Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature Reviews Genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

[HTML][HTML] The role of alternative splicing in cancer: From oncogenesis to drug resistance

R Sciarrillo, A Wojtuszkiewicz, YG Assaraf… - Drug Resistance …, 2020 - Elsevier
Alternative splicing is a tightly regulated process whereby non-coding sequences of pre-
mRNA are removed and protein-coding segments are assembled in diverse combinations …

Spliceosome-targeted therapies trigger an antiviral immune response in triple-negative breast cancer

EA Bowling, JH Wang, F Gong, W Wu, NJ Neill, IS Kim… - Cell, 2021 - cell.com
Many oncogenic insults deregulate RNA splicing, often leading to hypersensitivity of tumors
to spliceosome-targeted therapies (STTs). However, the mechanisms by which STTs …

The molecular pathogenesis of chronic lymphocytic leukaemia

G Fabbri, R Dalla-Favera - Nature Reviews Cancer, 2016 - nature.com
Recent investigations have provided an increasingly complete picture of the genetic
landscape of chronic lymphocytic leukaemia (CLL). These analyses revealed that the CLL …

The rise of apoptosis: targeting apoptosis in hematologic malignancies

R Valentin, S Grabow, MS Davids - Blood, The Journal of the …, 2018 - ashpublications.org
Dysregulation of the B-cell leukemia/lymphoma-2 (BCL-2) family of proteins of the intrinsic
apoptotic pathway is fundamental to the pathophysiology of many hematologic …

Modulating splicing with small molecular inhibitors of the spliceosome

KA Effenberger, VK Urabe… - Wiley Interdisciplinary …, 2017 - Wiley Online Library
Small molecule inhibitors that target components of the spliceosome have great potential as
tools to probe splicing mechanism and dissect splicing regulatory networks in cells. These …

Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma

JD Hintzsche, NT Gorden, CM Amato, J Kim… - Melanoma …, 2017 - journals.lww.com
Mucosal melanomas are a rare subtype of melanoma, arising in mucosal tissues, which
have a very poor prognosis due to the lack of effective targeted therapies. This study aimed …

Impacts and mechanisms of alternative mRNA splicing in cancer metabolism, immune response, and therapeutics

Q Peng, Y Zhou, L Oyang, N Wu, Y Tang, M Su, X Luo… - Molecular Therapy, 2022 - cell.com
Alternative pre-mRNA splicing (AS) provides the potential to produce diversity at RNA and
protein levels. Disruptions in the regulation of pre-mRNA splicing can lead to diseases. With …

Dysregulation of the splicing machinery is directly associated to aggressiveness of prostate cancer

JM Jiménez-Vacas, V Herrero-Aguayo… - …, 2020 - thelancet.com
Background Dysregulation of splicing variants (SVs) expression has recently emerged as a
novel cancer hallmark. Although the generation of aberrant SVs (eg AR-v7/sst5TMD4/etc.) is …

Splicing factor gene mutations in hematologic malignancies

B Saez, MJ Walter, TA Graubert - Blood, The Journal of the …, 2017 - ashpublications.org
Alternative splicing generates a diversity of messenger RNA (mRNA) transcripts from a
single mRNA precursor and contributes to the complexity of our proteome. Splicing is …