Results 61 to 70 of about 59,267 (253)

Inhibition of post-termination ribosome recycling at premature termination codons in UPF1 ATPase mutants

eLife, 2020
Recognition and rapid degradation of mRNA harboring premature translation termination codons (PTCs) serves to protect cells from accumulating non-functional and potentially toxic truncated polypeptides. Targeting of PTC-containing transcripts is mediated
Lucas D Serdar, DaJuan L Whiteside, Sarah L Nock, David McGrath, Kristian E Baker   +4 more
doaj   +1 more source

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

Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model [PDF]

, 2011
AS (Apert syndrome) is a congenital disease composed of skeletal, visceral and neural abnormalities, caused by dominant-acting mutations in FGFR2 [FGF (fibroblast growth factor) receptor 2].
Anderson, Beenken, Bochukova, Burgar, Celli, Cohen, De Moerlooze, Duan, Duchesne, Ezzat, Fairbanks, Hajihosseini, Hajihosseini, Hajihosseini, Hajihosseini, Hajihosseini, Hanneken, Ibrahimi, Jang, Jang, Jang, John K. Heath, Jones, Kawano, Klein, Kuro-o, Lee M. Wheldon, Lewis, Maquat, McKeehan, Mendell, Meyers, Miki, Mohammad K. Hajihosseini, Muhlemann, Naila Khodabukus, Naski, Nelson, Oldridge, Peters, Polanska, Ricol, Saito, Sekine, Slaney, Smith, Susannah J. Patey, Takaishi, Tanimoto, Terada, Terence G. Smith, Tsang, Tsukuno, Werner, Wheldon, Wilkie, Yamaguchi, Zhang   +57 more
core   +3 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Investigating the mechanism behind the feedback regulation of the Exon Junction Complex component MAGOH [PDF]

, 2020
RNA binding proteins are critical for regulation of RNA function, and therefore maintaining appropriate levels of these proteins is important for cellular regulation.
Nega, Abigail
core  

Virus Escape and Manipulation of Cellular Nonsense-Mediated mRNA Decay [PDF]

, 2017
Nonsense-mediated mRNA decay (NMD), a cellular RNA turnover pathway targeting RNAs with features resulting in aberrant translation termination, has recently been found to restrict the replication of positive-stranded RNA((+) RNA) viruses.
Balistreri, Giuseppe, Bognanni, Claudia, Mhlemann, Oliver   +2 more
core   +2 more sources

Integrating Spatial Proteogenomics in Cancer Research

Advanced Science, EarlyView.
Xx xx. ABSTRACT Background: Spatial proteogenomics marks a paradigm shift in oncology by integrating molecular analysis with spatial information from both spatial proteomics and other data modalities (e.g., spatial transcriptomics), thereby unveiling tumor heterogeneity and dynamic changes in the microenvironment.
Yida Wang, Yang Wu, Feng Zhang, Parthiban Periasamy, Haiyue You, Denise Goh, Rachel Elizabeth Ann Fincham, Xin Ning, Danping Wu, Lu Liu, Ying Jiang, Zhiwen Qian, Joe Yeong, Yan Zhang   +13 more
wiley   +1 more source

Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion

Haematologica, 2008
Background In mammalian cells a regulatory mechanism, known as nonsense-mediated mRNA decay, degrades mRNA harboring premature termination codons. This mechanism is intron-dependent and functions as a quality control mechanism to eliminate abnormal ...
Isabella Garagiola, Carla Valsecchi, Silvia Lavoretano, Hale Oren, Martina Bohm, Flora Peyvandi   +5 more
doaj   +1 more source

A system for coordinated analysis of translational readthrough and nonsense-mediated mRNA decay. [PDF]

PLoS ONE, 2017
The nonsense-mediated mRNA decay (NMD) pathway degrades mRNAs containing premature termination codons, limiting the expression of potentially deleterious truncated proteins.
Stacey L Baker, J Robert Hogg
doaj   +1 more source

Nonsense-Mediated mRNA Decay Begins Where Translation Ends [PDF]

Cold Spring Harbor Perspectives in Biology, 2018
Nonsense-mediated mRNA decay (NMD) is arguably the best-studied eukaryotic messenger RNA (mRNA) surveillance pathway, yet fundamental questions concerning the molecular mechanism of target RNA selection remain unsolved. Besides degrading defective mRNAs harboring premature termination codons (PTCs), NMD also targets many mRNAs encoding functional full ...
Evangelos D, Karousis, Oliver, Mühlemann   +1 more
openaire   +2 more sources