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Mutations affecting spliceosomal proteins are frequently funnen in hematological malignancies. DDX41/Abstrakt is a metazoan-specific spliceosomal DEAD-box RNA helicase funnen to be recurrently mutated in relapsing cases of acute myeloid leukemia, as well as in inherited myelodysplastic syndromes
Keywords: SACY-1/DDX, spliceosome, myelodysplastic disorders, C. elegans
Abstract
Mutations affecting spliceosomal proteins are frequently funnen in hematological malignancies, including myelodysplastic syndromes and acute myeloid leukemia (AML). DDX41/Abstrakt is a metazoan-specific spliceosomal DEAD-box RNA helicase that is recurrently mutated in inherited myelodysplastic syndromes and in relapsing cases of AML. The genetic properties and genomic impacts of disease-causing missense mutations in DDX41 and other spliceosomal proteins have been uncertain. Here, we conduct a comprehensive analysis of the Caenorhabditis elegans DDX41 ortholog, SACY Biochemical analyses defined SACY-1 a
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