Cameron Stockford
About
Research
Publications
2025
TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in amyotrophic lateral sclerosis and frontotemporal dementia
Arnold F, Cui Y, Michels S, Colwin M, Stockford C, Ye W, Jawahar V, Jansen-West K, Philippe J, Gulia R, Gou Y, Tam O, Menon S, Situ W, Cazarez S, Zandi A, Ehsani K, Howard S, Dickson D, Hammell M, Prudencio M, Petrucelli L, Li W, La Spada A. TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in amyotrophic lateral sclerosis and frontotemporal dementia. Journal Of Clinical Investigation 2025, 135: e182088. PMID: 40454469, PMCID: PMC12126230, DOI: 10.1172/jci182088.Peer-Reviewed Original ResearchConceptsPolyadenylation site selectionTDP-43TDP-43 dysregulationAggregation of TAR DNA-binding protein 43Amyotrophic lateral sclerosisFrontotemporal dementiaLoss of TDP-43TAR DNA-binding protein 43Dysregulation of splicingDNA-binding protein 43TDP-43 nuclear depletionTDP-43 dysfunctionAPA genesTau regulationTDP-43 alterationsRegulated polyadenylationRNA-seqNuclear depletionTranscriptomic datasetsCytoplasmic aggregatesALS/FTD pathogenesisNuclear clearancePolyadenylationSite selectionSubcellular distribution
2023
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity
Bennett C, Dastidar S, Arnold F, McKinstry S, Stockford C, Freibaum B, Sopher B, Wu M, Seidner G, Joiner W, Taylor J, West R, La Spada A. Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity. Acta Neuropathologica Communications 2023, 11: 164. PMID: 37845749, PMCID: PMC10580588, DOI: 10.1186/s40478-023-01665-z.Peer-Reviewed Original ResearchConceptsDipeptide repeatsFamilial amyotrophic lateral sclerosisAmyotrophic lateral sclerosisRNA-protein interactionsC9orf72 amyotrophic lateral sclerosisMobility of proteinsNuclear helicaseRNA-dependentDrosophila modelFly linesSenataxin functionFly modelCellular processesC9orf72 geneMembraneless organellesGenetic modifiersSenataxinMovement assayGenetic causeCo-expressionPrimary neuronsDisease phenotypeSporadic amyotrophic lateral sclerosisAge-related motor deficitsHEK293 cells