse, B; Jacquemin, E; Lapalus, M; Mareux, E; Namy, O; Thébaut, A1

Reviews

2 review(s) available for gentamicin and ptc 124

ArticleYear
[Mutation-specific treatments for Duchenne muscular dystrophy].
    Brain and nerve = Shinkei kenkyu no shinpo, 2009, Volume: 61, Issue:8

    Topics: Animals; Clinical Trials as Topic; Codon, Nonsense; Dystrophin; Exons; Frameshift Mutation; Genetic Therapy; Gentamicins; Humans; Molecular Diagnostic Techniques; Muscular Dystrophy, Duchenne; Oligonucleotides, Antisense; Oxadiazoles; Reading Frames; RNA, Messenger

2009
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2011, Volume: 19, Issue:5

    Topics: Dystrophin; Genetic Therapy; Gentamicins; Humans; Male; Muscle Fibers, Skeletal; Muscular Dystrophy, Duchenne; Oxadiazoles

2011

Other Studies

19 other study(ies) available for gentamicin and ptc 124

ArticleYear
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.
    Human gene therapy, 2011, Volume: 22, Issue:5

    Topics: Adaptor Proteins, Signal Transducing; Animals; Cell Cycle Proteins; Cells, Cultured; Codon, Nonsense; Cytoskeletal Proteins; Electroporation; Genetic Vectors; Gentamicins; Humans; Luminescent Proteins; Mice; Mice, Inbred C57BL; Microscopy, Fluorescence; Oxadiazoles; Red Fluorescent Protein; Retina; Usher Syndromes

2011
PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2

    Topics: Carnitine O-Palmitoyltransferase; Child, Preschool; Codon; Codon, Nonsense; Fatty Acids; Female; Fibroblasts; Gentamicins; Homozygote; Humans; Hyperammonemia; Hypoglycemia; Ketones; Liver Diseases; Mutation; Oxadiazoles; Oxygen; Phenotype; Skin

2011
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
    Journal of cellular biochemistry, 2011, Volume: 112, Issue:5

    Topics: Alleles; Animals; CHO Cells; Chondrodysplasia Punctata, Rhizomelic; Codon, Nonsense; Cricetinae; Cricetulus; Female; Fibroblasts; Gentamicins; Humans; Lipid Metabolism; Membrane Proteins; Oxadiazoles; Peroxisomal Biogenesis Factor 2; Peroxisomal Disorders; Peroxisomal Targeting Signal 2 Receptor; Plasmalogens; Receptors, Cytoplasmic and Nuclear

2011
Nonsense-mediated mRNA decay and cystic fibrosis.
    Methods in molecular biology (Clifton, N.J.), 2011, Volume: 741

    Topics: Alleles; Animals; Blotting, Western; Cell Line, Tumor; Chlorides; Codon, Nonsense; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Genetic Techniques; Gentamicins; Humans; Nasal Mucosa; Oxadiazoles; Plasmids; RNA Helicases; RNA-Binding Proteins; RNA, Messenger; Trans-Activators; Transcription Factors; Transfection

2011
Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy.
    Human molecular genetics, 2012, Sep-15, Volume: 21, Issue:18

    Topics: Animals; Codon, Nonsense; Disease Models, Animal; Dose-Response Relationship, Drug; Drug Evaluation, Preclinical; Dystrophin; Furans; Gentamicins; Injections, Intramuscular; Injections, Intraperitoneal; Male; Mice; Mice, Inbred C57BL; Mice, Inbred mdx; Muscle Fibers, Skeletal; Muscle Strength; Muscle, Skeletal; Muscular Dystrophy, Duchenne; Oxadiazoles; Phenols; Protein Synthesis Inhibitors; Reading Frames; Schiff Bases; Thiazolidines; Transcription, Genetic

2012
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.
    Journal of inherited metabolic disease, 2013, Volume: 36, Issue:2

    Topics: Cell Line; Codon, Nonsense; Codon, Terminator; Fibroblasts; Gentamicins; Humans; Mucopolysaccharidosis VI; N-Acetylgalactosamine-4-Sulfatase; Oxadiazoles

2013
Treatment of a methylmalonyl-CoA mutase stopcodon mutation.
    Biochemical and biophysical research communications, 2012, Nov-02, Volume: 427, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cell Line; Codon, Nonsense; Codon, Terminator; Disease Models, Animal; Fibroblasts; Gentamicins; Humans; Methylmalonyl-CoA Mutase; Mice; Mice, Transgenic; Oxadiazoles

2012
In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.
    Journal of inherited metabolic disease, 2013, Volume: 36, Issue:6

    Topics: Aminoglycosides; Animals; Chlorocebus aethiops; Codon, Nonsense; COS Cells; Drug Evaluation, Preclinical; Genetic Therapy; Gentamicins; HEK293 Cells; Humans; Oxadiazoles; Phenylalanine Hydroxylase; Phenylketonurias

2013
A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays.
    PLoS biology, 2013, Volume: 11, Issue:6

    Topics: Animals; beta-Galactosidase; Biological Assay; Cell Line; Codon, Nonsense; Collagen Type VII; Genes, Reporter; Gentamicins; Humans; Luciferases, Firefly; Oxadiazoles; Transfection

2013
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
    Proceedings of the National Academy of Sciences of the United States of America, 2013, Nov-26, Volume: 110, Issue:48

    Topics: Codon, Nonsense; DNA Primers; DNA Repair; Enzyme-Linked Immunosorbent Assay; Fibroblasts; Fluorescent Antibody Technique; Gentamicins; Humans; Immunoblotting; Luciferases; Oxadiazoles; Real-Time Polymerase Chain Reaction; RNA Stability; Skin Neoplasms; Xeroderma Pigmentosum

2013
Toward postnatal reversal of ocular congenital malformations.
    The Journal of clinical investigation, 2014, Volume: 124, Issue:1

    Topics: Animals; Aniridia; Eye Proteins; Gentamicins; Homeodomain Proteins; Oxadiazoles; Paired Box Transcription Factors; PAX6 Transcription Factor; Repressor Proteins

2014
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects.
    The Journal of clinical investigation, 2014, Volume: 124, Issue:1

    Topics: Animals; Aniridia; Chemistry, Pharmaceutical; Codon, Nonsense; Cornea; Eye Proteins; Gene Dosage; Gentamicins; Homeodomain Proteins; Mice; Mice, Inbred C57BL; Mice, Transgenic; Oxadiazoles; Paired Box Transcription Factors; PAX6 Transcription Factor; Repressor Proteins; Retina; Visual Acuity

2014
Therapeutic effect of prenatal alkalization and PTC124 in Na(+)/HCO3(-) cotransporter 1 p.W516* knock-in mice.
    Gene therapy, 2015, Volume: 22, Issue:5

    Topics: Acidosis, Renal Tubular; Alkalies; Animals; Genetic Therapy; Gentamicins; Mice; Oxadiazoles; RNA, Messenger; Sodium-Bicarbonate Symporters

2015
Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.
    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2015, Volume: 12, Issue:4

    Topics: Acetylglucosaminidase; Cell Survival; Cells, Cultured; Codon, Nonsense; Female; Fibroblasts; Gentamicins; Glycoproteins; Glycosaminoglycans; Humans; Lysosomal Storage Diseases; Lysosomes; Male; Mutation; Oxadiazoles; Protein Synthesis Inhibitors; RNA, Messenger; Sphingomyelin Phosphodiesterase

2015
Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids.
    Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2016, Volume: 15, Issue:2

    Topics: Cells, Cultured; Coccidiostats; Codon, Nonsense; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Gentamicins; Humans; Organoids; Oxadiazoles; RNA

2016
Readthrough-Promoting Drugs Gentamicin and PTC124 Fail to Rescue Nav1.5 Function of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Carrying Nonsense Mutations in the Sodium Channel Gene SCN5A.
    Circulation. Arrhythmia and electrophysiology, 2016, Volume: 9, Issue:11

    Topics: Action Potentials; Adult; Brugada Syndrome; Cardiac Conduction System Disease; Cells, Cultured; Codon, Nonsense; Electrophysiologic Techniques, Cardiac; Gentamicins; Humans; Induced Pluripotent Stem Cells; Male; Middle Aged; Myocytes, Cardiac; NAV1.5 Voltage-Gated Sodium Channel; Oxadiazoles; Phenotype

2016
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs.
    Scientific reports, 2017, 03-03, Volume: 7, Issue:1

    Topics: Adult; c-Mer Tyrosine Kinase; Gentamicins; Humans; Induced Pluripotent Stem Cells; Male; Oxadiazoles; Peptide Chain Elongation, Translational; Phagocytosis; Photoreceptor Cells; Retinal Pigment Epithelium; Retinitis Pigmentosa

2017
Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.
    Molecular genetics & genomic medicine, 2020, Volume: 8, Issue:5

    Topics: Adult; Aniridia; Cells, Cultured; Child; Female; Gentamicins; Haploinsufficiency; Heterozygote; Humans; INDEL Mutation; Male; Middle Aged; Nonsense Mediated mRNA Decay; Oxadiazoles; PAX6 Transcription Factor; Pedigree

2020
Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study.
    Hepatology (Baltimore, Md.), 2021, Volume: 73, Issue:4

    Topics: Animals; ATP Binding Cassette Transporter, Subfamily B, Member 11; Cholestasis, Intrahepatic; Codon, Nonsense; Cohort Studies; Dogs; Gentamicins; HEK293 Cells; Hep G2 Cells; Humans; Madin Darby Canine Kidney Cells; Mice; NIH 3T3 Cells; Oxadiazoles; Phenylbutyrates; Signal Transduction; Transfection; Ursodeoxycholic Acid

2021