Results 51 to 60 of about 17,359 (221)

Direct RNA sequencing dataset of SMG1 KO mutant Physcomitrella (Physcomitrium patens)

Data in Brief, 2020
Nonsense-mediated mRNA decay (NMD) is a system that controls the quality of mRNA transcripts in eukaryotes by degradation of aberrant transcripts in a pioneer round of translation.
Andrey Knyazev, Anna Glushkevich, Igor Fesenko   +2 more
doaj   +1 more source

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics [PDF]

, 2019
Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC).
Adam M Dubis, Ailsa A Welch, Andreas Mitsios, Andrew R Webster, Carter, Floquet, Freund, Gonzalez-Hilarion, Gotham, Hajrah Sarkar, Hug, Jane Skinner, Jolly, Keeling, Kerem, Linde, Linde, Lindeboom, Mariya Moosajee, Matthew Smart, Moosajee, Moosajee, Nagy, Nguyen, Nickless, Peixeiro, Pereira, Peter J Coffey, Richardson, Schwarz, Torriano, Usuki, Vasiliki Kalatzis, Welch, Yamashita, Zetoune   +35 more
core   +2 more sources

Nonsense-Mediated mRNA Decay, a Finely Regulated Mechanism

Biomedicines, 2022
Nonsense-mediated mRNA decay (NMD) is both a mechanism for rapidly eliminating mRNAs carrying a premature termination codon and a pathway that regulates many genes.
Fabrice Lejeune
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

Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases. [PDF]

PLoS ONE, 2017
About 10% of patients with a genetic disease carry a nonsense mutation causing their pathology. A strategy for correcting nonsense mutations is premature termination codon (PTC) readthrough, i.e.
Hana Benhabiles, Sara Gonzalez-Hilarion, Séverine Amand, Christine Bailly, Anne Prévotat, Philippe Reix, Dominique Hubert, Eric Adriaenssens, Sylvie Rebuffat, David Tulasne, Fabrice Lejeune   +10 more
doaj   +1 more source

Nonsense-Mediated mRNA Decay Factor Functions in Human Health and Disease

Biomedicines, 2023
Nonsense-mediated mRNA decay (NMD) is a cellular surveillance mechanism that degrades mRNAs with a premature stop codon, avoiding the synthesis of C-terminally truncated proteins. In addition to faulty mRNAs, NMD recognises ~10% of endogenous transcripts
Lingling Sun, Justine Mailliot, Christiane Schaffitzel   +2 more
doaj   +1 more source

Insights into the assembly and architecture of a Staufen-mediated mRNA decay (SMD)-competent mRNP [PDF]

, 2019
The mammalian Staufen proteins (Stau1 and Stau2) mediate degradation of mRNA containing complex secondary structures in their 3’-untranslated region (UTR) through a pathway known as Staufen-mediated mRNA decay (SMD).
Gowravaram, Manjeera, Khilji, Sana K., Schwarz, Juliane, Sutapa, Chakrabarti, Urlaub, Henning   +4 more
core   +1 more source

Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question [PDF]

Current Opinion in Genetics & Development, 2011
Nonsense-mediated mRNA decay (NMD) is a well-studied cellular quality-control pathway. It decreases the half-lives of eukaryotic mRNAs that aberrantly contain premature termination codons and additionally regulates an estimated 10-20% of normal transcripts. NMD factors play crucial roles during embryogenesis in many animals.
Jungwook, Hwang, Lynne E, Maquat
openaire   +2 more sources

Degradation of YRA1 Pre-mRNA in the cytoplasm requires translational repression, multiple modular intronic elements, Edc3p, and Mex67p. [PDF]

PLoS Biology, 2010
Intron-containing pre-mRNAs are normally retained and processed in the nucleus but are sometimes exported to the cytoplasm and degraded by the nonsense-mediated mRNA decay (NMD) pathway as a consequence of their inclusion of intronic in-frame termination
Shuyun Dong, Allan Jacobson, Feng He
doaj   +1 more source

Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs) [PDF]

, 2019
This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations.
Campofelice A., Di Leonardo A., Lentini L., Melfi R., Pace A., Pibiri I., Tutone M.   +6 more
core   +1 more source