Results 11 to 20 of about 65,383 (280)

Nonsense-mediated mRNA decay uses complementary mechanisms to suppress mRNA and protein accumulation

open access: yesLife Science Alliance, 2022
A reporter system for quantitative measurements of NMD-sensitive mRNA and protein levels in mammalian cells shows that NMD suppresses protein levels to a greater degree than RNA levels. Nonsense-mediated mRNA decay (NMD) is an essential, highly conserved
Dylan B Udy, Robert K Bradley
doaj   +1 more source

A regulated NMD mouse model supports NMD inhibition as a viable therapeutic option to treat genetic diseases

open access: yesDisease Models & Mechanisms, 2020
Nonsense-mediated mRNA decay (NMD) targets mRNAs that contain a premature termination codon (PTC) for degradation, preventing their translation. By altering the expression of PTC-containing mRNAs, NMD modulates the inheritance pattern and severity of ...
Josh Echols   +6 more
doaj   +1 more source

The Importance of Muscle and Nerve Biopsies in the Diagnosis of Neuromuscular Diseases

open access: yesForbes Tıp Dergisi, 2020
Although the etiopathogenesis of infections has been largely illuminated by technical and scientific developments in the past century; many issues are still not clear today. The motto 'there is no disease, there is a patient' expressed by our instructors
Gülden Diniz
doaj   +1 more source

Nanopore sequencing reveals endogenous NMD-targeted isoforms in human cells

open access: yesGenome Biology, 2021
Background Nonsense-mediated mRNA decay (NMD) is a eukaryotic, translation-dependent degradation pathway that targets mRNAs with premature termination codons and also regulates the expression of some mRNAs that encode full-length proteins.
Evangelos D. Karousis   +3 more
doaj   +1 more source

Identification and characterization of novel factors that act in the nonsense-mediated mRNA decay pathway in nematodes, flies and mammals [PDF]

open access: yes, 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
core   +2 more sources

Identification and functional analysis of novel phosphorylation sites in the RNA surveillance protein Upf1. [PDF]

open access: yes, 2013
One third of inherited genetic diseases are caused by mRNAs harboring premature termination codons as a result of nonsense mutations. These aberrant mRNAs are degraded by the Nonsense-Mediated mRNA Decay (NMD) pathway.
Bracho, Dina P   +11 more
core   +1 more source

Mapping genetic variants for nonsense-mediated mRNA decay regulation across human tissues

open access: yesGenome Biology, 2023
Background Nonsense-mediated mRNA decay (NMD) was originally conceived as an mRNA surveillance mechanism to prevent the production of potentially deleterious truncated proteins. Research also shows NMD is an important post-transcriptional gene regulation
Bo Sun, Liang Chen
doaj   +1 more source

Hyperphosphorylation amplifies UPF1 activity to resolve stalls in nonsense-mediated mRNA decay. [PDF]

open access: yes, 2016
Many gene expression factors contain repetitive phosphorylation sites for single kinases, but the functional significance is poorly understood. Here we present evidence for hyperphosphorylation as a mechanism allowing UPF1, the central factor in nonsense-
Durand, Sébastien   +2 more
core   +3 more sources

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