De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures
Frontiers in Neurology, 2021 Objectives: Mutations in the STXBP1 gene have been associated with epileptic encephalopathy. Previous studies from in vitro neuroblastoma 2A cells showed that haploinsufficiency of STXBP1 is the mechanism for epileptic encephalopathy.
Ping Yang +9 more
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Identification and characterization of novel factors that act in the nonsense-mediated mRNA decay pathway in nematodes, flies and mammals [PDF]
, 2014 Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that degrades mRNAs harboring premature termination codons (PTCs). We have conducted a genome-wide RNAi screen in Caenorhabditis elegans that resulted in the identification of five novel NMD ...
Ailion M +8 more
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Molecular Interaction of Nonsense-Mediated mRNA Decay with Viruses
Viruses, 2023 The virus–host interaction is dynamic and evolutionary. Viruses have to fight with hosts to establish successful infection. Eukaryotic hosts are equipped with multiple defenses against incoming viruses.
Md Robel Ahmed, Zhiyou Du
doaj +1 more source
Full UPF3B function is critical for neuronal differentiation of neural stem cells [PDF]
, 2015 Acknowledgments We thank Fred H Gage (Salk Institute, La Jolla, CA, USA) for HCN-A94 cells and Niels Gehring (University of Cologne, Germany) for constructs.
Alrahbeni, Tahani +5 more
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Quantitative proteomic dataset of the moss Physcomitrium patens SMG1 KO mutant line
Data in Brief, 2022 Nonsense-mediated RNA decay (NMD) mechanism controls the quality of eukaryotic mRNAs by degradation of aberrant transcripts with a premature stop codon (PTC) in a pioneer round of translation.
Anna Mamaeva +2 more
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Identification of novel post-transcriptional features in olfactory receptor family mRNAs. [PDF]
, 2015 Olfactory receptor (Olfr) genes comprise the largest gene family in mice. Despite their importance in olfaction, how most Olfr mRNAs are regulated remains unexplored.
Espinoza, Josh L +3 more
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Non-Coding RNA, 2021 The Nonsense-Mediated mRNA Decay (NMD) has been classically viewed as a translation-dependent RNA surveillance pathway degrading aberrant mRNAs containing premature stop codons.
Sara Andjus +2 more
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Viruses and the cellular RNA decay machinery. [PDF]
, 2010 The ability to control cellular and viral gene expression, either globally or selectively, is central to a successful viral infection, and it is also crucial for the host to respond and eradicate pathogens.
Gaglia, Marta, Glaunsinger, Britt
core +1 more source
Identification of a novel human E-Cadherin splice variant andassessment of its effects upon EMT-related events [PDF]
, 2018 Epithelial Cadherin (E-cadherin) is involved in calcium-dependent cell-cell adhesion and signal transduction. The E-cadherin decrease/loss is a hallmark of Epithelial to Mesenchymal Transition (EMT), a key event in tumor progression.
Besso, María José +8 more
core +1 more source
Modulation of nonsense mediated decay by rapamycin [PDF]
Nucleic Acids Research, 2016 Rapamycin is a naturally occurring macrolide whose target is at the core of nutrient and stress regulation in a wide range of species. Despite well-established roles as an inhibitor of cap-dependent mRNA translation, relatively little is known about its effects on other modes of RNA processing.
Martinez-Nunez, Rocio T +10 more
openaire +6 more sources