Results 71 to 80 of about 12,504 (200)

Finding sense in the context

eLife, 2020
Ribosomal profiling has shed new light on how ribosomes can ignore stop codons in messenger RNA.
Kim M Keeling, David M Bedwell
doaj   +1 more source

Readthrough-induced misincorporated amino acid ratios guide mutant-specific therapeutic approaches for two CFTR nonsense mutations

Frontiers in Pharmacology
Cystic fibrosis (CF) is a monogenic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Premature termination codons (PTCs) represent ∼9% of CF mutations that typically cause severe expression defects of the CFTR anion ...
A. Premchandar, Ruiji Ming, Abed A. Baiad, Dillon F. Da Fonte, Haijin Xu, Denis Faubert, G. Veit, G. Lukács   +7 more
semanticscholar   +1 more source

Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough

Journal of Clinical Investigation, 2022
The vast majority of people with cystic fibrosis (CF) are now eligible for CF transmembrane regulator (CFTR) modulator therapy. The remaining individuals with CF harbor premature termination codons (PTCs) or rare CFTR variants with limited treatment ...
Rhianna E. Lee, Catherine A Lewis, Lihua He, E. Bulik-Sullivan, Samuel C. Gallant, T. Mascenik, H. Dang, D. Cholon, M. Gentzsch, L. Morton, John T. Minges, Jonathan W. Theile, N. Castle, M. Knowles, A. Kimple, S. Randell   +15 more
semanticscholar   +1 more source

A Modular Mechanistic In Silico Model for In Vitro Transcription Process Yield and Product Quality Prediction

Biotechnology and Bioengineering, EarlyView.
ABSTRACT In vitro transcription (IVT) plays a critical role in the manufacture of mRNA vaccines and therapeutics. Optimizing mRNA yield and ensuring product quality, such as capping efficiency and integrity, are essential but mechanistically complex. This study presents a modular mechanistic model of the IVT process to advance scientific understanding ...
Keqi Wang, Keilung Choy, Eli Reiser, Jinxiang Pei, Hua Zheng, Aparajita Dasgupta, Fuqiang Cheng, Guogang Dong, Bhanu Chandra Mulukutla, Joshua Mannheimer, Carolyn Huang, Hooman Farsani, Wei Xie   +12 more
wiley   +1 more source

Readthrough activation of early adenovirus E1b gene transcription [PDF]

Journal of Virology, 1997
In cells productively infected with adenovirus type 5, transcription is not terminated between the E1a gene and the adjacent downstream E1b gene. Insertion of the mouse beta(maj)-globin transcription termination sequence (GGT) into the E1a coding region dramatically reduces early, but not late, E1b expression (E. Falck-Pedersen, J. Logan, T. Shenk, and
L F, Maxfield, D J, Spector
openaire   +2 more sources

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Multiple Localization by Functional Translational Readthrough

, 2018
In a compartmentalized cell, correct protein localization is crucial for function of virtually all cellular processes. From the cytoplasm as a starting point, proteins are imported into organelles by specific targeting signals. Many proteins, however, act in more than one cellular compartment.
Bersch, Kristina, Lobos Matthei, Ignacio, Thoms, Sven, del Río, Luis A., Schrader, Michael   +4 more
openaire   +3 more sources

Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations

Journal of molecular medicine
Rett syndrome (RTT) is a neurodevelopmental disorder resulting from genetic mutations in the methyl CpG binding protein 2 (MeCP2) gene. Specifically, around 35% of RTT patients harbor premature termination codons (PTCs) within the MeCP2 gene due to ...
Dennis Lebeda, Adrian Fierenz, Lina Werfel, Rina Rosin-Arbesfeld, Julia Hofhuis, Sven Thoms   +5 more
semanticscholar   +1 more source

Full‐length transcriptome profiling of true bug mitochondrial genomes reveals the unique transcriptional regulation during insect evolution

Insect Science, EarlyView.
The mitogenome was transcribed into complete primary polycistrons on both strands. The heteropteran mitochondrial transcription termination factor (HmTTF) functions as a bidirectional attenuator rather than a terminator, and co‐evolution of HmTTF and the binding sites was observed.
Shiwen Xu, Yuange Duan, Ling Ma, Qiaoqiao Liu, Fan Song, Wanzhi Cai, Hu Li   +6 more
wiley   +1 more source

mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs)

Nucleic Acids Research
Nonsense mutations account for >10% of human genetic disorders, including cystic fibrosis, Alagille syndrome, and Duchenne muscular dystrophy. A nonsense mutation results in the expression of a truncated protein, and therapeutic strategies aim to restore
Denis Susorov, Dimas Echeverria, Anastasia Khvorova, A. Korostelev   +3 more
semanticscholar   +1 more source