Cargando…

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough

BRCA1 is a major tumor suppressor that functions in the accurate repair of DNA double-strand breaks via homologous recombination (HR). Nonsense mutations in BRCA1 lead to inactive truncated protein products and are associated with high risk of breast and ovarian cancer. These mutations generate prem...

Descripción completa

Detalles Bibliográficos
Autores principales:	Abreu, Renata B. V., Gomes, Thiago T., Nepomuceno, Thales C., Li, Xueli, Fuchshuber-Moraes, Mateus, De Gregoriis, Giuliana, Suarez-Kurtz, Guilherme, Monteiro, Alvaro N. A., Carvalho, Marcelo A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pharmacology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9273842/ https://www.ncbi.nlm.nih.gov/pubmed/35837282 http://dx.doi.org/10.3389/fphar.2022.935995

Ejemplares similares

Balancing Nonsense Mutation Readthrough and Toxicity of Designer Aminoglycosides for Treatment of Genetic Diseases
por: Guchhait, Sandip, et al.
Publicado: (2023)

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay
por: Nepomuceno, Thales C., et al.
Publicado: (2022)

The Role of PALB2 in the DNA Damage Response and Cancer Predisposition
por: Nepomuceno, Thales C., et al.
Publicado: (2017)

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
por: Brendel, Cornelia, et al.
Publicado: (2010)

Erratum to: Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
por: Brendel, Cornelia, et al.
Publicado: (2013)

Nonaminoglycoside compounds induce readthrough of nonsense mutations
por: Du, Liutao, et al.
Publicado: (2009)

Network of Interactions between ZIKA Virus Non-Structural Proteins and Human Host Proteins
por: Golubeva, Volha A., et al.
Publicado: (2020)

Novel compounds that synergize with aminoglycoside G418 or eRF3 degraders for translational readthrough of nonsense mutant TP53 and PTEN
por: Heldin, Angelos, et al.
Publicado: (2023)

Variable readthrough responsiveness of nonsense mutations in hemophilia A
por: Martorell, Lluis, et al.
Publicado: (2020)

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases
por: Gómez-Grau, Marta, et al.
Publicado: (2015)

Novel small molecules potentiate premature termination codon readthrough by aminoglycosides
por: Baradaran-Heravi, Alireza, et al.
Publicado: (2016)

Strategies against Nonsense: Oxadiazoles as Translational Readthrough-Inducing Drugs (TRIDs)
por: Campofelice, Ambra, et al.
Publicado: (2019)

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches
por: Lombardi, Silvia, et al.
Publicado: (2020)

Synergy between Readthrough and Nonsense Mediated Decay Inhibition in a Murine Model of Cystic Fibrosis Nonsense Mutations
por: McHugh, Daniel R., et al.
Publicado: (2020)

Screening Readthrough Compounds to Suppress Nonsense Mutations: Possible Application to β-Thalassemia
por: Borgatti, Monica, et al.
Publicado: (2020)

Dbp5/DDX19 between Translational Readthrough and Nonsense Mediated Decay
por: Beißel, Christian, et al.
Publicado: (2020)

Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene
por: Palomar-Siles, Mireia, et al.
Publicado: (2023)

Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides
por: Wangen, Jamie R, et al.
Publicado: (2020)

Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation
por: Golubeva, Volha A., et al.
Publicado: (2019)

A system for coordinated analysis of translational readthrough and nonsense-mediated mRNA decay
por: Baker, Stacey L., et al.
Publicado: (2017)

Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation
por: Seo, Kyowon, et al.
Publicado: (2021)

2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases
por: Bidou, Laure, et al.
Publicado: (2022)

Translational readthrough of nonsense mutant TP53 by mRNA incorporation of 5-Fluorouridine
por: Palomar-Siles, Mireia, et al.
Publicado: (2022)

Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome
por: Wong, Keit Men, et al.
Publicado: (2023)

Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia
por: Bukowy-Bieryllo, Zuzanna, et al.
Publicado: (2016)

Intergenic splicing-stimulated transcriptional readthrough is suppressed by nonsense-mediated mRNA decay in Arabidopsis
por: Kurihara, Yukio, et al.
Publicado: (2022)

The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418
por: Ferguson, Michael W., et al.
Publicado: (2019)

Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia
por: Dabrowski, Maciej, et al.
Publicado: (2021)

A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion
por: Sharma, Jyoti, et al.
Publicado: (2021)

Ataluren and aminoglycosides stimulate read-through of nonsense codons by orthogonal mechanisms
por: Ng, Martin Y., et al.
Publicado: (2021)

Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside
por: Höpfner, Friederike, et al.
Publicado: (2022)

Statistical Analysis of Readthrough Levels for Nonsense Mutations in Mammalian Cells Reveals a Major Determinant of Response to Gentamicin
por: Floquet, Célia, et al.
Publicado: (2012)

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia
por: Liu, Xiaoliang, et al.
Publicado: (2020)

Probing Structure-Function Relationships in Missense Variants in the Carboxy-Terminal Region of BRCA1
por: Carvalho, Renato S., et al.
Publicado: (2014)

Nonselective TRPC channel inhibition and suppression of aminoglycoside-induced premature termination codon readthrough by the small molecule AC1903
por: Baradaran-Heravi, Alireza, et al.
Publicado: (2022)

Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough
por: Hosseini-Farahabadi, Sara, et al.
Publicado: (2021)

Heterologous Stop Codon Readthrough of Metazoan Readthrough Candidates in Yeast
por: Chan, Clara S., et al.
Publicado: (2013)

Expression of the eRF1 translation termination factor is controlled by an autoregulatory circuit involving readthrough and nonsense-mediated decay in plants
por: Nyikó, Tünde, et al.
Publicado: (2017)

Readthrough of stop codons under limiting ABCE1 concentration involves frameshifting and inhibits nonsense-mediated mRNA decay
por: Annibaldis, Giuditta, et al.
Publicado: (2020)

NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough
por: Omachi, Kohei, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_cp97tjkep8hveo9g4o3t8b751r