Готові списки джерел за темами / Ataluren

Добірка наукової літератури з теми "Ataluren"

Автор: Grafiati

Опубліковано: 14 березня 2023

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Статті в журналах з теми "Ataluren"

Michorowska, Sylwia. "Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner." Pharmaceuticals 14, no. 8 (August 9, 2021): 785. http://dx.doi.org/10.3390/ph14080785.

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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. However, the translation of transcripts containing premature stop codons resulting in full-length protein expression can be achieved using readthrough agents. Among them, only ataluren was approved in several countries to treat nonsense mutation Duchenne muscular dystrophy (DMD) patients. This review summarizes ataluren’s journey from its identification, via first in vitro activity experiments, to clinical trials in DMD, cystic fibrosis, and aniridia. Additionally, data on its pharmacokinetics and mechanism of action are presented. The range of diseases with underlying nonsense mutations is described for which ataluren therapy seems to be promising. What is more, experiments in which ataluren did not show its readthrough activity are also included, and reasons for their failures are discussed.

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Davies, S., N. Serradell, E. Rosa, and R. Castañer. "Ataluren." Drugs of the Future 33, no. 9 (2008): 733. http://dx.doi.org/10.1358/dof.2008.033.09.1252090.

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Mercuri, Eugenio, Francesco Muntoni, Andrés Nascimento Osorio, Már Tulinius, Filippo Buccella, Lauren P. Morgenroth, Heather Gordish-Dressman, et al. "Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study." Journal of Comparative Effectiveness Research 9, no. 5 (April 2020): 341–60. http://dx.doi.org/10.2217/cer-2019-0171.

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Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype–phenotype/–ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan–Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p ≤ 0.05). There were no DMD genotype–phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.

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Kaushik, Diksha, Jiyuan Ma, Guodong Gu, Seongwoo Hwang, Young-Choon Moon, and Ronald Kong. "LC–MS/MS quantification of ataluren and ataluren acyl glucuronide in human plasma/urine: application in clinical studies." Bioanalysis 12, no. 21 (November 2020): 1545–55. http://dx.doi.org/10.4155/bio-2020-0214.

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Background: This paper describes for the first-time analytical procedures established to resolve the challenges associated with simultaneous and direct quantification of ataluren and ataluren- O-1β-acyl glucuronide (AAG) by LC–MS/MS in human plasma and urine matrices. Methodology/results: The plasma quantification method was validated for calibration range of 12.5–12500 ng/ml for ataluren and 6.25–2500 ng/ml for AAG. The urine quantification method was validated for calibration range of 0.01–10 and 1–1000 μg/ml for ataluren and AAG, respectively. Plasma and urine samples were stabilized upon collection and through storage to prevent hydrolysis and acyl migration of AAG. Conclusion: Methods described in this paper enabled successful completion of ataluren clinical pharmacology studies for simultaneous pharmacokinetic assessment of ataluren and AAG.

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McDonald, CM, K. Bushby, M. Tulinius, R. Finkel, H. Topaloglu, JW Day, K. Flanigan, et al. "A.06 Ataluren: an overview of clinical trial results in nonsense mutation Duchenne Muscular Dystrophy (nmDMD)." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 43, S2 (June 2016): S8. http://dx.doi.org/10.1017/cjn.2016.58.

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Background: Ataluren is the first drug to treat the underlying cause of nmDMD. Methods: Phase 2 and 3 studies of ataluren in nmDMD were reviewed, with efficacy and safety/tolerability findings summarized. Results: Ataluren nmDMD trials include: a Phase 2a proof-of-concept study (N=38); a Phase 2b randomized controlled trial (RCT) (N=174); an ongoing US-based open-label safety extension study (N=108); an ongoing non-US-based open-label safety/efficacy extension study (N=94); and a Phase 3 RCT, ACT DMD (N=228), whose primary endpoint was change in six-minute walk distance (6MWD) over 48 weeks. The proof-of-concept study demonstrated increased dystrophin production in post-treatment muscle biopsies from ataluren-treated patients with nmDMD. The Phase 2b results demonstrated an ataluren treatment effect in 6MWD, timed function tests, and other measures of physical functioning, The Phase 3 ACT DMD results demonstrated an ataluren treatment effect in patients with nmDMD in both primary and secondary endpoints, particularly in those with a baseline 6MWD of 300-400m. Ataluren was consistently well-tolerated in all three trials, as well as in the ongoing extension studies. Trial findings will be presented in detail. Conclusions: The totality of the results demonstrates that ataluren enables nonsense mutation readthrough in the dystrophin mRNA, producing functional dystrophin and slowing disease progression.Supported by: PTC Therapeutics Inc.

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McDonald, Craig M., Francesco Muntoni, Vinay Penematsa, Joel Jiang, Allan Kristensen, Francesco Bibbiani, Elizabeth Goodwin, et al. "Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients." Journal of Comparative Effectiveness Research 11, no. 3 (February 2022): 139–55. http://dx.doi.org/10.2217/cer-2021-0196.

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Aim: We investigated the effect of ataluren plus standard of care (SoC) on age at loss of ambulation (LoA) and respiratory decline in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) versus patients with DMD on SoC alone. Patients & methods: Study 019 was a long-term Phase III study of ataluren safety in nmDMD patients with a history of ataluren exposure. Propensity score matching identified Study 019 and CINRG DNHS patients similar in disease progression predictors. Results & conclusion: Ataluren plus SoC was associated with a 2.2-year delay in age at LoA (p = 0.0006), and a 3.0-year delay in decline of predicted forced vital capacity to <60% in nonambulatory patients (p = 0.0004), versus SoC. Ataluren plus SoC delays disease progression and benefits ambulatory and nonambulatory patients with nmDMD. ClinicalTrials.gov registration: NCT01557400 .

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Beryozkin, Avigail, Ananya Samanta, Prakadeeswari Gopalakrishnan, Samer Khateb, Eyal Banin, Dror Sharon, and Kerstin Nagel-Wolfrum. "Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A." International Journal of Molecular Sciences 23, no. 7 (March 24, 2022): 3541. http://dx.doi.org/10.3390/ijms23073541.

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Ataluren and Gentamicin are translational readthrough drugs (TRIDs) that induce premature termination codon (PTC) readthrough, resulting in the production of full-length proteins that usually harbor a single missense substitution. FAM161A is a ciliary protein which is expressed in photoreceptors, and pathogenic variants in this gene cause retinitis pigmentosa (RP). Applying TRIDs on fibroblasts from RP patients due to PTC in the FAM161A (p.Arg523*) gene may uncover whether TRIDs can restore expression, localization and function of this protein. Fibroblasts from six patients and five age-matched controls were starved prior to treatment with ataluren or gentamicin, and later FAM161A expression, ciliogenesis and cilia length were analyzed. In contrast to control cells, fibroblasts of patients did not express the FAM161A protein, showed a lower percentage of ciliated cells and grew shorter cilia after starvation. Ataluren and Gentamicin treatment were able to restore FAM161A expression, localization and co-localization with α-tubulin. Ciliogenesis and cilia length were restored following Ataluren treatment almost up to a level which was observed in control cells. Gentamicin was less efficient in ciliogenesis compared to Ataluren. Our results provide a proof-of-concept that PTCs in FAM161A can be effectively suppressed by Ataluren or Gentamicin, resulting in a full-length functional protein.

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Roy, Bijoyita, Westley J. Friesen, Yuki Tomizawa, John D. Leszyk, Jin Zhuo, Briana Johnson, Jumana Dakka, et al. "Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression." Proceedings of the National Academy of Sciences 113, no. 44 (October 4, 2016): 12508–13. http://dx.doi.org/10.1073/pnas.1605336113.

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A premature termination codon (PTC) in the ORF of an mRNA generally leads to production of a truncated polypeptide, accelerated degradation of the mRNA, and depression of overall mRNA expression. Accordingly, nonsense mutations cause some of the most severe forms of inherited disorders. The small-molecule drug ataluren promotes therapeutic nonsense suppression and has been thought to mediate the insertion of near-cognate tRNAs at PTCs. However, direct evidence for this activity has been lacking. Here, we expressed multiple nonsense mutation reporters in human cells and yeast and identified the amino acids inserted when a PTC occupies the ribosomal A site in control, ataluren-treated, and aminoglycoside-treated cells. We find that ataluren’s likely target is the ribosome and that it produces full-length protein by promoting insertion of near-cognate tRNAs at the site of the nonsense codon without apparent effects on transcription, mRNA processing, mRNA stability, or protein stability. The resulting readthrough proteins retain function and contain amino acid replacements similar to those derived from endogenous readthrough, namely Gln, Lys, or Tyr at UAA or UAG PTCs and Trp, Arg, or Cys at UGA PTCs. These insertion biases arise primarily from mRNA:tRNA mispairing at codon positions 1 and 3 and reflect, in part, the preferred use of certain nonstandard base pairs, e.g., U-G. Ataluren’s retention of similar specificity of near-cognate tRNA insertion as occurs endogenously has important implications for its general use in therapeutic nonsense suppression.

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Djayet, Celia, Dominique Bremond-Gignac, Justine Touchard, Philippe-Henri Secretan, Fabrice Vidal, Matthieu P. Robert, Alejandra Daruich, Salvatore Cisternino, and Joël Schlatter. "Formulation and Stability of Ataluren Eye Drop Oily Solution for Aniridia." Pharmaceutics 13, no. 1 (December 22, 2020): 7. http://dx.doi.org/10.3390/pharmaceutics13010007.

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Congenital aniridia is a rare and severe panocular disease characterized by a complete or partial iris defect clinically detectable at birth. The most common form of aniridia occurring in around 90% of cases is caused by PAX6 haploinsufficiency. The phenotype includes ptosis, nystagmus, corneal limbal insufficiency, glaucoma, cataract, optic nerve, and foveal hypoplasia. Ataluren eye drops aim to restore ocular surface PAX6 haploinsufficiency in aniridia-related keratopathy (ARK). However, there are currently no available forms of the ophthalmic solution. The objective of this study was to assess the physicochemical and microbiological stability of ataluren 1% eye drop in preservative-free low-density polyethylene (LDPE) bottle with an innovative insert that maintains sterility after opening. Because ataluren is a strongly lipophilic compound, the formulation is complex and involves a strategy based on co-solvents in an aqueous phase or an oily formulation capable of totally dissolving the active ingredient. The visual aspect, ataluren quantification by a stability-indicating chromatographic method, and microbiological sterility were analyzed. The oily formulation in castor oil and DMSO (10%) better protects ataluren hydrolysis and oxidative degradation and permits its complete solubilization. Throughout the 60 days period, the oily solution in the LDPE bottle remained clear without any precipitation or color modification, and no drug loss and no microbial development were detected. The demonstrated physical and microbiological stability of ataluren 1% eye drop formulation at 22–25 °C might facilitate clinical research in aniridia.

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Ryan, Nicola J. "Ataluren: First Global Approval." Drugs 74, no. 14 (September 2014): 1709–14. http://dx.doi.org/10.1007/s40265-014-0287-4.

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Дисертації з теми "Ataluren"

Mero, Serena. "Study of the molecular characteristics of spastic paraplegia type 11: its impact on oxidative metabolism and response to drugs treatments." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1211494.

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The Hereditary Spastic Paraplegias (HSPs) are inherited neurological disorders characterized by progressive spasticity and pyramidal weakness, predominantly in the lower limbs. Collectively, HSPs are rare conditions affecting any age, and cause important health problems due to gradual functional deterioration, sometimes leading to premature death. Over 80 genes are currently associated with HSPs and the number is still increasing, as well as the clinical features associated with the disease. We focused our study on SPG11-HSP, the most frequent form of autosomal recessive HSP. This is a neurodegenerative disease with no cure requiring new insights on the mechanisms to find new opportunity to therapy. We tested SPG11 patients’ biological material and engineered SPG11 knockout neuroblastoma cell line. SPG11 encodes SPATACSIN, a large protein without a clear specific function associated to the disease. We demonstrated a loss-of-function mechanism with an involvement of mitochondria with consequences on oxidative metabolism. Then, with a multi-omics approach on SPG11 patients’ fibroblasts, we extended the knowledge of the putative pathway involved in SPG11 disease thanks to proteomic analysis and we defined putative disease biomarkers with lipidomic analysis. Lastly, the pharmacological approach with the two FDA approved drugs, ataluren and miglustat highlighted that the former did not appear to impact on SPG11 cells whereas the latter evidenced a slight modulatory effect on the new pathways identified through proteomic in patients’ fibroblasts. Altogether, studies performed during this doctoral work further underlined the usefulness of in vivo and in vitro studies on patients and their biological material as a tool for future investigations to dissect pathogenesis and to hypothesize effective therapies. Nonetheless further studies remain imperative to challenge SPG11-HSP disease progression with the ambition to modify tomorrow clinical practice in the large number of young children with spasticity. This increases the need of a more precise diagnosis at the pre-symptomatic stage, and potentiality to undergo safe and efficacious pharmacological treatments.

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Тези доповідей конференцій з теми "Ataluren"

Sermet-Gaudelus, Isabelle, Harm Tiddens, Anne Malfroot, Harry Heijerman, Eitan Kerem, Lena Hjelte, Yiping Sun, Joseph McIntosh, Jane Davies, and Christiane de Boeck. "Ataluren in nonsense mutation cystic fibrosis patients not receiving chronic inhaled tobramycin: Evaluation of exacerbations and lung function." In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa4869.

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Lv, Q., L. Gallardo Estrella, E. Andrinopoulou, P. Ciet, J. Charbonnier, M. P.C. Kemner - Van De Corput, D. Caudri, M. De Bruijne, and H. A.W.M. Tiddens. "Detection of progressive airway disease on chest computed tomography in the Ataluren CF cohort using an airway-artery algorithm." In ERS International Congress 2022 abstracts. European Respiratory Society, 2022. http://dx.doi.org/10.1183/13993003.congress-2022.892.

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Werner, Christian, Abdallah Delage, Filippo Buccella, Isabelle Desguerre, Francesco Muntoni, Andrés Nascimento, Már Tulinius, et al. "Effect of Ataluren on Age at Loss of Ambulation in Nonsense Mutation Duchenne Muscular Dystrophy: Observational Data from the STRIDE Registry." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698255.

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Werner, Christian, Cuixia Tian, Robert Kong, Edward O’Mara, Traci Schilling, Panayiota Trifillis, Joseph McIntosh, and J. Ben Renfroe. "Ataluren in Patients Aged  2 to < 5 Years with Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD): 28-week Results from a Phase 2 Study." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698256.

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