Results 1 to 10 of about 12,504 (200)

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   +6 more sources

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development

Biomolecules, 2023
Around 11% of all known gene lesions causing human genetic diseases are nonsense mutations that introduce a premature stop codon (PTC) into the protein-coding gene sequence.
Shan Li, Juan Li, Wenjing Shi, Ziyan Nie, Shasha Zhang, Fengdie Ma, Jun Hu, Jianjun Chen, Peiqiang Li, Xiaodong Xie   +9 more
doaj   +4 more sources

Readthrough compounds for nonsense mutations: bridging the translational gap

Trends in Molecular Medicine, 2023
Approximately 10% of all pathological mutations are nonsense mutations that are responsible for several severe genetic diseases for which no treatment regimens are currently available.
Cornelis K Van Der Ent
exaly   +2 more sources

NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough

iScience, 2022
Summary: Alport syndrome, a disease of kidney, ear, and eye, is caused by pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes encoding collagen α3α4α5(IV) of basement membranes.
Kohei Omachi, Hirofumi Kai, Michel Roberge, Jeffrey H. Miner   +3 more
doaj   +2 more sources

Extended stop codon context predicts nonsense codon readthrough efficiency in human cells

Nature Communications
Protein synthesis terminates when a stop codon enters the ribosome’s A-site. Although termination is efficient, stop codon readthrough can occur when a near-cognate tRNA outcompetes release factors during decoding.
Kotchaphorn Mangkalaphiban, Lianwu Fu, Ming Du, Kari Thrasher, Kim M. Keeling, David M. Bedwell, Allan Jacobson   +6 more
doaj   +2 more sources

Novel compounds that synergize with aminoglycoside G418 or eRF3 degraders for translational readthrough of nonsense mutant TP53 and PTEN

RNA Biology, 2023
The TP53 and PTEN tumour suppressor genes are inactivated by nonsense mutations in a significant fraction of human tumours. TP53 nonsense mutant tumours account for approximately one million new cancer cases per year worldwide.
Angelos Heldin, Matko Cancer, Mireia Palomar-Siles, Susanne Öhlin, Meiqiongzi Zhang, Alexander Sun-Zhang, Anna Mariani, Jianping Liu, Vladimir J.N. Bykov, Klas G. Wiman   +9 more
doaj   +2 more sources

Complex and simple translational readthrough signals in pea enation mosaic virus 1 and potato leafroll virus, respectively.

PLoS Pathogens, 2022
Different essential viral proteins are translated via programmed stop codon readthrough. Pea enation mosaic virus 1 (PEMV1) and potato leafroll virus (PLRV) are related positive-sense RNA plant viruses in the family Solemoviridae, and are type members of
Tamari Chkuaseli, K Andrew White
doaj   +2 more sources

Transcription readthrough is prevalent in healthy human tissues and associated with inherent genomic features

Communications Biology
Transcription termination is a crucial step in the production of conforming mRNAs and functional proteins. Under cellular stress conditions, the transcription machinery fails to identify the termination site and continues transcribing beyond gene ...
Paulo Caldas, Mariana Luz, Simone Baseggio, Rita Andrade, Daniel Sobral, Ana Rita Grosso   +5 more
doaj   +2 more sources

A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion

Nature Communications, 2021
Premature termination codons (PTCs) prevent translation of a full-length protein and trigger nonsense-mediated mRNA decay (NMD). Nonsense suppression (also termed readthrough) therapy restores protein function by selectively suppressing translation ...
Venkateshwar Mutyam, Yao Li, Jamie R Wangen   +2 more
exaly   +2 more sources

Environment modulates protein heterogeneity through transcriptional and translational stop codon readthrough

Nature Communications
Stop codon readthrough events give rise to longer proteins, which may alter the protein’s function, thereby generating short-lasting phenotypic variability from a single gene.
Maria Luisa Romero Romero, Jonas Poehls, Anastasiia Kirilenko, Doris Richter, Tobias Jumel, Anna Shevchenko, Agnes Toth-Petroczy   +6 more
doaj   +2 more sources