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Alessandro Esposito

Affiliated Researcher
Neuroscience and Smart Materials
Research center
Characterization of new genes involved in childhood epileptic encephalopathy. The aim of my project is to analyze the functional consequences of the novel pathogenic mutations in neuronal development and neurotransmission. During these years of experimental work, I have assessed the effect of many mutations on the stability of proteins, on organelles pH and their impact on neurodevelopment and synapse formation.

Title: Doctor of Philosophy (PhD) in “Neuroscience and Brain Technologies”
Institute: Italian Institute of Technology (IIT)
Location: Genoa
Country: Italy
From: 2016 To: 2019

Title: Master degree in Neurobiology
Institute: Sapienza University of Rome
Location: Rome
Country: Italy
From: 2010 To: 2014

Title: BCs in General and Applied Biology
Institute: Università di Napoli Federico II
Location: Naples
Country: Italy
From: 2006 To: 2010

All Publications
Fassio A., Falace A., Esposito A., Aprile D., Guerrini R., Benfenati F.
Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy
Frontiers in Cellular Neuroscience, vol. 14
Guerrini R., Parrini E., Esposito A., Fassio A., Conti V.
Lesional and non-lesional epilepsies: A blurring genetic boundary
European Journal of Paediatric Neurology, vol. 24, pp. 24-29
Review Journal
Esposito A., Falace A., Wagner M., Gal M., Mei D., Conti V., Pisano T., Aprile D., Cerullo M.S., De Fusco A., Giovedi S., Seibt A., Magen D., Polster T., Eran A., Stenton S.L., Fiorillo C., Ravid S., Mayatepek E., Hafner H., Wortmann S., Levanon E.Y., Marini C., Mandel H., Benfenati F., Distelmaier F., Fassio A., Guerrini R.
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
Brain, vol. 142, (no. 12), pp. 3876-3891
Article Journal
Fassio A., Esposito A., Kato M., Saitsu H., Mei D., Marini C., Conti V., Nakashima M., Okamoto N., Olmez Turker A., Albuz B., Semerci Gunduz C.N., Yanagihara K., Belmonte E., Maragliano L., Ramsey K., Balak C., Siniard A., Narayanan V., Ohba C., Shiina M., Ogata K., Matsumoto N., Benfenati F., Guerrini R.
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
Brain, vol. 141, (no. 6), pp. 1703-1718
Leo D., Sukhanov I., Zoratto F., Illiano P., Caffino L., Sanna F., Messa G., Emanuele M., Esposito A., Dorofeikova M., Budygin E.A., Mus L., Efimova E., Niello M., Espinoza S., Sotnikova T.D., Hoener M.C., Laviola G., Fumagalli F., Adriani W., Gainetdinov R.R.
Pronounced hyperactivity, cognitive dysfunctions, and BDNF dysregulation in dopamine transporter knock-out rats
Journal of Neuroscience, vol. 38, (no. 8), pp. 1959-1972