2025
Alternative Splicing Alterations in Patients With Amyotrophic Lateral Sclerosis: Link to the Disruption of TAR DNA‐Binding Protein 43 kDa Functions
Miwa T, Takeuchi E, Ogawa K, Abdelhamid R, Morita J, Hiraki Y, Yasumizu Y, Nakamura Y, Ohkura N, Saito Y, Murayama S, Nagai Y, Mochizuki H, Nagano S. Alternative Splicing Alterations in Patients With Amyotrophic Lateral Sclerosis: Link to the Disruption of TAR DNA‐Binding Protein 43 kDa Functions. Neurology And Clinical Neuroscience 2025, 13: 187-194. DOI: 10.1111/ncn3.12880.Peer-Reviewed Original ResearchAlternative splicing alterationsAlternative splicingTDP-43Splicing changesSplicing alterationsAmyotrophic lateral sclerosis pathologyAmyotrophic lateral sclerosisDNA-binding proteinsDysregulation of alternative splicingTAR DNA-binding proteinAberrant alternative splicingTAR DNA-binding protein 43 kDaSH-SY5Y cellsRNA metabolismDNA-binding protein 43 kDaNovel genesSplicing patternsNeurons of patientsRNA sequencingSplicingLateral sclerosisMotor neuronsTreatment of amyotrophic lateral sclerosisPolymerase chain reaction analysisMotor neurons of patients
2018
SRSF2 mutations drive oncogenesis by activating a global program of aberrant alternative splicing in hematopoietic cells
Liang Y, Tebaldi T, Rejeski K, Joshi P, Stefani G, Taylor A, Song Y, Vasic R, Maziarz J, Balasubramanian K, Ardasheva A, Ding A, Quattrone A, Halene S. SRSF2 mutations drive oncogenesis by activating a global program of aberrant alternative splicing in hematopoietic cells. Leukemia 2018, 32: 2659-2671. PMID: 29858584, PMCID: PMC6274620, DOI: 10.1038/s41375-018-0152-7.Peer-Reviewed Original ResearchConceptsSplicing factorsRNA processingAlternative splicingGene productsSplicing factor SRSF2Gene regulatory eventsAberrant alternative splicingSplice alterationsRecurrent mutationsSplicing proteinsHITS-CLIPSR familyMRNA splicingSplicing genesHematopoietic differentiationRegulatory eventsImpairs hematopoietic differentiationMolecular explanationWidespread modificationSplicingHematopoietic cellsMutationsBinding eventsOncogenesisProtein
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