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Cited by 80RNA Research and SplicingRNA regulation and diseaseRNA and protein synthesis mechanisms

Nonsense-Mediated mRNA Decay, a Finely Regulated Mechanism

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Lejeune, Fabrice·2022·Biomedicines
DOI 10.3390/biomedicines10010141PMC PMC8773229
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Abstract

Nonsense-mediated mRNA decay (NMD) is both a mechanism for rapidly eliminating mRNAs carrying a premature termination codon and a pathway that regulates many genes. This implies that NMD must be subject to regulation in order to allow, under certain physiological conditions, the expression of genes that are normally repressed by NMD. Therapeutically, it might be interesting to express certain NMD-repressed genes or to allow the synthesis of functional truncated proteins. Developing such approaches will require a good understanding of NMD regulation. This review describes the different levels of this regulation in human cells.

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  • These findings support the involvement of nonsense-mediated mRNA decay, as both mutations introduce premature termination codons that meet established criteria for triggering this pathway.

    “These findings collectively support the involvement of nonsense-mediated mRNA decay (NMD), as both mutations introduce premature termination codons (PTCs) that meet the established criteria for triggering this pathway28.”

    From PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal cultures (2026) · cites this paper as [28]

    Section 2.1, “The NMD Reaction” (page unavailable), explains that a premature termination codon can trigger NMD and describes a criterion involving a downstream splicing event at least 50–55 nucleotides away. The review does not identify the two mutations in the citing sentence or establish that either meets that criterion, so it supports the mechanism but not its application to both mutations. (LLM, conf=0.88)

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Authors
Lejeune, F.
Affiliations
Centre National de la Recherche Scientifique (FR)
Corresponding author
Lejeune, Fabrice
ORCID
Lejeune, Fabrice
Venue
Biomedicines
Publisher
MDPI AG
Published
2022-01-10
Volume
10
Issue
1
Pages
141
ISSN
2227-9059 (ISSN-L)
DOI
10.3390/biomedicines10010141
PMC
PMC8773229
OpenAlex
W4206766185
Cited by
80
References
69
Citations by year
2026: 19 · 2025: 25 · 2024: 14 · 2023: 17 · 2022: 5
FWCI
1.59
Type
journal article
Language
en
Open access
Licence
Locations
  • Biomedicines (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • HAL (submittedVersion, other-oa)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • LillOA (Université de Lille (University Of Lille)) (submittedVersion, other-oa)
Funders
  • Ligue Contre le Cancer
  • Institut National Du Cancer (PLBIO21-147)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
Keywords
nonsense-mediated mRNA decay, premature stop codon, mRNA quality control, gene expression regulation, truncated protein, human cells

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