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 …

Expansion of the eukaryotic proteome by alternative splicing

TW Nilsen, BR Graveley - Nature, 2010 - nature.com
The collection of components required to carry out the intricate processes involved in
generating and maintaining a living, breathing and, sometimes, thinking organism is …

Evolution of SR protein and hnRNP splicing regulatory factors

A Busch, KJ Hertel - Wiley Interdisciplinary Reviews: RNA, 2012 - Wiley Online Library
The splicing of pre‐mRNAs is an essential step of gene expression in eukaryotes. Introns
are removed from split genes through the activities of the spliceosome, a large ribonuclear …

Deciphering RNA splicing logic with interpretable machine learning

SE Liao, M Sudarshan… - Proceedings of the …, 2023 - National Acad Sciences
Machine learning methods, particularly neural networks trained on large datasets, are
transforming how scientists approach scientific discovery and experimental design …

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies

A Dhir, E Buratti - The FEBS journal, 2010 - Wiley Online Library
What makes a nucleotide sequence an exon (or an intron) is a question that still lacks a
satisfactory answer. Indeed, most eukaryotic genes are full of sequences that look like …

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Z Fadaie, M Khan, M Del Pozo‐Valero… - Human …, 2019 - Wiley Online Library
Pathogenic variants in the ATP‐binding cassette transporter A4 (ABCA4) gene cause a
continuum of retinal disease phenotypes, including Stargardt disease. Noncanonical splice …

Tapping the potential of synthetic riboswitches: reviewing the versatility of the tetracycline aptamer

D Kelvin, B Suess - RNA biology, 2023 - Taylor & Francis
Synthetic riboswitches are a versatile class of regulatory elements that are becoming
increasingly established in synthetic biology applications. They are characterized by their …

Genomic HEXploring allows landscaping of novel potential splicing regulatory elements

S Erkelenz, S Theiss, M Otte, M Widera… - Nucleic acids …, 2014 - academic.oup.com
Effective splice site selection is critically controlled by flanking splicing regulatory elements
(SREs) that can enhance or repress splice site use. Although several computational …

[HTML][HTML] MYC regulates a pan-cancer network of co-expressed oncogenic splicing factors

L Urbanski, M Brugiolo, SH Park, BL Angarola… - Cell reports, 2022 - cell.com
MYC is dysregulated in> 50% of cancers, but direct targeting of MYC has been clinically
unsuccessful. Targeting downstream MYC effector pathways represents an attractive …

Introns and gene expression: cellular constraints, transcriptional regulation, and evolutionary consequences

P Heyn, AT Kalinka, P Tomancak, KM Neugebauer - Bioessays, 2015 - Wiley Online Library
A gene's “expression profile” denotes the number of transcripts present relative to all other
transcripts. The overall rate of transcript production is determined by transcription and RNA …