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 …

Alternative splicing: a pivotal step between eukaryotic transcription and translation

AR Kornblihtt, IE Schor, M Alló, G Dujardin… - … reviews Molecular cell …, 2013 - nature.com
Alternative splicing was discovered simultaneously with splicing over three decades ago.
Since then, an enormous body of evidence has demonstrated the prevalence of alternative …

RNA splicing and disease: animal models to therapies

M Montes, BL Sanford, DF Comiskey, DS Chandler - Trends in Genetics, 2019 - cell.com
Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …

Efficient, specific, and combinatorial control of endogenous exon splicing with dCasRx-RBM25

JD Li, M Taipale, BJ Blencowe - Molecular Cell, 2024 - cell.com
Efficient targeted control of splicing is a major goal of functional genomics and therapeutic
applications. Guide (g) RNA-directed, deactivated (d) Cas CRISPR enzymes fused to …

Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing

G Maule, A Casini, C Montagna, AS Ramalho… - Nature …, 2019 - nature.com
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR
gene. The 3272–26A> G and 3849+ 10kbC> T CFTR mutations alter the correct splicing of …

Targeting RNA splicing for disease therapy

MA Havens, DM Duelli… - Wiley Interdisciplinary …, 2013 - Wiley Online Library
Splicing of pre‐messenger RNA into mature messenger RNA is an essential step for the
expression of most genes in higher eukaryotes. Defects in this process typically affect …

The pathogenicity of splicing defects: mechanistic insights into pre‐mRNA processing inform novel therapeutic approaches

E Daguenet, G Dujardin, J Valcárcel - EMBO reports, 2015 - embopress.org
Removal of introns from pre‐mRNA precursors (pre‐mRNA splicing) is a necessary step for
the expression of most genes in multicellular organisms, and alternative patterns of intron …

SMN regulates axonal local translation via miR-183/mTOR pathway

MJ Kye, ED Niederst, MH Wertz… - Human molecular …, 2014 - academic.oup.com
Reduced expression of SMN protein causes spinal muscular atrophy (SMA), a
neurodegenerative disorder leading to motor neuron dysfunction and loss. However, the …

Exon‐independent recruitment of SRSF1 is mediated by U1 snRNP stem‐loop 3

AM Jobbins, S Campagne, R Weinmeister… - The EMBO …, 2022 - embopress.org
SRSF1 protein and U1 snRNPs are closely connected splicing factors. They both stimulate
exon inclusion, SRSF1 by binding to exonic splicing enhancer sequences (ESEs) and U1 …

[HTML][HTML] Molecular basis of cystic fibrosis: from bench to bedside

MC Dechecchi, A Tamanini… - Annals of translational …, 2018 - ncbi.nlm.nih.gov
Cystic fibrosis (CF), is an autosomal recessive disease affecting different organs. The lung
disease, characterized by recurrent and chronic bacterial infection and inflammation since …