The spliceosome, a potential Achilles heel of MYC-driven tumors [PDF]
, 2015 Alterations in RNA splicing are frequent in human tumors. Two recent studies of lymphoma and breast cancer have identified components of the spliceosome - the core splicing machinery - that are essential for malignant transformation driven by the ...
Anczukow, O., Krainer, A. R.
core +1 more source
Genetic depletion indicates a late role for U5 snRNP during in vitro spliceosome assembly [PDF]
Nucleic Acids Research, 1991 The pre-mRNA splicing pathway is highly conserved from yeast (S. cerevisiae) to mammals. Of the four snRNPs involved in splicing three (U1, U2 and U4/U6) have been shown to be essential for in vitro splicing. To examine the remaining snRNP, we utilized our previously described genetic procedures (Seraphin and Rosbash, 1989) to prepare yeast extracts ...
B, Séraphin, N, Abovich, M, Rosbash
openaire +2 more sources
EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways
Advanced Science, Volume 12, Issue 32, August 28, 2025.EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen +12 more
wiley +1 more source
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa [PDF]
, 2017 Proteins PRPF31, PRPF3 and PRPF8 (RP-PRPFs) are ubiquitously expressed components of the spliceosome, a macromolecular complex that processes nearly all pre-mRNAs.
Abou Elela, Sherif +7 more
core
RNA Processing: Wilms' tumour — the splicing connection? [PDF]
, 1995 Major isoforms of WT1 — products of the tumour suppressor gene WT1, implicated in predisposition to Wilms' tumour — may preferentially interact with splicing factors, suggesting a role for WT1 in RNA ...
Cunill, Julio +2 more
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U1‐70K and U1A and tau pathogenesis in demented and non‐demented individuals with Down syndrome
Alzheimer's &Dementia, Volume 21, Issue 8, August 2025.Abstract INTRODUCTION Splicing protein mislocalization is associated with tau pathogenesis, but its role in Down syndrome (DS) is under‐investigated. METHODS Spliceosome associations with tau and plaque pathology were examined in frontal cortex from DS with dementia (DSD+) and without dementia (DSD−) using quantitative immunoblotting and ...
Sylvia E. Perez +6 more
wiley +1 more source
RNA Epigenetics in Cancer: Current Knowledge and Therapeutic Implications
MedComm, Volume 6, Issue 8, August 2025.RNA epigenetics regulates cancer through RNA modifications, splicing, transport, and translation. Key components include m⁶A writers, splicing factors, RBPs, and nuclear export machinery. Aberrant RNA metabolism drives tumor progression and immune evasion.
Shanhe Huang +4 more
wiley +1 more source
WRAP53 Unwrapped; Roles in Nuclear Architecture and Cancer [PDF]
, 2011 WRAP53 is a gene of multiple functions; it encodes for a natural antisense transcript that regulates the actions of the tumour suppressor p53, and it gives rise to a protein with oncogenic properties that is important for Cajal body formation and ...
Mahmoudi, Salah
core +1 more source
A Phase‐Separated SR Protein Reprograms Host Pre‐mRNA Splicing to Enhance Disease Susceptibility
Advanced Science, Volume 12, Issue 27, July 17, 2025.This study identifies SR30, a splicing factor, as a negative regulator of tomato immunity. During Phytophthora infestans infection, the elevated SR30 forms nuclear condensates to suppress the alternative splicing (AS) of defense‐related genes in a phase separation manner.
Dong Yan +11 more
wiley +1 more source
Nuclear Condensates Of Wac Regulate Mitophagy Through Alternative Splicing
International Dental JournalAim or purpose: The present study aimed to investigate the nuclear condensates formation ability of Desanto-Shinawi syndrome (DESSH) related protein-WW domain-containing adaptor with coiled-coil (WAC) and related biological function.
Jiahe Wang, Chenchen Zhou
doaj +1 more source