Nonsense-mediated mRNA decay in humans at a glance

T Kurosaki, LE Maquat - Journal of cell science, 2016 - journals.biologists.com
Nonsense-mediated mRNA decay (NMD) is an mRNA quality-control mechanism that
typifies all eukaryotes examined to date. NMD surveys newly synthesized mRNAs and …

4-Thiazolidinones: the advances continue…

AC Tripathi, SJ Gupta, GN Fatima, PK Sonar… - European Journal of …, 2014 - Elsevier
The diversity in the biological response of 4-thiazolidinones has attracted the attention of
many researchers to explore this framework for its potential. It is, therefore, of prime …

Duchenne and Becker muscular dystrophies

KM Flanigan - Neurologic clinics, 2014 - neurologic.theclinics.com
The X-linked Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic
disorders occurring due to mutations in the DMD gene, which consists of 79 exons encoding …

Therapeutics based on stop codon readthrough

KM Keeling, X Xue, G Gunn… - Annual review of …, 2014 - annualreviews.org
Nonsense suppression therapy encompasses approaches aimed at suppressing translation
termination at in-frame premature termination codons (PTCs, also known as nonsense …

Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

M Dabrowski, Z Bukowy-Bieryllo, E Zietkiewicz - Molecular medicine, 2018 - Springer
Premature termination codons (PTCs) in the coding regions of mRNA lead to the incorrect
termination of translation and generation of non-functional, truncated proteins. Translational …

Nonsense-mediated decay in genetic disease: friend or foe?

JN Miller, DA Pearce - Mutation Research/Reviews in Mutation Research, 2014 - Elsevier
Eukaryotic cells utilize various RNA quality control mechanisms to ensure high fidelity of
gene expression, thus protecting against the accumulation of nonfunctional RNA and the …

Sense from nonsense: therapies for premature stop codon diseases

L Bidou, V Allamand, JP Rousset, O Namy - Trends in molecular medicine, 2012 - cell.com
Ten percent of inherited diseases are caused by premature termination codon (PTC)
mutations that lead to degradation of the mRNA template and to the production of a non …

ATM kinase: Much more than a DNA damage responsive protein

A Guleria, S Chandna - DNA repair, 2016 - Elsevier
ATM, mutation of which causes Ataxia telangiectasia, has emerged as a cardinal
multifunctional protein kinase during past two decades as evidenced by various studies from …

ATM is down-regulated by N-Myc–regulated microRNA-421

H Hu, L Du, G Nagabayashi… - Proceedings of the …, 2010 - National Acad Sciences
Ataxia-telangiectasia mutated (ATM) is a high molecular weight protein serine/threonine
kinase that plays a central role in the maintenance of genomic integrity by activating cell …

Nonsense suppression therapies in human genetic diseases

P Martins-Dias, L Romão - Cellular and Molecular Life Sciences, 2021 - Springer
About 11% of all human disease-associated gene lesions are nonsense mutations, resulting
in the introduction of an in-frame premature translation-termination codon (PTC) into the …