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The overarching goal of our scientific work has been to define key molecular pathways in the pathogenesis of neurodegeneration and to uncover novel targets for therapeutic development. We have focused on pathogenic mechanisms that are commonly altered in neurodegenerative disorders such as deficient degradation of aggregation-prone proteins and mitochondrial dysfunction. As a general strategy, we study rare genetic diseases with mutations in genes that play a role in these key mechanisms and pathways. Models of Huntington’s, Parkinson’s and Gaucher’s disease have been utilized to examine if activation of cellular degradation pathways can lead to neuroprotection. To validate and study these findings in human neurons, we utilize induced pluripotent stem cells (iPS) generated by reprogramming of patient-specific skin fibroblasts. These iPS cells are differentiated into specific neuronal subtypes in order to characterize the interplay of genetic, epigenetic and environmental factors in disease pathogenesis. The ultimate goal of these studies is to develop targeted therapies for Parkinson’s and related neurodegenerative disorders.
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Journal of Parkinson's Diseasepp.1-10, (2024)
ANNALS OF NEUROLOGY (2024)
Robert Coukos,Dimitri Krainc
Journal of Parkinson's disease (2024)
ANNALS OF NEUROLOGY (2024)
JOURNAL OF CELL BIOLOGYno. 5 (2024)
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