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SMARD1 is an infantile autosomal recessive motor neuron (MN) disease, caused by mutations in the Immunoglobulin mu binding protein 2 (IGHMBP2). We investigated the potential of a spinal cord neural stem cell population isolated on the basis of aldehyde dehydrogenase activity (ALDH) to modify disease...
ORGANISM(S): Mus musculus 
All eukaryotes studied to date have the capacity to detect and degrade mRNAs harboring premature translation termination codons (PTCs) in a process called nonsense-mediated mRNA decay (NMD) (reviewed in Wagner E & Lykke-Andersen J, 2002). This surveillance system allows the cell to prevent the expre...
ORGANISM(S): Drosophila melanogaster 
CRISPR screen for NMD regulators
Nonsense-mediated mRNA decay (NMD) surveillance pathways are best known to be involved in the degradation of mRNA with premature termination codons (PTCs). More recent studies demonstrate that the role of NMD pathways goes well beyond the degradation of PTC containing mRNA, into the regulation of ce...
ORGANISM(S): Homo sapiens 
Two core factors of the NMD machinery in D. melanogaster, Upf1 and Upf2, were knocked down using RNAi, as described in Rehwinkel et al. (2005) RNA, PMID: 16199763. Each of the two knockdowns were compared to mock RNAi knockdowns as described in Blanchette et al. (2005) Genes Dev, PMID: 15937219 in a...
ORGANISM(S): Drosophila melanogaster 
Identification of NMD regulated genes in Nicotiana benthamiana
Untargeted LC-MSMS proteomics from muscle biopsy of index patient NME-058 of the NMD-GPS cohort.
ORGANISM(S): Homo sapiens (Human) 
2026-06-15 | PXD065567 | Pride
SEC13 functions in the NMD pathway and together with core NMD factors regulates the unfolded protein response
Translation of messenger RNAs (mRNAs) with premature translation termination codons produces truncated proteins with potentially deleterious effects. This is prevented by nonsense-mediated mRNA decay (NMD) of these mRNAs. NMD is triggered by ribosomes terminating upstream of a splice site marked by ...
ORGANISM(S): Homo sapiens (Human) 
2021-10-12 | PXD027479 | Pride
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. Although many genes express NMD-sensitive transcripts, identifying them...
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