Results 51 to 60 of about 41,960 (230)

Nonsense-mediated mRNA decay uses complementary mechanisms to suppress mRNA and protein accumulation

Life Science Alliance, 2022
A reporter system for quantitative measurements of NMD-sensitive mRNA and protein levels in mammalian cells shows that NMD suppresses protein levels to a greater degree than RNA levels. Nonsense-mediated mRNA decay (NMD) is an essential, highly conserved
Dylan B Udy, Robert K Bradley
doaj   +1 more source

Interaction of yeast eIF4G with spliceosome components Implications in pre-mRNA processing events [PDF]

, 2009
International audienceAs evidenced from mammalian cells the eukaryotic translation initiation factor eIF4G has a putative role in nuclear RNA metabolism. Here we investigate whether this role is conserved in the yeast Saccharomyces cerevisiae.
Barrass, J. David, Beggs, Jean D., Fromont-Racine, Micheline, Jacquier, Alain, Kafasla, Panagiota, Lewis, Joe, Thompson, Elizabeth   +6 more
core   +2 more sources

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation [PDF]

, 2016
Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the
A Pijpe, A Vral, Anne Vral, Annelot Baert, B Ernestos, Bruce Poppe, D Goldfrank, E Febrer, EKJ Pauwels, EM John, F Cardinale, FJ Couch, Fransiska Malfait, G Sioftanos, GE Pantelias, Gianpaolo Perletti, GJ Heyes, H Nikjoo, I Cousineau, IM Obdeijn, J Barwell, J Depuydt, J Gronwald, J Lecarpentier, JC Drooger, JC Théry, Jenneke van den Ende, JL Bernheim, JM Hair, Julie Depuydt, K Claes, K Claes, K Claes, K Leeneer De, Kathleen B. M. Claes, Katrien Storm, KE Rieger, Kim De Leeneer, KW Caestecker, L Perrin-Vidoz, L Salmena, M Frankenberg-Schwager, M Sedic, ME Dextraze, MS Sasaki, N Andrieu, N Foray, N Li, O Anczuków, O Popanda, P Pfeiffer, P Willems, R Roy, RI Yarden, RJ Linger, S Gutiérrez-Enríquez, S Pathania, SA Narod, Sylvia De Nobele, T Vaclová, TA Buchholz, Tim Van Damme, Tom Van Maerken, U Hagen, V Giannakeas, WD Foulkes, Z Guo, Z Kote-Jarai   +67 more
core   +4 more sources

Caspases shutdown nonsense-mediated mRNA decay during apoptosis [PDF]

Cell Death & Differentiation, 2015
Nonsense-mediated mRNA decay (NMD) is an mRNA surveillance mechanism that plays integral roles in eliminating mRNAs with premature termination codons to prevent the synthesis of truncated proteins that could be pathogenic. One response to the accumulation of detrimental proteins is apoptosis, which involves the activation of enzymatic pathways leading ...
Jia, Jieshuang, Furlan, Alessandro, Gonzalez-Hilarion, Sara, Leroy, Catherine, Gruenert, Dieter, Tulasne, David, Lejeune, Fabrice   +6 more
openaire   +4 more sources

Inhibition of Nonsense-Mediated mRNA Decay by Antisense Morpholino Oligonucleotides Restores Functional Expression of hERG Nonsense and Frameshift Mutations in Long-QT Syndrome

, 2010
Mutations in the human ether-a-go-go-related gene (hERG) cause long-QT syndrome type 2 (LQT2). We previously described a homozygous LQT2 nonsense mutation Q1070X in which the mutant mRNA is degraded by nonsense-mediated mRNA decay (NMD) leading to a ...
Bhuiyan, Bhuiyan, Conti, Curran, Dominski, Friedman, Frischmeyer, Gong, Gong, Gritz, Holbrook, Howard, Jearawiriyapaisarn, Kapplinger, Khajavi, Kuzmiak, Le Hir, Le Roy, Linde, Lykke-Andersen, Matthew R. Stump, Millat, Nagy, Napolitano, Nicholson, Qiuming Gong, Sanguinetti, Schwartz, Shimizu, Splawski, Stalder, Tester, Trudeau, Usuki, Wu, Yao, Zhang, Zhengfeng Zhou, Zhou, Zhou   +39 more
core   +1 more source

Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]

, 2018
Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes,
Dutcher, Susan K., Iomini, Carlo, Lin, Huawen, Zhang, Zhengyan   +3 more
core   +2 more sources

Nonsense-Mediated Decay of HumanHEXA mRNA [PDF]

Molecular and Cellular Biology, 2001
Nonsense-mediated mRNA decay (NMD), the loss of mRNAs carrying premature stop codons, is a process by which cells recognize and degrade nonsense mRNAs to prevent possibly toxic effects of truncated peptides. Most mammalian nonsense mRNAs are degraded while associated with the nucleus, but a few are degraded in the cytoplasm; at either site, there is a ...
K S, Rajavel, E F, Neufeld
openaire   +2 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

ATP hydrolysis by UPF1 is required for efficient translation termination at premature stop codons

Nature Communications, 2016
Nonsense-mediated mRNA decay (NMD) is a quality control pathway that recognizes and degrades transcripts harbouring nonsense mutations. Here the authors show that the ATPase activity of UPF1 mediates functional interactions between the NMD machinery and ...
Lucas D. Serdar, DaJuan L. Whiteside, Kristian E. Baker   +2 more
doaj   +1 more source

Characterization of the mIF4G Domains in the RNA Surveillance Protein Upf2p

Current Issues in Molecular Biology, 2023
Thirty percent of all mutations causing human disease generate mRNAs with premature termination codons (PTCs). Recognition and degradation of these PTC-containing mRNAs is carried out by the mechanism known as nonsense-mediated mRNA decay (NMD).
Edgardo M. Colón, Luis A. Haddock, Clarivel Lasalde, Qishan Lin, Juan S. Ramírez-Lugo, Carlos I. González   +5 more
doaj   +1 more source