Molecular Oncology, 2021 Hot spot gene mutations in splicing factor 3b subunit 1 (SF3B1) are observed in many types of cancer and create abundant aberrant mRNA splicing, which is profoundly implicated in tumorigenesis.
Shu-Heng Jiang +2 more
exaly +2 more sources
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
doaj +2 more sources
U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing
Cells, 2020 Splicing factor 3b subunit 1 (SF3B1) is an essential protein in spliceosomes and mutated frequently in many cancers. While roles of SF3B1 in single intron splicing and roles of its cancer-linked mutant in aberrant splicing have been identified to some ...
Xuexiu Zheng +2 more
exaly +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Frontiers in OncologyIntroductionChronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS) with ring sideroblasts (RS) or SF3B1 mutation (MDS-RS/SF3B1) differ in many clinical features, but share others, such as anemia.
Marina Díaz-Beyá +2 more
exaly +3 more sources
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
doaj +2 more sources
Silencing SF3B1 promotes apoptosis and inhibits proliferation and invasion of human lung cancer cell line A549 [PDF]
Jichu yixue yu linchuang, 2023 Objective To explore the effect of splicing factor 3B subunit (SF3B1) on apoptosis, proliferation and invasion of human lung cancer cells. Methods Non-small cell lung cancer(NSCLC) patients in the General Hospital of Western Theater Command PLA from ...
ZHANG Xiaowan, KANG Xia, YAO Xiaoying, XIE Fang, LI Ying
doaj +1 more source
Pre-mRNA splicing-associated diseases and therapies
RNA Biology, 2023 Precursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome.
Sierra L. Love +3 more
doaj +1 more source
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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