Scientific Personnel

Brief Bio

Dr. Stefanis obtained his MD from the University of Athens Medical School in 1987.  He subsequently obtained his PhD from the same University in 1992, with work related to the molecular basis of thalassemia.  In 1991, he moved to the US, where he trained as Resident in Neurology at Columbia University in New York.  In 1995, he embarked on a post-doctoral fellowship in the laboratory of Dr. Lloyd Greene, in the Dept. of Pathology, while in parallel he completed a two-year fellowship on Neurobehaviour, in the Dept. of Neurology at Columbia University.  His work during this time centered on mechanisms of neuronal cell death. In 1998 he was appointed Assistant Professor of Neurology in the Center for Neurodegenerative Diseases in the Dept. of Neurology at Columbia University, position which he held up till 2003.  During this time, he focused his interest more on the pathogenesis of neurodegenerative disorders, with an emphasis on Parkinson’s Disease (PD). In 2003 he moved back to Greece as Researcher Level B at the Biomedical Research Foundation of the Academy of Athens (BRFAA), and set up a laboratory focusing on mechanisms of neurodegeneration, in particular in relation to protein degradation systems, alpha-synuclein and PD.  In 2006 he assumed the appointment of Associate Professor in the University of Athens Medical School, while he continued his work at BRFAA as an affiliated investigator.  In 2012 he was appointed Director of the Second Department of Neurology at «Attikon» Hospital and was elected to the position of Professor of Neurology and Neurobiology at the University of Athens Medical School. Currently, Dr. Stefanis is investigating various areas of PD pathogenesis, ranging from the bench to the bedside.  He is examining the genetic underpinnings of the disease in the Greek population, not only in the rare familial, but also in sporadic cases. He is involved in studies that aim to examine the utility of using alpha-synuclein as a disease biomarker.  He is examining pathways of neurotoxicity induced by aberrant alpha-synuclein, with an emphasis on the involvement of protein degradation pathways, such as Chaperone-Mediated Autophagy.  He is also investigating the molecular underpinnings of the link of other genetic alterations linked to PD, such as those in UCH-L1, LRRK2 and GBA. He is using a wide array of approaches, ranging from cellular and animal models to studies of patients’ biological material.

Selected Publications

Bozi M, Papadimitriou D, Antonellou R, Moraitou M, Maniati M, Vassilatis DK, Papageorgiou SG, Leonardos A, Tagaris G, Malamis G, Theofilopoulos D, Kamakari S, Stamboulis E, Hadjigeorgiou GM, Athanassiadou A, Michelakakis H, Papadimitriou A, Gasser T, Stefanis L (2014) Genetic assessment of familial and early-onset Parkinson's disease in a Greek population. Eur J Neurol. [Epub ahead of print]

Xilouri M, Brekk OR, Landeck N, Pitychoutis PM, Papasilekas T, Papadopoulou-Daifoti Z, Kirik D, Stefanis L (2013) Boosting chaperone-mediated autophagy in vivo mitigates α-synuclein-induced neurodegeneration. Brain 136:2130-46

Xilouri M, Kyratzi E, Pitychoutis PM, Papadopoulou-Daifoti Z, Perier C, Vila M, Maniati M, Ulusoy A, Kirik D, Park DS, Wada K, Stefanis L (2012) Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system. Hum Mol Genet. 21(4):874-89

Vekrellis K, Xilouri M, Emmanouilidou E, Rideout HJ, Stefanis L (2011) Pathological roles of α-synuclein in neurological disorders. Lancet Neurol. 10(11):1015-25

Sotiriou E, Vassilatis DK, Vila M, Stefanis L (2010) Selective noradrenergic vulnerability in alpha-synuclein transgenic mice.  Neurobiol Aging 31(6):953-968

Xilouri M, Vogiatzi T, Vekrellis K, Park D, Stefanis L (2009) “Abberant alpha-synuclein confers toxicity to neurons in part through inhibition of chaperone-mediated autophagy” PLoS ONE 4(5):e5515

Vogiatzi T, Xilouri M, Vekrellis K, Stefanis L (2008) “Wild type a-synuclein is degraded by chaperone mediated autophagy and macroautophagy in neuronal cells” J Biol Chem 283(35):23542-56

Kyratzi E, Pavlaki M, Stefanis L (2008) “The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells” Hum Mol Genetics 17(14):2160-71.

Clough RL, Stefanis L (2007) “A novel pathway for transcriptional regulation of alpha-synuclein” FASEB J 21(2):596-607

Cuervo AM, Stefanis L, Fredenburg R, Lansbury PT, Sulzer D   (2004) “Impaired Degradation of Mutant Alpha-Synuclein by Chaperone-mediated Autophagy” Science 305(5688): 1292-1295

Rideout HJ, Lang-Rollin I, Stefanis L (2004) “Involvement of macroautophagy in the dissolution of neuronal inclusions” Int J Biochem Cell Biol 36: 2551-2562

Stefanis L, Larsen KE, Rideout HJ,Sulzer D, Greene LA (2001) "Expression of A53T Mutant But Not Wild-Type a-Synuclein in PC12 Cells Induces Alterations of the Ubiquitin-Dependent Degradation System, Loss of Dopamine Release, and Autophagic Cell Death" J Neurosci 21: 9549-9560

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