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Publications: 83 results for "splicing"
Comprehensive RNA-binding protein analyses and deep learning uncover genetic constraints and disease associations in protein-RNA interfaces.
Cell systems · 2026 : 101588

RNA-binding proteins (RBPs) orchestrate post-transcriptional processes, including splicing, cleavage and polyadenylation, and translation. Our updated RBP resource integrates data from 92 additional RBPs (286 in total) profiled by enhanced CLIP (eCLIP), enabling comprehensive characterization of RNA elements within human K562 …

42025161
DOI
Single-cell and isoform-specific translational profiling of the mouse brain.
Nature · 2026

The brain displays the richest repertoire of post-transcriptional mechanisms regulating mRNA translation<sup>1-11</sup>. Among these, alternative splicing has been shown to drive cell-type specificity and, when disrupted, is strongly linked to neurological disorders<sup>12-17</sup>. However, genome-wide measurements of mRNA translation with isoform …

41708856
DOI
Integrative CRISPR Screening and RNA Analyses Discover an Essential Role for PUF60 Interactions with 3' Splice Sites in Cancer Progression.
Cancer research · 2025

RNA-binding proteins (RBPs) are important regulators of post-transcriptional gene expression. Understanding which and how RBPs promote cancer progression is crucial for cancers that lack effective targeted therapies, such as triple negative breast cancer (TNBC). Here, we employed both in vitro …

41411621
DOI
Dual-targeting snRNA gene therapy rescues STMN2 and UNC13A splicing in TDP-43 proteinopathies.
bioRxiv : the preprint server for biology · 2025

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder caused by the selective deterioration of motor neurons in the central nervous system (CNS). A key driver of this pathogenesis is nuclear loss of ALS-associated protein TDP-43, leading to mis-splicing of TDP-43 …

41573891
DOI
Dosage-sensitive <i>RBFOX2</i> autoregulation promotes cardiomyocyte differentiation by maturing the transcriptome.
bioRxiv : the preprint server for biology · 2025

Haploinsufficiency of the RNA splicing regulator, <i>RBFOX2</i> , is linked to congenital heart disease (CHD), yet its pathogenic mechanisms remain unclear. Here, we demonstrate that RBFOX2 is essential for progressing cardiomyocyte (CM) differentiation by shifting exon usage profiles to more …

41280054
DOI
A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies.
bioRxiv : the preprint server for biology · 2025

Variants in ion channel genes are common causes of pediatric epilepsy, often leading to intractable seizures, developmental delay and other comorbidities, which increases risk of death. Pathogenic variants in the <i>SCN8A</i> gene, which encodes a voltage-gated sodium channel critical for …

41278710
DOI
Enhancing RNA base editing on mammalian transcripts with small nuclear RNAs.
Nature chemical biology · 2025

Endogenous uridine-rich small nuclear RNAs (U snRNAs) form RNA-protein complexes to process eukaryotic pre-mRNA into mRNA. Previous studies have demonstrated programmable U snRNA guide-targeted exon inclusion and exclusion. Here we investigated whether snRNAs can also enhance RNA base editing over …

40968292
DOI
Neuronal aging causes mislocalization of splicing proteins and unchecked cellular stress.
Nature neuroscience · 2025 · 28(6) : 1174-1184

Aging is one of the most prominent risk factors for neurodegeneration, yet the molecular mechanisms underlying the deterioration of old neurons are mostly unknown. To efficiently study neurodegeneration in the context of aging, we transdifferentiated primary human fibroblasts from aged …

40456907
DOI
Integrative CRISPR Screens and RNA-Omics Discover an Essential Role for PUF60-3' Splice Site Interactions in Cancer Progression.
bioRxiv : the preprint server for biology · 2025

RNA-binding proteins (RBPs) are important regulators of post-transcriptional gene expression. Understanding which and how RBPs promote cancer progression is crucial for cancers that lack effective targeted therapies such as triple negative breast cancer (TNBC). Here, we employ both <i>in vitro</i> …

40655003
DOI
Phenylpyrazoles as Inhibitors of the m<sup>6</sup>A RNA-Binding Protein YTHDF2.
JACS Au · 2025 · 5(2) : 618-630

The <i>N</i>6-methyladenosine (m<sup>6</sup>A) modification, which is the most common RNA modification in eukaryotes, is regulated by the "writer" methyltransferases, the "reader" m<sup>6</sup>A binding proteins, and the "eraser" demethylases. m<sup>6</sup>A plays a multifunctional role in physiological and pathological processes, regulating all …

40017738
DOI
Strategies for programmable manipulation of alternative splicing.
Current opinion in genetics & development · 2024 · 89 : 102272

Alternative splicing (AS) plays a pivotal role in protein diversity and mRNA maturation. Programmable control of targeted AS events is of longstanding interest in RNA biology, promising correction of dysregulated splicing in disease and discovery of AS events. This review …

39471777
DOI
Steering research on mRNA splicing in cancer towards clinical translation.
Nature reviews. Cancer · 2024 · 24(12) : 887-905

Splicing factors are affected by recurrent somatic mutations and copy number variations in several types of haematologic and solid malignancies, which is often seen as prima facie evidence that splicing aberrations can drive cancer initiation and progression. However, numerous spliceosome …

39384951
DOI
Inhibition of RNA splicing triggers CHMP7 nuclear entry, impacting TDP-43 function and leading to the onset of ALS cellular phenotypes.
Neuron · 2024 · 112(24) : 4033-4047.e8

Amyotrophic lateral sclerosis (ALS) is linked to the reduction of certain nucleoporins in neurons. Increased nuclear localization of charged multivesicular body protein 7 (CHMP7), a protein involved in nuclear pore surveillance, has been identified as a key factor damaging nuclear …

39486415
DOI
Large-scale map of RNA-binding protein interactomes across the mRNA life cycle.
Molecular cell · 2024 · 84(19) : 3790-3809.e8

mRNAs interact with RNA-binding proteins (RBPs) throughout their processing and maturation. While efforts have assigned RBPs to RNA substrates, less exploration has leveraged protein-protein interactions (PPIs) to study proteins in mRNA life-cycle stages. We generated an RNA-aware, RBP-centric PPI map …

39303721
DOI
Integrated multi-omics analysis of zinc-finger proteins uncovers roles in RNA regulation.
Molecular cell · 2024 · 84(19) : 3826-3842.e8

RNA interactome studies have revealed that hundreds of zinc-finger proteins (ZFPs) are candidate RNA-binding proteins (RBPs), yet their RNA substrates and functional significance remain largely uncharacterized. Here, we present a systematic multi-omics analysis of the DNA- and RNA-binding targets and …

39303722
DOI
Large-scale evaluation of the ability of RNA-binding proteins to activate exon inclusion.
Nature biotechnology · 2024 · 42(9) : 1429-1441

RNA-binding proteins (RBPs) modulate alternative splicing outcomes to determine isoform expression and cellular survival. To identify RBPs that directly drive alternative exon inclusion, we developed tethered function luciferase-based splicing reporters that provide rapid, scalable and robust readouts of exon inclusion …

38168984
DOI
Mudskipper detects combinatorial RNA binding protein interactions in multiplexed CLIP data.
Cell genomics · 2024 · 4(7) : 100603

The uncovering of protein-RNA interactions enables a deeper understanding of RNA processing. Recent multiplexed crosslinking and immunoprecipitation (CLIP) technologies such as antibody-barcoded eCLIP (ABC) dramatically increase the throughput of mapping RNA binding protein (RBP) binding sites. However, multiplex CLIP datasets …

38955188
DOI
Small nuclear RNAs enhance protein-free RNA-programmable base conversion on mammalian coding transcripts.
bioRxiv : the preprint server for biology · 2024

Endogenous U small nuclear RNAs (U snRNAs) form RNA-protein complexes responsible for eukaryotic processing of pre-mRNA into mature mRNA. Previous studies have demonstrated the utility of guide-programmable U snRNAs in targeted exon inclusion and exclusion. We investigated whether snRNAs can …

38915553
DOI
ePRINT: exonuclease assisted mapping of protein-RNA interactions.
Genome biology · 2024 · 25(1) : 140

RNA-binding proteins (RBPs) regulate key aspects of RNA processing including alternative splicing, mRNA degradation and localization by physically binding RNA molecules. Current methods to map these interactions, such as CLIP, rely on purifying single proteins at a time. Our new …

38807229
DOI
Remodeling oncogenic transcriptomes by small molecules targeting NONO.
Nature chemical biology · 2023 · 19(7) : 825-836

Much of the human proteome is involved in mRNA homeostasis, but most RNA-binding proteins lack chemical probes. Here we identify electrophilic small molecules that rapidly and stereoselectively decrease the expression of transcripts encoding the androgen receptor and its splice variants …

36864190
DOI
In Vivo Screening Unveils Pervasive RNA-Binding Protein Dependencies in Leukemic Stem Cells and Identifies ELAVL1 as a Therapeutic Target.
Blood cancer discovery · 2023 · 4(3) : 180-207

Acute myeloid leukemia (AML) is fueled by leukemic stem cells (LSC) whose determinants are challenging to discern from hematopoietic stem cells (HSC) or uncover by approaches focused on general cell properties. We have identified a set of RNA-binding proteins (RBP) …

36763002
DOI
Splicing factor SRSF1 deficiency in the liver triggers NASH-like pathology and cell death.
Nature communications · 2023 · 14(1) : 551

Regulation of RNA processing contributes profoundly to tissue development and physiology. Here, we report that serine-arginine-rich splicing factor 1 (SRSF1) is essential for hepatocyte function and survival. Although SRSF1 is mainly known for its many roles in mRNA metabolism, it …

36759613
DOI
Metadensity: a background-aware python pipeline for summarizing CLIP signals on various transcriptomic sites.
Bioinformatics advances · 2022 · 2(1) : vbac083

Cross-linking and immunoprecipitation (CLIP) is a technology to map the binding sites of RNA-binding proteins (RBPs). The region where an RBP binds within RNA is often indicative of its molecular function in RNA processing. As an example, the binding sites …

36388152
DOI
Engineered U1 snRNAs to modulate alternatively spliced exons.
Methods (San Diego, Calif.) · 2022 · 205 : 140-148

Alternative splicing accounts for a considerable portion of transcriptomic diversity, as most protein-coding genes are spliced into multiple mRNA isoforms. However, errors in splicing patterns can give rise to mis-splicing with pathological consequences, such as the congenital diseases familial dysautonomia, …

35764245
DOI
Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis.
Acta neuropathologica · 2022 · 144(3) : 413-435

Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by aberrant alternative splicing (AS). Nuclear loss and cytoplasmic accumulation of the splicing factor TDP-43 in motor neurons (MN) are hallmarks of ALS at late stages of the disease. However, it …

35778567
DOI
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Datasets: 25+ results
GSE315406 GSE GEO

Comprehensive RNA-binding protein analyses using enhanced CLIP (ENCORE) [dataset2]

GPL20301, GPL24676, GPL34284
GSE315347 GSE GEO

Comprehensive RNA-binding protein analyses using enhanced CLIP (ENCORE) [dataset1]

GPL20301, GPL24676
GSE314059 GSE GEO

Single-cell and isoform-specific translational profiling of the mouse brain with long-read sequencing [scRNA-Seq, longread]

GPL34585
GSE314058 GSE GEO

Single-cell and isoform-specific translational profiling of the mouse brain [scRNA-seq]

GPL34475
GSE313324 GSE GEO

PUF60-Mediated Splicing Is a Key Driver of Triple Negative Breast Cancer [CRISPR]

GPL24676
GSE280898 GSE GEO

PUF60-Mediated Splicing Is a Key Driver of Triple Negative Breast Cancer [eCLIP]

GPL24676
GSE280897 GSE GEO

PUF60-Mediated Splicing Is a Key Driver of Triple Negative Breast Cancer [RNA-seq]

GPL24676
GSE152033 GSE GEO

RNA-targeting Cas9 corrects molecular and physiological features in pre-clinical model of myotonic dystrophy type 1

Mus musculus · GPL21103
GSE114922 GSE GEO

RNA sequencing of bone marrow CD34+ hematopoietic stem and progenitor cells from patients with myelodysplastic syndrome and healthy controls

Homo sapiens · GPL20301
GSE63816 GSE GEO

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome

Homo sapiens · GPL11154
GSE65973 GSE GEO

RNA sequencing of mice expressing NLS-hTDP-43

Mus musculus · GPL9250
GSE56504 GSE GEO

Loss of nuclear TDP-43 in ALS causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurons

Mus musculus · GPL5188
GSE18920 GSE GEO

Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biology

Homo sapiens · GPL5188
GSE147005 GSE GEO

Loss of canonical splicing factor SRSF1 in hepatocytes results in acute liver injury and regeneration

Mus musculus · GPL21103
GSE179634 GSE GEO

Splicing Factor SRSF1 Deficiency in the Liver Triggers NASH-like Pathology via R-Loop Induced DNA Damage and Cell Death

Mus musculus · GPL21103
GSE127944 GSE GEO

In vivo CRISPR screening unveils RNA binding protein dependencies for leukemic stem cells and identifies ELAVL1 as a potential therapeutic target [eCLIPseq]

Mus musculus · GPL21103
GSE127743 GSE GEO

In vivo CRISPR screening unveils RNA binding protein dependencies for leukemic stem cells and identifies ELAVL1 as a potential therapeutic target [RNA-seq]

Mus musculus · GPL18480
GSE266924 GSE GEO

Exonuclease assisted mapping of protein-RNA interactions (ePRINT)

Homo sapiens · GPL30173
GSE50178 GSE GEO

Identification of FUS RNA targets in HeLa cells

Homo sapiens · GPL9115
GSE230097 GSE GEO

Exonuclease assisted mapping of protein-RNA interactions (ePRINT)

Homo sapiens · GPL24676
GSE240014 GSE GEO

An in situ method for identification of transcriptome-wide protein-RNA interactions in cells [in_situ_STAMP]

Mus musculus · GPL24247
GSE240521 GSE GEO

An in situ method for identification of transcriptome-wide protein-RNA interactions in cells [eCLIP-seq ]

Mus musculus · GPL21103
GSE263371 GSE GEO

An in situ method for identification of transcriptome-wide protein-RNA interactions in cells [isSTAMP]

Mus musculus · GPL30172
GSE276986 GSE GEO

Aging-linked deterioration of RNA metabolism destabilizes the stress response of neurons [RNA-seq]

Homo sapiens · GPL24676
GSE276985 GSE GEO

Aging-linked deterioration of RNA metabolism destabilizes the stress response of neurons [eCLIP-seq]

Mus musculus · GPL24676
Showing first 25 dataset results.
Analyses: 25+ results
GSE276985 Processing Pipeline
GSE276985
2 steps · RIP-Seq · code_examples

Neuronal aging causes mislocalization of splicing proteins and unchecked cellular stress. (2025)

GSE276986 Processing Pipeline
GSE276986
1 step · RNA-Seq · code_examples

Neuronal aging causes mislocalization of splicing proteins and unchecked cellular stress. (2025)

GSE277082 Processing Pipeline
GSE277082
2 steps · RNA-Seq · code_examples

Neuronal aging causes mislocalization of splicing proteins and unchecked cellular stress. (2025)

GSE280897 RNA-seq Data Processing
GSE280897
6 steps · RNA-seq · geo_data_processing

Integrative CRISPR Screening and RNA Analyses Discover an Essential Role for PUF60 Interactions with 3' Splice Sites in Cancer Progression. (2025)

GSE280898 eCLIP Data Processing
GSE280898
5 steps · eCLIP · geo_data_processing

Integrative CRISPR Screening and RNA Analyses Discover an Essential Role for PUF60 Interactions with 3' Splice Sites in Cancer Progression. (2025)

GSE280899 Processing Pipeline
GSE280899
6 steps · GSE · code_examples

Integrative CRISPR Screening and RNA Analyses Discover an Essential Role for PUF60 Interactions with 3' Splice Sites in Cancer Progression. (2025)

GSE313324 Data Processing
GSE313324
2 steps · geo_data_processing

Integrative CRISPR Screening and RNA Analyses Discover an Essential Role for PUF60 Interactions with 3' Splice Sites in Cancer Progression. (2025)

GSE232597 Processing Pipeline
GSE232597
5 steps · RIP-Seq · code_examples

Large-scale evaluation of the ability of RNA-binding proteins to activate exon inclusion. (2024)

GSE232598 Processing Pipeline
GSE232598
6 steps · RNA-Seq · code_examples

Large-scale evaluation of the ability of RNA-binding proteins to activate exon inclusion. (2024)

GSE232599 Processing Pipeline
GSE232599
5 steps · GSE · code_examples

Large-scale evaluation of the ability of RNA-binding proteins to activate exon inclusion. (2024)

GSE25421 Processing Pipeline
GSE25421
1 step · GSE · code_examples

Inhibition of RNA splicing triggers CHMP7 nuclear entry, impacting TDP-43 function and leading to the onset of ALS cellular phenotypes. (2024)

GSE147005 Processing Pipeline
GSE147005
4 steps · RNA-Seq · code_examples

Splicing factor SRSF1 deficiency in the liver triggers NASH-like pathology and cell death. (2023)

GSE179634 Processing Pipeline
GSE179634
32 steps · RIP-Seq · code_examples

Splicing factor SRSF1 deficiency in the liver triggers NASH-like pathology and cell death. (2023)

GSE114922 Processing Pipeline
GSE114922
7 steps · RNA-Seq · code_examples

Integrative RNA-omics Discovers GNAS Alternative Splicing as a Phenotypic Driver of Splicing Factor-Mutant Neoplasms. (2022)

GSE121569 Processing Pipeline
GSE121569
12 steps · RNA-Seq · code_examples

Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. (2022)

GSE122069 Processing Pipeline
GSE122069
2 steps · RNA-Seq · code_examples

Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. (2022)

GSE122649 Processing Pipeline
GSE122649
3 steps · RNA-Seq · code_examples

Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. (2022)

GSE123613 Processing Pipeline
GSE123613
9 steps · OTHER · code_examples

Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing. (2022)

GSE124439 Processing Pipeline
GSE124439
2 steps · RNA-Seq · code_examples

Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. (2022)

GSE13204 Processing Pipeline
GSE13204
4 steps · GSE · code_examples

The splicing factor RBM17 drives leukemic stem cell maintenance by evading nonsense-mediated decay of pro-leukemic factors. (2022)

GSE164666 Processing Pipeline
GSE164666
4 steps · OTHER · code_examples

Integrative RNA-omics Discovers GNAS Alternative Splicing as a Phenotypic Driver of Splicing Factor-Mutant Neoplasms. (2022)

GSE180955 Processing Pipeline
GSE180955
5 steps · RIP-Seq · code_examples

The splicing factor RBM17 drives leukemic stem cell maintenance by evading nonsense-mediated decay of pro-leukemic factors. (2022)

GSE18920 Processing Pipeline
GSE18920
4 steps · GSE · code_examples

Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. (2022)

GSE35008 Processing Pipeline
GSE35008
2 steps · GSE · code_examples

The splicing factor RBM17 drives leukemic stem cell maintenance by evading nonsense-mediated decay of pro-leukemic factors. (2022)

GSE42519 Processing Pipeline
GSE42519
1 step · GSE · code_examples

The splicing factor RBM17 drives leukemic stem cell maintenance by evading nonsense-mediated decay of pro-leukemic factors. (2022)

Showing first 25 analysis results.