Results 91 to 100 of about 8,024 (201)

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

Unveiling the Role of circRNAs in Pyroptotic Signalling: From Molecular Crosstalk to Disease Modulation

Journal of Cellular and Molecular Medicine, Volume 29, Issue 22, November 2025.
ABSTRACT Pyroptosis is a gasdermins‐dependent programmed cell death (PCD) characterised by progressive cellular swelling and plasma membrane rupture (PMR). This process releases intracellular contents that amplify inflammatory cascades and immune activation, involving the pathogenesis of various disorders such as tumours, heart and vascular diseases ...
Tengyu Jin, Guodong Xu, Wanru Zhou, Yige Shi, Hebo Wang   +4 more
wiley   +1 more source

SARS-CoV-2 helicase might interfere with cellular nonsense-mediated RNA decay: insights from a bioinformatics study

BMC Genomic Data, 2023
Background Viruses employ diverse strategies to interfere with host defense mechanisms, including the production of proteins that mimic or resemble host proteins.
Behnia Akbari, Ehsan Ahmadi, Mohammad Reza Zabihi, Mina Roshan Zamir, Mina Sadeghi Shaker, Farshid Noorbakhsh   +5 more
doaj   +1 more source

RNA Granules at the Crossroads of Synaptic Dysfunction and Neurodegeneration

Journal of Neurochemistry, Volume 169, Issue 11, November 2025.
Under physiological conditions, neuronal RNA granules (e.g., transport granules, activity‐dependent granules, processing bodies, and stress granules) cooperate to regulate mRNA transport, storage, and localized translation, thereby sustaining synaptic and neuronal functions.
Rita Nóbrega‐Martins, Beatriz Barros‐Santos, Georgia Papadimitriou, Ioannis Sotiropoulos, Benjamin Wolozin, Joana Margarida Silva   +5 more
wiley   +1 more source

A post-translational regulatory switch on UPF1 controls targeted mRNA degradation [PDF]

Genes & Development, 2014
Nonsense-mediated mRNA decay (NMD) controls the quality of eukaryotic gene expression and also degrades physiologic mRNAs. How NMD targets are identified is incompletely understood. A central NMD factor is the ATP-dependent RNA helicase upframeshift 1 (UPF1).
Kurosaki, Tatsuaki, Li, Wencheng, Hoque, Mainul, Popp, Maximilian W.-L., Ermolenko, Dmitri N., Tian, Bin, Maquat, Lynne E.   +6 more
openaire   +2 more sources

Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity

eLife, 2020
PI3K-related kinases (PIKKs) are large Serine/Threonine (Ser/Thr)-protein kinases central to the regulation of many fundamental cellular processes.
Lukas M Langer, Yair Gat, Fabien Bonneau, Elena Conti   +3 more
doaj   +1 more source

Intron retention-dependent gene regulation in Cryptococcus neoformans [PDF]

, 2016
The biological impact of alternative splicing is poorly understood in fungi, although recent studies have shown that these microorganisms are usually intron-rich. In this study, we re-annotated the genome of C. neoformans var.
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core   +1 more source

Inhibiting UPF1 methylation enhances tumor immunotherapy sensitivity by reducing nonsense-mediated mRNA decay

Cell Reports
Summary: Nonsense-mediated mRNA decay (NMD) is a conserved RNA surveillance mechanism. Inhibition of NMD leads to increased expression of tumor neoantigens encoded by genes with premature termination codons (PTCs), thereby enhancing tumor immunogenicity.
Shengyu Zhu, Yucong Bai, Dongjing Zhang, Changsheng Huang, Xu Qian, Pengcheng Li, Tianci Xie, Qi Wu, Anyi Liu, Tong Zhu, Wangshuo Yang, Xiaowei She, Mao Li, Zejun Rao, Siqi Chen, Lang Liu, Chengxin Yu, Xiang Liu, Guihua Wang, Guangyong Zhang, Junbo Hu   +20 more
doaj   +1 more source

Resistance of mRNAs with AUG-proximal nonsense mutations to nonsense-mediated decay reflects variables of mRNA structure and translational activity. [PDF]

, 2015
Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4513866/Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that recognizes and selectively degrades mRNAs carrying premature termination codons (PTCs).
Kong, Jian, Liebhaber, Stephen A, Pereira, Francisco, Romão, Luísa, Siva, Ana Luísa   +4 more
core   +1 more source

Posttranscriptional Control of the Stem Cell and Neurogenic Programs by the Nonsense-Mediated RNA Decay Pathway

Cell Reports, 2014
The mechanisms dictating whether a cell proliferates or differentiates have undergone intense scrutiny, but they remain poorly understood. Here, we report that UPF1, a central component in the nonsense-mediated RNA decay (NMD) pathway, plays a key role ...
Chih H. Lou, Ada Shao, Eleen Y. Shum, Josh L. Espinoza, Lulu Huang, Rachid Karam, Miles F. Wilkinson   +6 more
doaj   +1 more source