Results 111 to 120 of about 17,359 (221)

TDP43 and hnRNP K Regulate Alternative Splicing of DNAJC5

open access: yesCell Biology International, Volume 50, Issue 4, April 2026.
ABSTRACT Alternative splicing is a finely regulated process which defines the final maturation of pre‐mRNAs. Modulation of trans‐acting spliceosome proteins changes specific patterns of splicing and contributes to the development of diseases. During Amyotrophic Lateral Sclerosis (ALS) disease progression, loss of nuclear trans‐acting splicing protein ...
Helder Y. Nagasse   +2 more
wiley   +1 more source

Control of gene expression through the nonsense-mediated RNA decay pathway

open access: yesCell & Bioscience, 2017
Nonsense-mediated RNA decay (NMD) was originally discovered as a cellular surveillance pathway that safeguards the quality of mRNA transcripts in eukaryotic cells.
Andrew Nickless   +2 more
doaj   +1 more source

Immunity of the Saccharomyces cerevisiae SSY5 mRNA to nonsense-mediated mRNA decay.

open access: yesFrontiers in Molecular Biosciences, 2014
The nonsense-mediated mRNA decay (NMD) pathway is a specialized pathway that triggers the rapid degradation of select mRNAs. Initially identified as a pathway that degrades mRNAs with premature termination codons, NMD is now recognized as a pathway that ...
Bessie Wanja Kebaara   +3 more
doaj   +1 more source

Protecting the proteome: Eukaryotic cotranslational quality control pathways. [PDF]

open access: yes, 2014
The correct decoding of messenger RNAs (mRNAs) into proteins is an essential cellular task. The translational process is monitored by several quality control (QC) mechanisms that recognize defective translation complexes in which ribosomes are stalled on
Bennett, Eric J, Lykke-Andersen, Jens
core   +2 more sources

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype–Phenotype Correlation

open access: yes
International Journal of Dermatology, EarlyView.
Agathe Hercent   +6 more
wiley   +1 more source

Physiological role and quantitative aspects of human Nonsense-mediated mRNA decay (NMD)

open access: yes, 2007
Nonsense-mediated mRNA decay (NMD) is a molecular pathway of mRNA surveillance that ensures the rapid degradation of mRNAs containing premature translation termination codons in all studied eukaryotes. Originally, NMD was thought of as a quality control pathway that targets non-functional mRNAs arising from mutations and splicing errors. More recently,
openaire   +2 more sources

Rescue of nonsense mutations by amlexanox in human cells

open access: yesOrphanet Journal of Rare Diseases, 2012
Background Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA surveillance mechanism called nonsense ...
Gonzalez-Hilarion Sara   +9 more
doaj   +1 more source

A novel phosphorylation-independent interaction between SMG6 and UPF1 is essential for human NMD [PDF]

open access: yes, 2017
Eukaryotic mRNAs with premature translation-termination codons (PTCs) are recognized and eliminated by nonsense-mediated mRNA decay (NMD). NMD substrates can be degraded by different routes that all require phosphorylated UPF1 (P-UPF1) as a starting ...
Josi, Christoph   +4 more
core  

A Role for the Nonsense-Mediated mRNA Decay Pathway in Maintaining Genome Stability in Caenorhabditis elegans [PDF]

open access: yes, 2017
Ionizing radiation (IR) is commonly used in cancer therapy and is a main source of DNA double-strand breaks (DSBs), one of the most toxic forms of DNA damage. We have used Caenorhabditis elegans as an invertebrate model to identify novel factors required
Gartner, Anton   +2 more
core   +3 more sources

Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases

open access: yesDiseases, 2016
In-frame premature termination codons (PTCs) (also referred to as nonsense mutations) comprise ~10% of all disease-associated gene lesions. PTCs reduce gene expression in two ways.
Kim M. Keeling
doaj   +1 more source

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