Cargando…

Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination

Genetic variants that introduce premature termination codons (PTCs) have remained difficult to therapeutically target due to lack of protein product. Nonsense mediated mRNA decay (NMD) targets PTC-bearing transcripts to reduce the potentially damaging effects of truncated proteins. Readthrough compo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bowling, Alyssa, Eastman, Alice, Merlo, Christian, Lin, Gabrielle, West, Natalie, Patel, Shivani, Cutting, Garry, Sharma, Neeraj
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9504986/ https://www.ncbi.nlm.nih.gov/pubmed/36143233 http://dx.doi.org/10.3390/jpm12091448

Ejemplares similares

The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD)
por: Stockklausner, Clemens, et al.
Publicado: (2006)

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

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

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies
por: Joynt, Anya T., et al.
Publicado: (2020)

Environmental stresses suppress nonsense-mediated mRNA decay (NMD) and affect cells by stabilizing NMD-targeted gene expression
por: Usuki, Fusako, et al.
Publicado: (2019)

Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies
por: Durand, Sébastien, et al.
Publicado: (2007)

Inactivation of NMD increases viability of sup45 nonsense mutants in Saccharomyces cerevisiae
por: Chabelskaya, Svetlana, et al.
Publicado: (2007)

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)

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough
por: Abreu, Renata B. V., et al.
Publicado: (2022)

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)

NMD Classifier: A reliable and systematic classification tool for nonsense-mediated decay events
por: Hsu, Min-Kung, et al.
Publicado: (2017)

The Complex Relationship between HTLV-1 and Nonsense-Mediated mRNA Decay (NMD)
por: Prochasson, Léa, 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)

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

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)

Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations
por: Peixeiro, Isabel, et al.
Publicado: (2012)

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

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)

Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough
por: Lee, Rhianna E., et al.
Publicado: (2022)

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)

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

Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells
por: Joynt, Anya T., et al.
Publicado: (2023)

A Role for Nonsense-Mediated mRNA Decay in Plants: Pathogen Responses Are Induced in Arabidopsis thaliana NMD Mutants
por: Rayson, Samantha, et al.
Publicado: (2012)

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)

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)

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

A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124
por: Chen, Chia-Chi, et al.
Publicado: (2023)

SMG1, a nonsense‐mediated mRNA decay (NMD) regulator, as a candidate therapeutic target in multiple myeloma
por: Leeksma, Alexander C., et al.
Publicado: (2022)

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

UAG readthrough in mammalian cells: Effect of upstream and downstream stop codon contexts reveal different signals
por: Cassan, Michel, et al.
Publicado: (2001)

Spermatogenesis Studies Reveal a Distinct Nonsense-Mediated mRNA Decay (NMD) Mechanism for mRNAs with Long 3′UTRs
por: Mühlemann, Oliver
Publicado: (2016)

The nonsense-mediated mRNA decay (NMD) pathway differentially regulates COX17, COX19 and COX23 mRNAs
por: Murtha, Kaitlin, et al.
Publicado: (2018)

The σ(70) region 1.2 regulates promoter escape by unwinding DNA downstream of the transcription start site
por: Bochkareva, Aleksandra, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_ukk1l4mrs5ocm9jekesfai9g3n