Spinal muscular atrophy

E Mercuri, CJ Sumner, F Muntoni, BT Darras… - Nature Reviews …, 2022 - nature.com
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

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 …

Nuclear compartmentalization as a mechanism of quantitative control of gene expression

P Bhat, D Honson, M Guttman - Nature Reviews Molecular Cell Biology, 2021 - nature.com
Gene regulation requires the dynamic coordination of hundreds of regulatory factors at
precise genomic and RNA targets. Although many regulatory factors have specific affinity for …

RNA splicing by the spliceosome

ME Wilkinson, C Charenton… - Annual review of …, 2020 - annualreviews.org
The spliceosome removes introns from messenger RNA precursors (pre-mRNA). Decades
of biochemistry and genetics combined with recent structural studies of the spliceosome …

Organization and regulation of gene transcription

P Cramer - Nature, 2019 - nature.com
The regulated transcription of genes determines cell identity and function. Recent structural
studies have elucidated mechanisms that govern the regulation of transcription by RNA …

[HTML][HTML] RNA promotes the formation of spatial compartments in the nucleus

SA Quinodoz, JW Jachowicz, P Bhat, N Ollikainen… - Cell, 2021 - cell.com
RNA, DNA, and protein molecules are highly organized within three-dimensional (3D)
structures in the nucleus. Although RNA has been proposed to play a role in nuclear …

Pol II phosphorylation regulates a switch between transcriptional and splicing condensates

YE Guo, JC Manteiga, JE Henninger, BR Sabari… - Nature, 2019 - nature.com
The synthesis of pre-mRNA by RNA polymerase II (Pol II) involves the formation of a
transcription initiation complex, and a transition to an elongation complex,,–. The large …

[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 …

[HTML][HTML] Splice site m6A methylation prevents binding of U2AF35 to inhibit RNA splicing

M Mendel, K Delaney, RR Pandey, KM Chen… - Cell, 2021 - cell.com
Summary The N 6-methyladenosine (m 6 A) RNA modification is used widely to alter the fate
of mRNAs. Here we demonstrate that the C. elegans writer METT-10 (the ortholog of mouse …

Born to run: control of transcription elongation by RNA polymerase II

FX Chen, ER Smith, A Shilatifard - Nature reviews Molecular cell …, 2018 - nature.com
The dynamic regulation of transcription elongation by RNA polymerase II (Pol II) is an
integral part of the implementation of gene expression programmes during development. In …