Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins.

doi:10.1038/nm.4097

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Article

Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins.

Nature medicine - 1 Jun 2016

Lee Stanley Chun-Wei, Dvinge Heidi, Kim Eunhee, Cho Hana, Micol Jean-Baptiste, Chung Young Rock, Durham Benjamin H, Yoshimi Akihide, Kim Young Joon, Thomas Michael, Lobry Camille, Chen Chun-Wei, Pastore Alessandro, Taylor Justin, Wang Xujun, Krivtsov Andrei, Armstrong Scott A, Palacino James, Buonamici Silvia, Smith Peter G, Bradley Robert K, Abdel-Wahab Omar

Abstract excerpt

Mutations in genes encoding splicing factors (which we refer to as spliceosomal genes) are commonly found in patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). These mutations recurrently affect specific amino acid residues, leading to perturbed normal splice site and exon recognition. Spliceosomal gene mutations are always heterozygous and rarely occur together with one another,...

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PMID: 27135740
DOI: 10.1038/nm.4097
PMCID: PMC4899191

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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