2019
Pleiotropic requirements for human TDP-43 in the regulation of cell and organelle homeostasis
Roczniak-Ferguson A, Ferguson SM. Pleiotropic requirements for human TDP-43 in the regulation of cell and organelle homeostasis. Life Science Alliance 2019, 2: e201900358. PMID: 31527135, PMCID: PMC6749094, DOI: 10.26508/lsa.201900358.Peer-Reviewed Original ResearchConceptsMultiple amyotrophic lateral sclerosisTDP-43 target genesNormal TDP-43 functionSpecific target transcriptsCell biological consequencesRNA-binding proteinTDP-43Disease-causing mutantsRegulation of cellPleiotropic requirementMultiple neurodegenerative diseasesOrganelle homeostasisTarget transcriptsMRNA splicingKnockout cellsTranscriptomic analysisMultiple organellesTDP-43 functionTarget genesCytoplasmic aggregatesNuclear envelopeTDP-43 mutationsTDP-43 depletionHuman TDP-43Morphological defects
2016
C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling
Amick J, Roczniak-Ferguson A, Ferguson SM. C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling. Molecular Biology Of The Cell 2016, 27: 3040-3051. PMID: 27559131, PMCID: PMC5063613, DOI: 10.1091/mbc.e16-01-0003.Peer-Reviewed Original ResearchConceptsAmino acid availabilityAcid availabilityGenome-editing strategiesKO cell linesProtein complexesSubcellular localizationKnockout phenotypesC9orf72 proteinLysosomal siteBioinformatics predictionSMCR8Tumor suppressorSwollen lysosomesFunctional interactionLysosomesC9orf72 geneCell linesStructural similarityNormal functionC9orf72PhenotypeAmyotrophic lateral sclerosisBirt-HoggIntronsMTORC1
2012
The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis
Roczniak-Ferguson A, Petit CS, Froehlich F, Qian S, Ky J, Angarola B, Walther TC, Ferguson SM. The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis. Science Signaling 2012, 5: ra42. PMID: 22692423, PMCID: PMC3437338, DOI: 10.1126/scisignal.2002790.Peer-Reviewed Original ResearchMeSH Keywords14-3-3 ProteinsAnalysis of VarianceBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsElectrophoretic Mobility Shift AssayGene Expression RegulationHeLa CellsHomeostasisHumansLysosomesMechanistic Target of Rapamycin Complex 1Microphthalmia-Associated Transcription FactorMicroscopy, ConfocalMultiprotein ComplexesMutationPhosphorylationProteinsSignal TransductionTOR Serine-Threonine KinasesConceptsMTOR-dependent phosphorylationLysosomal functionTranscription factor MITFRapamycin complex 1Transcription factor TFEBMajor cellular siteTarget of mTORTranslocation of TFEBDefective organellesTranscriptional regulationCellular needsCellular homeostasisTranscriptional controlLysosome homeostasisLysosome biogenesisTranscription factorsLysosomal biogenesisPhysiological contextRegulatory mechanismsLysosome functionMechanistic targetTFEBCellular sitesLysosomal activityBiogenesis