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Therapeutic Targeting of Alternative Splicing: A New Frontier in Cancer Treatment
The ability for cells to harness alternative splicing enables them to diversify their proteome in order to carry out complex biological functions and adapt to external and internal stimuli. The spliceosome is the multiprotein-RNA complex charged with the
Anthony J. Murphy +3 more
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Aberrant RNA splicing and therapeutic opportunities in cancers [PDF]
AbstractThere has been accumulating evidence that RNA splicing is frequently dysregulated in a variety of cancers and that hotspot mutations affecting key splicing factors, SF3B1, SRSF2 and U2AF1, are commonly enriched across cancers, strongly suggesting that aberrant RNA splicing is a new class of hallmark that contributes to the initiation and/or ...
Hirofumi Yamauchi +2 more
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Background Long-read sequencing of full-length cDNAs enables the detection of structures of aberrant splicing isoforms in cancer cells. These isoforms are occasionally translated, presented by HLA molecules, and recognized as neoantigens. This study used
Miho Oka +11 more
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The aberrant splicing of BAF45d links splicing regulation and transcription in glioblastoma [PDF]
Glioblastoma, the most aggressive primary brain tumor, is genetically heterogeneous. Alternative splicing (AS) plays a key role in numerous pathologies, including cancer. The objectives of our study were to determine whether aberrant AS could play a role in the malignant phenotype of glioma and to understand the mechanism underlying its aberrant ...
Aldave G +26 more
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Alternative splicing in breast cancer
Alternative splicing allows a gene to produce multiple proteins and is the main source of human proteome diversity. Aberrant regulation of alternative splicing produces proteins with different structures and can lead to altered protein function ...
Xin Wen, Ze Yan, Li Sha
doaj +1 more source
Retroviral Splicing Suppressor Sequesters a 3′ Splice Site in a 50S Aberrant Splicing Complex [PDF]
Retroviral replication requires both spliced and unspliced mRNAs. Splicing suppression of avian retroviral RNA depends in part upon a cis-acting element within the gag gene called the negative regulator of splicing (NRS). The NRS, linked to a downstream intron and exon (NRS-Ad3'), was not capable of splicing in vitro.
Keith E, Giles, Karen L, Beemon
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Silent disruption: aberrant splicing in VWD [PDF]
In this issue of Blood, Yadegari et al1 report in a patient with type 1 von Willebrand disease (VWD) a novel synonymous von Willebrand factor (VWF) genetic variant and aberrant VWF splicing mechanism leading to VWF mRNA intron retention. The index patient presented with mucosal and provoked bleeding and low VWF level (VWF:Ag) and activity (VWF:GPIb) of
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Aberrant Bcl-x splicing in cancer: from molecular mechanism to therapeutic modulation
Bcl-x pre-mRNA splicing serves as a typical example to study the impact of alternative splicing in the modulation of cell death. Dysregulation of Bcl-x apoptotic isoforms caused by precarious equilibrium splicing is implicated in genesis and development ...
Zhihui Dou +10 more
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Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease
Alternative splicing (AS) is a complex coordinated transcriptional regulatory mechanism. It affects nearly 95% of all protein-coding genes and occurs in nearly all human organs.
Pingping Ren +17 more
doaj +1 more source
Aberrant Alternative Splicing Events in Parkinson's Disease [PDF]
Alternative splicing (AS) using a sole gene to express multiple transcripts with diverse protein coding sequences and/or RNA regulatory elements raises genomic complexities. In the nervous system, several thousand AS events play important roles in ion transportation, receptor recognition, neurotransmission, memory, and learning.
Ru-Huei Fu +10 more
openaire +3 more sources

