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Type II tRNA cleavage by SLFN14 endoribonuclease variants linked to inherited thrombocytopenia drives global translational repression

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This is an uncorrected proof. Figures Abstract Schlafens proteins (SLFNs) are interferon-inducible regulators of RNA metabolism that influence antiviral defense and cell fate. Human SLFN14 is a ribosome-associated endoribonuclease whose pathogenic variants cause autosomal dominant inherited thrombocytopenia (IT), but the molecular basis of this disorder remains unclear. Here, using HEK293T cells e...
The study sheds light on the molecular mechanism underlying the stronger translational block caused by IT-linked SLFN14 variants associated with a rare inherited bleeding disorder known as platelet type-II deficiency. The findings could have significant implications for understanding the pathophysiology of the disease and potentially lead to the development of novel therapeutic strategies. The study adds to our understanding of the molecular basis of this rare inherited bleeding disorder, which ...