Concepedia

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens,

Nature Genetics · 2007 · 294 citations · 22 references

Open access

Concepts

Life SciencesGeneticsMolecular GeneticsGene ExpressionDevelopmental MutationsGenetic DisordersNeurodevelopmental DisordersNonsense-mediated DecayProtein SynthesisUntranslated RegionsNonsense-mediated Decay Coupled SplicingNonsense-mediated Decay Of Noncoding RnaNonsense-mediated Mrna DecayNonsense-mediated Rna Decay CleavageUpf3 Function

References

22

A routine method for the establishment of permanent growing lymphoblastoid cell lines

Heidemarie Neitzel · Human Genetics · 1986 · 647 citations

Life Sciences, Cell Biology, Molecular Biology +13

Human Upf Proteins Target an mRNA for Nonsense-Mediated Decay When Bound Downstream of a Termination Codon

Jens Lykke‐Andersen, Mei-Di Shu, Joan A. Steitz · Cell · 2000 · 582 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Exon-Junction Complex Components Specify Distinct Routes of Nonsense-Mediated mRNA Decay with Differential Cofactor Requirements

Niels H. Gehring, Joachim B. Kunz, Gabriele Neu‐Yilik et al. · Molecular Cell · 2005 · 330 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +13

Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability

Susan M. Medghalchi · Human Molecular Genetics · 2001 · 309 citations

Life Sciences, Developmental Biology, Molecular Biology +17

Role of the Nonsense-Mediated Decay Factor hUpf3 in the Splicing-Dependent Exon-Exon Junction Complex

V. Narry Kim, Naoyuki Kataoka, Gideon Dreyfuss · Science · 2001 · 295 citations

Life Sciences, Genetics, Molecular Biology +17