Mar 1, 2023 · We demonstrate that NPM1c directly regulates oncogenic gene expression in collaboration with the MLL1 complex and define the mechanism by which MLL1-Menin small-molecule inhibitors produce clinical responses in patients with NPM1-mutated AML.

Oct 8, 2020 · NPM1 mutations represent the most common genetic lesion in adult acute myeloid leukemia (AML; about one third of cases), and they act deterministically to cause the aberrant cytoplasmic delocalization of NPM1 mutants.

NPM1 is associated with nucleolar ribonucleoprotein structures and binds single-stranded and double-stranded nucleic acids, but it binds preferentially G-quadruplex forming nucleic acids. It is involved in the biogenesis of ribosomes and may assist small basic proteins in their transport to …

Mar 1, 2023 · We demonstrate that NPM1c directly regulates oncogenic gene expression in collaboration with the MLL1 complex and define the mechanism by which MLL1–Menin small-molecule inhibitors produce clinical responses in patients with NPM1 -mutated AML.

Dec 17, 2024 · NPM1 is mutated in about 30–35% of adult acute myeloid leukemia (AML). Due to its unique biological and clinical features, NPM1 -mutated AML is regarded as a distinct leukemia entity in the...

Cytoplasmic NPM1 (NPM1c) is only detected in AML with the NPM1 -mutated gene (NPM1c), and there are no NPM1 mutations with NPM1 remaining in the nucleolus. NPM1 mutations are exclusively heterozygous, which implies that NPM1c is able to form a dimer with wild-type NPM1, recruit it to the cytoplasm and perturb its normal function [31].

We describe genetic abnormalities, the clinical significance of exon-12 mutations in the NPM1 gene, and chromosomal translocations including the recently discovered NPM1-TYK2, and NPM1-HAUS1. Also, we outline the possible therapeutic interventions for the treatment of AML by targeting NPM1.

NPM1 is the most frequently mutated gene in cytogenetically normal acute myeloid leukemia (AML). In AML cells, NPM1 mutations result in abnormal cytoplasmic localization of the mutant protein (NPM1c), however it is unknown whether NPM1c is required ...

Mar 1, 2023 · NPM1c sustains the active transcription of key target genes by orchestrating a transcription hub and maintains the active chromatin landscape by inhibiting the activity of histone deacetylases.

Dec 12, 2019 · We hypothesized that mislocalization of CTCF into the cytoplasm by NPM1c reduces the functional level of nuclear CTCF and so alters gene expression. We verified the interaction of CTCF with NPM1...