Results 11 to 20 of about 9,852 (179)
Phosphorylation of SF3B1 by CDK11 orchestrates spliceosome activation via SNIP1-dependent RES complex recruitment [PDF]
Nature CommunicationsSplicing Factor 3b Subunit 1 (SF3B1), a core component of the spliceosome, undergoes dynamic phosphorylation and dephosphorylation during the splicing cycle to regulate pre-mRNA splicing. Twenty-eight threonine/proline repeats are phosphorylated by CDK11
Pavla Gajdušková +14 more
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Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3’ splice sites [PDF]
RNA BiologySF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Austin Herbert +5 more
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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders [PDF]
Nature CommunicationsSF3B1 is an essential and ubiquitous splicing factor that plays a pivotal role in the early steps of pre-mRNA splicing. Recurrent somatic missense mutations in SF3B1 are frequent in cancers, but no constitutional variant has been reported so far.
Kevin Uguen +66 more
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Cancer-associated SF3B1 mutation suppresses DNA repair by disrupting the organization of nuclear actin network [PDF]
Cell Death and DiseaseNuclear actin filament is required for efficient repair of DNA double-strand breaks. While cancer-associated SF3B1 mutation leads to impaired DNA repair, the underlying mechanism remains elusive.
Rui Qian +8 more
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Somatic SF3B1 hotspot mutation in prolactinomas [PDF]
Nature Communications, 2020 AbstractThe genetic basis and corresponding clinical relevance of prolactinomas remain poorly understood. Here, we perform whole genome sequencing (WGS) on 21 patients with prolactinomas to detect somatic mutations and then validate the mutations with digital polymerase chain reaction (PCR) analysis of tissue samples from 227 prolactinomas. We identify
Chuzhong Li +24 more
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SF3B1 mutation–mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia
Life Science Alliance, 2023 Understanding the pathogenic mechanisms of SF3B1 mutation can help unravel their contribution in patients’ worse prognosis. The cytotoxic effects and delayed leukemic infiltration induced by H3B-8800 support the potential use of SF3B1 inhibitors as a ...
Irene López-Oreja +12 more
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Computational and Structural Biotechnology Journal, 2021 The hotspot mutations of SF3B1, the most frequently mutated splicing gene in cancers, contribute to oncogenesis by corrupting the mRNA splicing. Further SF3B1 mutations have been reported in cancers but their consequences remain unclear.
Christine Canbezdi +7 more
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Mutant SF3B1 promotes malignancy in PDAC
eLife, 2023 The splicing factor SF3B1 is recurrently mutated in various tumors, including pancreatic ductal adenocarcinoma (PDAC). The impact of the hotspot mutation SF3B1 K700E on the PDAC pathogenesis, however, remains elusive. Here, we demonstrate that Sf3b1 K700E
Simmler, Patrik +12 more
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The Effect of SF3B1 Mutation on the DNA Damage Response and Nonsense-Mediated mRNA Decay in Cancer
Frontiers in Oncology, 2021 Recurrent mutations in splicing factor 3B subunit 1 (SF3B1) have been identified in several malignancies and are associated with an increased expression of 3’ cryptic transcripts as a result of alternative branchpoint recognition.
Alexander C. Leeksma +25 more
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SF3B1 mutations in chronic lymphocytic leukemia [PDF]
Blood, 2013 Abstract SF3B1 is a critical component of the splicing machinery, which catalyzes the removal of introns from precursor messenger RNA (mRNA). Next-generation sequencing studies have identified mutations in SF3B1 in chronic lymphocytic leukemia (CLL) at high frequency.
Youzhong, Wan, Catherine J, Wu
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