Dataset Information


Homo sapiens

ABSTRACT: Genome-wide consequences of compromised NMD and their relavence for variable clinical phenotype of patients with UPF3B mutations [RNA-seq]

ORGANISM(S): Homo sapiens  



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Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

Nguyen L S LS   Jolly L L   Shoubridge C C   Chan W K WK   Huang L L   Laumonnier F F   Raynaud M M   Hackett A A   Field M M   Rodriguez J J   Srivastava A K AK   Lee Y Y   Long R R   Addington A M AM   Rapoport J L JL   Suren S S   Hahn C N CN   Gamble J J   Wilkinson M F MF   Corbett M A MA   Gecz J J  

Molecular psychiatry 20111220 11

The nonsense-mediated mRNA decay (NMD) pathway was originally discovered by virtue of its ability to rapidly degrade aberrant mRNAs with premature termination codons. More recently, it was shown that NMD also directly regulates subsets of normal transcripts, suggesting that NMD has roles in normal biological processes. Indeed, several NMD factors have been shown to regulate neurological events (for example, neurogenesis and synaptic plasticity) in numerous vertebrate species. In man, mutations i  ...[more]

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