Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

By L. Maquat. Nature reviews. Molecular cell biology, 2004

1,280 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/f869b2cd30beecaf0b61261921b2424cf9577337

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Molecular Biology

Citations in the corpus

Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. (2006, background): “…mRNA containing premature termination codons (PTCs) to eliminate potentially harmful C-terminally truncated proteins (Peltz et al. 1994; Wilkinson and Shyu 2001; Wilusz et al. 2001; Culbertson and Leeds 2003; Baker and Parker 2004; Maquat 2004; Conti and Izaurralde 2005; Yamashita et al. 2005).”
Nonsense-mediated decay approaches the clinic (2004, background): “A translation termination codon is generally interpreted as normal if no intron follows more than 50 nucleotides downstrea”
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016, neutral): “” Nature neuroscience 19 (11): 1433-1441.”
Opportunities and challenges Genome-wide analyses of alternative splicing in plants: (2008, positive): “Lewis et al. (2003) determined that 35% of a set of >3000 alternatively spliced human genes have predicted isoforms that result in PTCs, concluded that ∼75% of these are apparent targets for NMD, and proposed that coupled AS and NMD plays a functional role in regulating protein expression levels.”
Convergence of Acquired Mutations and Alternative Splicing of CD19 Enables Resistance to CART-19 Immunotherapy (2015, background): “However, leukemia CHOP133R suffered hemizygous loss of the entire chromosome 16, and the remaining allele contained a frameshift mutation also in exon 2 (Table 1), which could have led to nonsense-mediated decay (14).”
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. (2006, background): “The transcript resulting from this mutation is predicted to have a premature termination codon within exon 34, and, since this is the last exon, the transcript is not predicted to undergo nonsense-mediated mRNA decay.(12) The resulting protein is predicted to lack three of the seven ankyrin repeats ”
Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. (2007, background): “Additionally, inhibiting the interaction of Smg5 with the Upf1–Smg6–Smg7 complex using the small hydrophobic tetracyclic indole derivative NMDI1 results in the accumulation of phosphorylated Upf1 (Durand et al. 2007).”
PTC124 targets genetic disorders caused by nonsense mutations (2007, background): “These analyses identified PTC124 (3-[5-(2-fluorophenyl)-[1,2,4]oxadiazol-3-yl]-benzoic acid; C15H9FN2O3) as a candidate for further development.”
Computational definition of sequence motifs governing constitutive exon splicing. (2004, methodology): “Exceptions to NMD have been previously noted (Enssle et al. 1993; Danckwardt et al. 2002; Maquat 2004; Neu-Yilik et al. 2004, and references therein).”