Results 1 to 10 of about 65,383 (280)

Compound C inhibits nonsense-mediated RNA decay independently of AMPK [PDF]

PLoS ONE, 2018
The nonsense mediated RNA decay (NMD) pathway safeguards the integrity of the transcriptome by targeting mRNAs with premature translation termination codons (PTCs) for degradation.
Cheruiyot, Abigael, Fitzpatrick, James A. J., Li, Shan, Nickless, Andrew, Roth, Robyn, You, Zhongsheng   +5 more
core   +4 more sources

SMG6's PIN (PilT N-Terminus) Domain Is Required for Nonsense-Mediated mRNA Decay (NMD) <i>In Vivo</i>. [PDF]

Cells
Nonsense-mediated mRNA decay (NMD) is a highly conserved RNA quality and quantity surveillance machinery in eukaryotic cells, serving as an important node in the post-transcriptional gene expression.
Chai B, Tan X, Li Y, Chen C, Ma X, Li T.
europepmc   +2 more sources

Nimodipine Nanoparticles: A Promising Approach for Glaucoma Management. [PDF]

Pharmaceutics
Background/Objectives: Glaucoma is a multifactorial eye disease that can cause optic nerve damage and irreversible blindness. It is considered a significant public health problem worldwide. Topical intraocular pressure (IOP)-lowering eye preparations are
Maria DN, Maria SN, Jablonski MM, Ibrahim MM.   +3 more
europepmc   +2 more sources

Nonsense-mediated mRNA decay: a key regulatory system engaged in cancer. [PDF]

Cell Commun Signal
Nonsense-mediated mRNA decay (NMD) is a critical cellular surveillance mechanism that prevents the translation of defective or deleterious proteins. The regulation of NMD, including both its activation and the evasion of its target mRNA, is intricately ...
Pan H, Wu X, Hu B, Xiong H, Luo Y, Zhou JK.   +5 more
europepmc   +2 more sources

Variable efficiency of nonsense-mediated mRNA decay across human tissues, tumors and individuals. [PDF]

Genome Biol
Background Nonsense-mediated mRNA decay (NMD) is a quality-control pathway that degrades mRNA bearing premature termination codons (PTCs) resulting from mutation or mis-splicing, and that additionally participates in gene regulation of unmutated ...
Palou-Márquez G, Supek F.
europepmc   +2 more sources

A comprehensive coverage insurance for cells: revealing links between ribosome collisions, stress responses and mRNA surveillance

RNA Biology, 2022
Cells of metazoans respond to internal and external stressors by activating stress response pathways that aim for re-establishing cellular homoeostasis or, if this cannot be achieved, triggering programmed cell death. Problems during translation, arising
Soumasree De, Oliver Mühlemann
doaj   +1 more source

Molecular profiling of individual FDA-approved clinical drugs identifies modulators of nonsense-mediated mRNA decay

Molecular Therapy: Nucleic Acids, 2022
Nonsense-mediated mRNA decay (NMD) degrades transcripts with premature stop codons. Given the prevalence of nonsense single nucleotide polymorphisms (SNPs) in the general population, it is urgent to catalog the effects of clinically approved drugs on NMD
Jingrong Zhao, Zhelin Li, Ruchira Puri, Kelvin Liu, Israel Nunez, Liang Chen, Sika Zheng   +6 more
doaj   +1 more source

Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience

Orphanet Journal of Rare Diseases, 2023
Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy. Nusinersen is the first disease-modifying drug for all SMA types. We report
Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczyk   +12 more
doaj   +1 more source

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

Open Biology, 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, IFT81 (fla9) and IFT121 (ift121-2), which ...
Huawen Lin, Zhengyan Zhang, Carlo Iomini, Susan K. Dutcher   +3 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