NPM1 functions in epitranscriptomics

2019 
A new study identifies germline NPM1 mutations in people with dyskeratosis congenita. These NPM1 mutations inhibit ribosomal RNA 2´-O-methylation by decreasing the binding of the rRNA methyltransferase FBL to small nucleolar RNAs. Thus, NPM1 influences ribosomal functions via epitranscriptomic regulation.
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