Article
Germline heterozygous mutations in Nxf1 perturb RNA metabolism and trigger thrombocytopenia and lymphopenia in mice.
Blood advances - 14 Apr 2020
Chappaz Stéphane, Law Charity W, Dowling Mark R, Carey Kirstyn T, Lane Rachael M, Ngo Linh H, Wickramasinghe Vihandha O, Smyth Gordon K, Ritchie Matthew E, Kile Benjamin T
Abstract excerpt
In eukaryotic cells, messenger RNA (mRNA) molecules are exported from the nucleus to the cytoplasm, where they are translated. The highly conserved protein nuclear RNA export factor1 (Nxf1) is an important mediator of this process. Although studies in yeast and in human cell lines have shed light on the biochemical mechanisms of Nxf1 function, its contribution to mammalian physiology is less clear. Several groups...
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