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Title: Molecular features underlying neurodegeneration identified through in vitro modeling of genetically diverse parkinson’s disease patients
Authors: Lin, Lin
Göke, Jonathan
Cukuroglu, Engin
Dranias, Mark R.
VanDongen, Antonius M.J.
Stanton, Lawrence W.
Keywords: DRNTU::Science::Biological sciences
Alternative RNA Splicing
Issue Date: 2016
Source: Lin, L., Göke, J., Cukuroglu, E., Dranias, M., VanDongen, A., & Stanton, L. (2016). Molecular Features Underlying Neurodegeneration Identified through In Vitro Modeling of Genetically Diverse Parkinson’s Disease Patients. Cell Reports, 15(11), 2411-2426. doi:10.1016/j.celrep.2016.05.022
Series/Report no.: Cell Reports
Abstract: The fact that Parkinson’s disease (PD) can arise from numerous genetic mutations suggests a unifying molecular pathology underlying the various genetic backgrounds. To address this hypothesis, we took an integrated approach utilizing in vitro disease modeling and comprehensive transcriptome profiling to advance our understanding of PD progression and the concordant downstream signaling pathways across divergent genetic predispositions. To model PD in vitro, we generated neurons harboring disease-causing mutations from patient-specific, induced pluripotent stem cells (iPSCs). We observed signs of degeneration in midbrain dopaminergic neurons, reflecting the cardinal feature of PD. Gene expression signatures of PD neurons provided molecular insights into disease phenotypes observed in vitro, including oxidative stress vulnerability and altered neuronal activity. Notably, PD neurons show that elevated RBFOX1, a gene previously linked to neurodevelopmental diseases, underlies a pattern of alternative RNA-processing associated with PD-specific phenotypes.
ISSN: 2211-1247
DOI: 10.1016/j.celrep.2016.05.022
Rights: © 2016 The Author(s). This is an open access article under the CC BY license (
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:SBS Journal Articles

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