Alternative splicing of mRNA in the molecular pathology of neurodegenerative diseases.
paper
Cited
Public
Unavailable
- Authors
- Mills, James Dominic; Janitz, Michal
- Year
- 2012
- Journal
- Neurobiology of aging
- PMID
- 22118946
- DOI
- 10.1016/j.neurobiolaging.2011.10.030
Alternative splicing (AS) is a post-transcriptional process that occurs in multiexon genes, and errors in this process have been implicated in many human diseases. Until recently, technological limitations prevented AS from being examined at the genome-wide scale. With the advent of new technologies, including exon arrays and next-generation sequencing (NGS) techniques (e.g., RNA-Seq), a higher resolution view of the human transcriptome is now available. This is particularly applicable in the study of neurodegenerative brain diseases (NBDs), such as Alzheimer's disease and Parkinson's disease, because the brain has the greatest amount of alternative splicing of all human tissues. Although many of the AS events associated with these disorders were initially identified using low-throughput methodologies, genome-wide analysis allows for more in-depth studies, marking a new chapter in transcript exploration. In this review, the latest technologies used to study the transcriptome and the AS genes that have been associated with a number of neurodegenerative brain diseases are discussed.
No figures extracted from this document.
No chunks β full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| RNA alternative splicing impacts the risk for alcohol use disorder. | 2023 | 37217680 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Decoding Alzheimer's Disease: Single-Cell Sequencing Uncovers Brain Cell Heterogeneity and Pathogenesis. | Ma YN et al. | β | 2025 | β |
| OpenSpliceAI provides an efficient modular implementation of SpliceAI enabling easy retraining across nonhuman species. | Chao KH et al. | β | 2025 | β |
| Retinal alterations resemble brain pathology in a rat model of Parkinson's disease induced by intranigral infusion of Ξ±-synuclein oligomers. | Burgaletto C et al. | β | 2025 | β |
| The interplay between epitranscriptomic RNA modifications and neurodegenerative disorders: Mechanistic insights and potential therapeutic strategies. | Hashmi MATS et al. | β | 2024 | β |
| Cooperative and competitive regulation of the astrocytic transcriptome by neurons and endothelial cells: Impact on astrocyte maturation. | Martinez-Lozada Z et al. | β | 2023 | β |
| Crosstalk between alternative splicing and inflammatory bowel disease: Basic mechanisms, biotechnological progresses and future perspectives. | Zou C et al. | β | 2023 | β |
| RNA alternative splicing impacts the risk for alcohol use disorder. | Li R et al. | β | 2023 | β |
| RNA-binding protein signaling in adult neurogenesis. | Chan JN et al. | β | 2022 | β |
| Alternative Splicing and Hypoxia Puzzle in Alzheimer's and Parkinson's Diseases. | JakubauskienΔ E et al. | β | 2021 | β |
| Alternative splicing in aging and Alzheimer's disease: Highlighting the role of tau and estrogen receptor Ξ± isoforms in the hypothalamus. | Ishunina TA | β | 2021 | β |
| Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease. | Titus MB et al. | β | 2021 | β |
| Full-length transcript sequencing of human and mouse cerebral cortex identifies widespread isoform diversity and alternative splicing. | Leung SK et al. | β | 2021 | β |
| Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies. | Li D et al. | β | 2021 | β |
| Presenilin 1 mutation likely contributes to U1 small nuclear RNA dysregulation and Alzheimer's disease-like symptoms. | Cheng Z et al. | β | 2021 | β |
| RNA Modifications and RNA Metabolism in Neurological Disease Pathogenesis. | Chatterjee B et al. | β | 2021 | β |
| Temporal Dynamic Methods for Bulk RNA-Seq Time Series Data. | Oh VS et al. | β | 2021 | β |
| The conserved alternative splicing factor caper regulates neuromuscular phenotypes during development and aging. | Titus MB et al. | β | 2021 | β |
| The mechanism of degradationΒ of alizarin red by a white-rot fungus Trametes gibbosa. | Zhang J et al. | β | 2021 | β |
| A compound downregulation of SRRM2 and miR-27a-3p with upregulation of miR-27b-3p in PBMCs of Parkinson's patients is associated with the early stage onset of disease. | Fazeli S et al. | β | 2020 | β |
| CPEB3 regulates neuron-specific alternative splicing and involves neurogenesis gene expression. | Qu W et al. | β | 2020 | β |
| Immune and Inflammatory Pathways Implicated by Whole Blood Transcriptomic Analysis in a Diverse Ancestry Alzheimer's Disease Cohort. | Griswold AJ et al. | β | 2020 | β |
| Progress in the molecular pathogenesis and nucleic acid therapeutics for Parkinson's disease in the precision medicine era. | Li D et al. | β | 2020 | β |
| Translational changes induced by acute sleep deprivation uncovered by TRAP-Seq. | Lyons LC et al. | β | 2020 | β |
| Age- and Nicotine-Associated Gene Expression Changes in the Hippocampus of APP/PS1 Mice. | Yang J et al. | β | 2019 | β |
| A high-throughput screen identifies small molecule modulators of alternative splicing by targeting RNA G-quadruplexes. | Zhang J et al. | β | 2019 | β |
| Physiological and pathophysiological characteristics of ataxin-3 isoforms. | WeishΓ€upl D et al. | β | 2019 | β |
| Upgraded Methodology for the Development of Early Diagnosis of Parkinson's Disease Based on Searching Blood Markers in Patients and Experimental Models. | Kim A et al. | β | 2019 | β |
| A high-throughput screen identifies small molecule modulators of alternative splicing by targeting RNA G-quadruplexes | Zhang J et al. | β | 2018 | β |
| <i>Drosophila</i> as a Model for Assessing the Function of RNA-Binding Proteins during Neurogenesis and Neurological Disease. | Olesnicky EC et al. | β | 2018 | β |
| Re-exploring the core genes and modules in the human frontal cortex during chronological aging: insights from network-based analysis of transcriptomic studies. | Xu M et al. | β | 2018 | β |
| Understanding Alzheimer Disease at the Interface between Genetics and Transcriptomics. | Verheijen J et al. | β | 2018 | β |
| Whole transcriptome profiling of Late-Onset Alzheimer's Disease patients provides insights into the molecular changes involved in the disease. | Annese A et al. | β | 2018 | β |
| Alternative splicing: the pledge, the turn, and the prestige : The key role of alternative splicing in human biological systems. | Gallego-Paez LM et al. | β | 2017 | β |
| Developing new targeting strategy for androgen receptor variants in castration resistant prostate cancer. | Wang B et al. | β | 2017 | β |
| Overexpression of U1 snRNA induces decrease of U1 spliceosome function associated with Alzheimer's disease. | Cheng Z et al. | β | 2017 | β |
| Recent trends in the transdermal delivery of therapeutic agents used for the management of neurodegenerative diseases. | Ita K | β | 2017 | β |
| Standardization procedure for plasma biomarker analysis in rat models of epileptogenesis: Focus on circulating microRNAs. | van Vliet EA et al. | β | 2017 | β |
| Systematic review and meta-analysis of differentially expressed miRNAs in experimental and human temporal lobe epilepsy. | Korotkov A et al. | β | 2017 | β |
| Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease. | Kunkle BW et al. | β | 2017 | β |
| U6 snRNA expression prevents toxicity in TDP-43-knockdown cells. | Yahara M et al. | β | 2017 | β |
| Alzheimer's as a Systems-Level Disease Involving the Interplay of Multiple Cellular Networks. | Castrillo JI et al. | β | 2016 | β |
| RNA-Sequencing to Elucidate Early Patterns of Dysregulation Underlying the Onset of Alzheimer's Disease. | Chen BJ et al. | β | 2016 | β |
| Role of codon usage and tRNA changes in rat cytomegalovirus latency and (re)activation. | Kanduc D | β | 2016 | β |
| Systems Biology of Alzheimer's Disease. Preface. | Castrillo JI et al. | β | 2016 | β |
| Towards improved genome-scale metabolic network reconstructions: unification, transcript specificity and beyond. | Pfau T et al. | β | 2016 | β |
| Microglia recapitulate a hematopoietic master regulator network inΒ the aging human frontal cortex. | Wehrspaun CC et al. | β | 2015 | β |
| RNA-binding proteins in neurodegeneration: Seq and you shall receive. | Nussbacher JK et al. | β | 2015 | β |
| Role of transcriptional control in multiple system atrophy. | Chen J et al. | β | 2015 | β |
| Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions. | Singh NN et al. | β | 2015 | β |
| Transcriptome analysis of grey and white matter cortical tissue in multiple system atrophy. | Mills JD et al. | β | 2015 | β |
| Aggregates of small nuclear ribonucleic acids (snRNAs) in Alzheimer's disease. | Hales CM et al. | β | 2014 | β |
| Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy. | Caillet-Boudin ML et al. | β | 2014 | β |
| Categorizer: a tool to categorize genes into user-defined biological groups based on semantic similarity. | Na D et al. | β | 2014 | β |
| cdc-like/dual-specificity tyrosine phosphorylation-regulated kinases inhibitor leucettine L41 induces mTOR-dependent autophagy: implication for Alzheimer's disease. | Fant X et al. | β | 2014 | β |
| Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases. | Siva K et al. | β | 2014 | β |
| Increasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene. | La Cognata V et al. | β | 2014 | β |
| Introducing protein intrinsic disorder. | Habchi J et al. | β | 2014 | β |
| Severe hypoxia exerts parallel and cell-specific regulation of gene expression and alternative splicing in human mesenchymal stem cells. | Hu X et al. | β | 2014 | β |
| The central role of noncoding RNA in the brain. | Guennewig B et al. | β | 2014 | β |
| U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21. | Hales CM et al. | β | 2014 | β |
| Wrecked regulation of intrinsically disordered proteins in diseases: pathogenicity of deregulated regulators. | Uversky VN | β | 2014 | β |
| Altered expression of RNA splicing proteins in Alzheimer's disease patients: evidence from two microarray studies. | Wong J | β | 2013 | β |
| Alternative splicing for diseases, cancers, drugs, and databases. | Tang JY et al. | β | 2013 | β |
| An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy. | Singh NN et al. | β | 2013 | β |
| Genes, behavior and next-generation RNA sequencing. | Hitzemann R et al. | β | 2013 | β |
| Neuronal AChE splice variants and their non-hydrolytic functions: redefining a target of AChE inhibitors? | Zimmermann M | β | 2013 | β |
| Pathway analysis of the human brain transcriptome in disease. | Kavanagh T et al. | β | 2013 | β |
| RNA-Seq analysis of the parietal cortex in Alzheimer's disease reveals alternatively spliced isoforms related to lipid metabolism. | Mills JD et al. | β | 2013 | β |
| Strand-Specific RNA-Seq Provides Greater Resolution of Transcriptome Profiling. | Mills JD et al. | β | 2013 | β |
| Targeting RNA binding proteins involved in neurodegeneration. | Romano M et al. | β | 2013 | β |
| U1 small nuclear ribonucleoprotein complex and RNA splicing alterations in Alzheimer's disease. | Bai B et al. | β | 2013 | β |
| Alternative Splicing of a Novel Inducible Exon Diversifies the CASK Guanylate Kinase Domain. | Dembowski JA et al. | β | 2012 | β |
| Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases. | Southwell AL et al. | β | 2012 | β |
| Hypoxia-induced alternative splicing in endothelial cells. | Weigand JE et al. | β | 2012 | β |
| The Murine PSE/TATA-dependent transcriptome: evidence of functional homologies with its human counterpart. | Bruzzone MJ et al. | β | 2012 | β |