Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects
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 …
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …
Alternative splicing: a pivotal step between eukaryotic transcription and translation
Alternative splicing was discovered simultaneously with splicing over three decades ago.
Since then, an enormous body of evidence has demonstrated the prevalence of alternative …
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 …
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
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 …
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 …
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 …
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 …
the expression of most genes in multicellular organisms, and alternative patterns of intron …
SMN regulates axonal local translation via miR-183/mTOR pathway
Reduced expression of SMN protein causes spinal muscular atrophy (SMA), a
neurodegenerative disorder leading to motor neuron dysfunction and loss. However, the …
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 …
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 …
disease, characterized by recurrent and chronic bacterial infection and inflammation since …