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 …

The expanding world of tRNA modifications and their disease relevance

T Suzuki - Nature Reviews Molecular Cell Biology, 2021 - nature.com
Transfer RNA (tRNA) is an adapter molecule that links a specific codon in mRNA with its
corresponding amino acid during protein synthesis. tRNAs are enzymatically modified post …

RNA-binding proteins in human genetic disease

F Gebauer, T Schwarzl, J Valcárcel… - Nature Reviews …, 2021 - nature.com
RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their
malfunction underlies the origin of many diseases. RBPs can recognize hundreds of …

The nexus between RNA-binding proteins and their effectors

S He, E Valkov, S Cheloufi, J Murn - Nature Reviews Genetics, 2023 - nature.com
RNA-binding proteins (RBPs) regulate essentially every event in the lifetime of an RNA
molecule, from its production to its destruction. Whereas much has been learned about RNA …

Germline elongator mutations in sonic hedgehog medulloblastoma

SM Waszak, GW Robinson, BL Gudenas, KS Smith… - Nature, 2020 - nature.com
Cancer genomics has revealed many genes and core molecular processes that contribute to
human malignancies, but the genetic and molecular bases of many rare cancers remains …

Alternative splicing in neurogenesis and brain development

CH Su, WY Tarn - Frontiers in molecular biosciences, 2018 - frontiersin.org
Alternative splicing of precursor mRNA is an important mechanism that increases
transcriptomic and proteomic diversity and also post-transcriptionally regulates mRNA …

Matching tRNA modifications in humans to their known and predicted enzymes

V de Crécy-Lagard, P Boccaletto… - Nucleic acids …, 2019 - academic.oup.com
Abstract tRNA are post-transcriptionally modified by chemical modifications that affect all
aspects of tRNA biology. An increasing number of mutations underlying human genetic …

Splicing-factor alterations in cancers

O Anczuków, AR Krainer - Rna, 2016 - rnajournal.cshlp.org
Tumor-associated alterations in RNA splicing result either from mutations in splicing-
regulatory elements or changes in components of the splicing machinery. This review …

[HTML][HTML] Impact of tRNA modifications and tRNA-modifying enzymes on proteostasis and human disease

M Pereira, S Francisco, AS Varanda, M Santos… - International journal of …, 2018 - mdpi.com
Transfer RNAs (tRNAs) are key players of protein synthesis, as they decode the genetic
information organized in mRNA codons, translating them into the code of 20 amino acids. To …

Splicing modulators: on the way from nature to clinic

T Schneider-Poetsch, JK Chhipi-Shrestha… - The Journal of …, 2021 - nature.com
Over the course of more than two decades, natural products isolated from various
microorganisms and plants have built the foundation for chemical biology research into the …