Results 71 to 80 of about 2,306,587 (203)

Identification and characterisation of novel involved in the nonsense-mediated mRNA decay (NMD) pathway

, 2016
Nonsense mediated mRNA decay (NMD) is a surveillance mechanism that targets transcripts containing premature stop codons (PTCs) for degradation, and that also regulates up to 10% of the whole transcriptome.
Casadio, Angela
core   +3 more sources

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

Translational repression of NMD targets by GIGYF2 and EIF4E2.

PLoS Genetics, 2021
Translation of messenger RNAs (mRNAs) with premature termination codons produces truncated proteins with potentially deleterious effects. This is prevented by nonsense-mediated mRNA decay (NMD) of these mRNAs.
Boris Zinshteyn, Niladri K Sinha, Syed Usman Enam, Benjamin Koleske, Rachel Green   +4 more
doaj   +1 more source

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

Clinical Genetics, EarlyView.
We identified a homozygous frameshift variant in KHDC4 (c.1535_1538del: (p.Lys512Argfs*8) in a consanguineous family with syndromic Retinitis Pigmentosa. Functional characterization shows aberrant protein mislocalisation from nuclear speckles to a diffuse pattern.
Asodu Sandeep Sarma, Neta Barnoy, Prakadeeswari Gopalakrishnan, Keren Dichter, Rotem Mizrachi, Manar Salameh, Eyal Banin, Dror Sharon, Adi Inbal, Samer Khateb   +9 more
wiley   +1 more source

[Nonsense-mediated mRNA decay (NMD)--on guard of mRNA quality].

Postepy biochemii, 2007
Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that protects cells from potentially harmful effects of truncated proteins that would otherwise be translated from mRNAs bearing premature termination codons (PTC). NMD targets not only aberrant mRNAs possessing PTCs resulting from mutations, transcription errors or abnormal splicing but is ...
Agnieszka, Dzikiewicz, Zofia, Szweykowska-Kulińska   +1 more
openaire   +1 more source

Understanding the Role of Phosphorylation of the Upf Proteins in the Activity of the Nonsense‐Mediated mRNA Decay (NMD) Pathway

The FASEB Journal, 2008
Nonsense‐mediated mRNA decay (NMD) is an mRNA surveillance mechanism that degrades transcripts harboring premature termination codons (PTCs), preventing the synthesis of potentially deleterious proteins. Upf1p, Upf2p, and Upf3p are central components of the NMD pathway in Saccharomyces cerevisiae.
Clarivel Lasalde, Iván J Cajigas, Alfredo León, Rosalyn González, José Cardé‐Serrano, Irving E Vega, Carlos I González   +6 more
openaire   +1 more source

Stop codon context modulates NMD efficiency through translation termination kinetics

Cell Genomics
Nonsense-mediated mRNA decay efficiency varies unpredictably across transcripts containing premature termination codons. A new study by Kolakada et al.1 demonstrates that glycine residues preceding stop codons create an extended translation termination ...
Dasa Longman, Laura Monaghan, Javier F. Cáceres   +2 more
doaj   +1 more source

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

The nuclear cap-binding protein complex is not essential for nonsense-mediated mRNA decay (NMD) in plants.

Acta Biochimica Polonica, 2008
In this study we investigated whether in plants, like in mammals, components of the nuclear cap-binding protein complex (CBC) are involved in nonsense-mediated mRNA decay (NMD). We selected several genes producing at least two alternatively spliced mRNA variants: one with a premature termination codon (PTC+) and another without it (PTC-). For each gene
Agnieszka, Dzikiewicz-Krawczyk, Paulina, Piontek, Zofia, Szweykowska-Kulińska, Artur, Jarmołowski   +3 more
openaire   +2 more sources

Predicting nonsense-mediated mRNA decay from splicing events in sepsis using RNA-sequencing data

Life Science Alliance
A computational analysis of alternative splicing and nonsense-mediated decay using critically ill patients’ RNA-sequencing data can elucidate sepsis transcriptomics and potentially associated protein targets.
Jaewook Shin, Alger M Fredericks, Brandon E Armstead, Alfred Ayala, Maya Cohen, William G Fairbrother, Mitchell M Levy, Kwesi K Lillard, Emanuele Raggi, Gerard J Nau, Sean F Monaghan   +10 more
doaj   +1 more source