Results 61 to 70 of about 9,270 (176)

Translational readthrough inducing drugs for the treatment of inherited retinal dystrophies [PDF]

Expert Review of Ophthalmology, 2020
Inherited retinal disorders (IRDs) are the most common cause of certifiable blindness in working-age adults in the UK.
Way, CM, Lima Cunha, D, Moosajee, M
openaire   +2 more sources

In vitroprediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study [PDF]

, 2007
Background Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which acts as a chloride channel activated by cyclic AMP (cAMP).
Isabelle Sermet-Gaudelus, Michel Renouil, Anne Fajac, Laure Bidou, Bastien Parbaille, Sébastien Pierrot, Nolwen Davy, Elise Bismuth, Philippe Reinert, Gérard Lenoir, Jean François Lesure, Jean Pierre Rousset, Aleksander Edelman   +12 more
core   +2 more sources

The candidate antimalarial drug MMV665909 causes oxygen-dependent mRNA mistranslation and synergises with quinoline-derived antimalarials [PDF]

, 2017
To cope with growing resistance to current antimalarials, new drugs with novel modes of action are urgently needed. Molecules targeting protein synthesis appear to be promising candidates.
Ahyong, Alhebshi, Alonso, Ausubel, Avery, Baragana, Barthelme, Becker, Becker, Beznoskova, Bilsland, Carter, Cervantes, Choi, Cindy Vallières, Cokol, Dever, Duina, Eurwilaichitr, Fan-Minogue, Farabaugh, Flannery, Foucquier, Ghorbal, Gietz, Goodman, Hain, Holland, Holland, Hsieh, Imlay, Islahudin, Islahudin, Jackson, Jenkins, Keeling, Kessl, Kessl, Khoshnevis, Khozoie, Kraft, Laleve, Lehane, Li, Loenarz, Moore, Moreno-Martinez, Nurenberg, Petersen, Pulcini, Py, Radfar, Salas-Marco, Simon V. Avery, Slavic, Song, Sorensen, Spangenberg, Tafazoli, Tarlov, Vaidya, Vallieres, Van Voorhis, WHO, Wu, Zhang   +65 more
core   +3 more sources

En Route to Targeted Ribosome Editing to Replenish Skin Anchor Protein LAMB3 in Junctional Epidermolysis Bullosa

JID Innovations
Severe junctional epidermolysis bullosa is a rare genetic, postpartum lethal skin disease, predominantly caused by nonsense/premature termination codon (PTC) sequence variants in LAMB3 gene.
Bjoern Wimmer, Andreas Friedrich, Katharina Poeltner, Genevieve Edobor, Claudia Mosshammer, Gazmend Temaj, Adriana Rathner, Thomas Karl, Jan Krauss, Joerg von Hagen, Christopher Gerner, Michael Breitenbach, Helmut Hintner, Johann W. Bauer, Hannelore Breitenbach-Koller   +14 more
doaj   +1 more source

Evaluation of gliovascular functions of AQP4 readthrough isoforms

Frontiers in Cellular Neuroscience, 2023
Aquaporin-4 (AQP4) is a water channel protein that links the astrocytic endfeet to the blood-brain barrier (BBB) and regulates water and potassium homeostasis in the brain, as well as the glymphatic clearance of waste products that would otherwise ...
Shayna M. Mueller, Shayna M. Mueller, Kelli McFarland White, Kelli McFarland White, Stuart B. Fass, Stuart B. Fass, Siyu Chen, Siyu Chen, Siyu Chen, Zhan Shi, Xia Ge, Xia Ge, John A. Engelbach, John A. Engelbach, Seana H. Gaines, Annie R. Bice, Michael J. Vasek, Michael J. Vasek, Joel R. Garbow, Joel R. Garbow, Joseph P. Culver, Joseph P. Culver, Joseph P. Culver, Joseph P. Culver, Joseph P. Culver, Zila Martinez-Lozada, Martine Cohen-Salmon, Joseph D. Dougherty, Joseph D. Dougherty, Joseph D. Dougherty, Darshan Sapkota, Darshan Sapkota   +31 more
doaj   +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

A reporter system for translational readthrough of stop codons in human cells [PDF]

FEBS Open Bio, 2012
Agents to induce readthrough of premature termination codons (PTCs) are useful research tools and potential therapeutics. Reporters used to detect PTC readthrough are gene‐specific and thus are not suited to for general assessment of readthrough activity or in cases where PTC‐inactivated genes are unknown.
Halvey, Patrick J., Liebler, Daniel C., Slebos, Robbert J.C.   +2 more
openaire   +2 more sources

Cell-wall synthesis and ribosome maturation are co-regulated by an RNA switch in Mycobacterium tuberculosis [PDF]

, 2018
The success of Mycobacterium tuberculosis relies on the ability to switch between active growth and non-replicating persistence, associated with latent TB infection.
Alexandra Moores, Arnvig, Arnvig, Arnvig, Barquist, Breaker, Breaker, Chao, Chatterjee, Colameco, Cole, Connolly, Cortes, Czyz, Dar, Dejesus, Dersch, Eoh, Grundy, Gupta, Irene Nobeli, Kana, Kavita, Kingsford, Kristine B Arnvig, Landick, McCown, Moores, Nawrocki, Nelson, Ravagnani, Richards, Rosser, Serganov, Sharma, Sherwood, Shine, Smollett, Snapper, Stefan Schwenk, Steinert, Tan, Timothy D McHugh, Tufariello, Tufariello, Turapov, Wagner, Wang, Will, Zakham, Zuker   +50 more
core   +3 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

Programmed Deviations of Ribosomes From Standard Decoding in Archaea

Frontiers in Microbiology, 2021
Genetic code decoding, initially considered to be universal and immutable, is now known to be flexible. In fact, in specific genes, ribosomes deviate from the standard translational rules in a programmed way, a phenomenon globally termed recoding ...
Federica De Lise, Andrea Strazzulli, Andrea Strazzulli, Roberta Iacono, Roberta Iacono, Nicola Curci, Nicola Curci, Mauro Di Fenza, Luisa Maurelli, Marco Moracci, Marco Moracci, Marco Moracci, Beatrice Cobucci-Ponzano   +12 more
doaj   +1 more source