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Anna Fassio

Affiliated Researcher
external collaborator


Largo Rosanna Benzi 10
+39 010 5558 447


Associate Professor in Physiology at the School of Medicine University of Genoa, Italy. My research activity deals with synaptic physiology and is aimed at understanding the molecular mechanisms of neurotransmitter release and synaptic vesicle trafficking. More recently, the involvement of synaptic genes in neuronal development and synaptic formation and stability took place in my research. A particular focus is on the pathophysiology of neurological and psychiatric diseases associated with mutations in synaptic genes using in vitro and in vivo models with a combination of experimental techniques ranging from molecular and cellular biology, morphological and functional imaging and electrophysiology. Synapsins, TBC1D24 and members of the vacuolar-ATPase complex are the gene products currently under investigation.


synaptic physiology and synaptopathies


7,COOPERATION 2013: DESIRE (Development and Epilepsy Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy). Grant Agreement 602531. Responsable for task 6.3 WP 6

Selected Publications


1.       Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M,Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group,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. 2018 Apr 13. doi: 10.1093/brain/awy092. [Epub ahead of print]


2.       Fruscione F, Valente P, Sterlini B, Romei A, Baldassari S, Fadda M, Prestigio C, Giansante G, Sartorelli J, Rossi P, Rubio A, Gambardella A, Nieus T, Broccoli V, Fassio A, Baldelli P, Corradi A, Zara F, Benfenati F. PRRT2 controls neuronal excitability by negatively modulating Na+channel 1.2/1.6 activity. Brain. 2018 Apr 1;141(4):1000-1016. doi: 10.1093/brain/awy051.


3.       Piccini A, Castroflorio E, Valente P, Guarnieri FC, Aprile D, Michetti C, Bramini M, Giansante G, Pinto B, Savardi A, Cesca F, Bachi A, Cattaneo A, Wren JD, Fassio A, Valtorta F, Benfenati F, Giovedì S. APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development. Cell Rep. 2017 21(12):3596-3611. doi: 10.1016/j.celrep.2017.11.073.


4.       Chiacchiaretta M, Latifi S, Bramini M, Fadda M, Fassio A, Benfenati F, Cesca F. Neuronal hyperactivity causes Na(+)/H(+) exchanger-induced extracellular acidification at active synapses. J Cell Sci. 2017 Apr 15;130(8):1435-1449. doi: 10.1242/jcs.198564. Epub 2017 Mar 2. PubMed PMID: 28254883.


5.       Lozano R, Herman K, Rothfuss M, Rieger H, Bayrak-Toydemir P, Aprile D, Fruscione F, Zara F, Fassio A. Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. Am J Med Genet A. 2016 Aug 19. doi: 10.1002/ajmg.


6.       Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology. 2016 87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.


7.       Fassio A, Fadda M, Benfenati F. Molecular Machines Determining the Fate of Endocytosed Synaptic Vesicles in Nerve Terminals. Front Synaptic Neurosci. 2016 May 12;8:10. doi: 10.3389/fnsyn.2016.00010. eCollection 2016. Review.


8.       Valente P, Castroflorio E, Rossi P, Fadda M, Sterlini B, Cervigni RI, Prestigio C, Giovedì S, Onofri F, Mura E, Guarnieri FC, Marte A, Orlando M, Zara F, Fassio A, Valtorta F, Baldelli P, Corradi A, Benfenati F. PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery. Cell Rep. 2016 Apr 5;15(1):117-31. doi: 10.1016/j.celrep.2016.03.005. Epub 2016 Mar 24.


9.       Tagliatti E, Fadda M, Falace A, Benfenati F, Fassio A. Arf6 regulates the cycling and the       readily releasable pool of synaptic vesicles at hippocampal synapse. 2016 eLife. 2016 Jan 5;5. pii: e10116. doi: 10.7554/eLife.10116. [Epub ahead of print]


10.   Orlando M, Lignani G, Maragliano L, Fassio A, Onofri F, Baldelli P, Giovedí S, Benfenati F. Functional role of ATP binding to synapsin I in synaptic vesicle trafficking and release dynamics. 2014 J. Neurosci. 34: 14752-68. If: 6.747


11.   Giovedí S, Corradi A, Fassio A, Benfenati F. Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins. Front Pediatr. 2014 2:94. Review


12.   Verstegen AMJ, Tagliatti E, Lignani G, Marte A, Stolero T, Atias M, Corradi A, Valtorta F, Gitler D, Onofri F, Fassio A*, Benfenati F*. Phosphorylation of Synapsin I by Cyclin-Dependent Kinase-5 sets the ratio between the resting and the recycling pool of synaptic vesicles at hippocampal synapses.  J. Neurosci 2014 34:7266-80. *equal contribution. If: 6.608


13.   Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio A, Minetti C, Genton P, Zara F. Impairment of Ceramide Synthesis Causes a Novel Progressive Myoclonus Epilepsy. Ann Neurol. 2014 Apr 30. doi: 10.1002/ana.24170. [Epub ahead of print]. If: 11.193


14.   Falace A, Buhler E, Fadda M, Watrin F, Lippiello P, Pallesi-Pocachard E, Baldelli P, Benfenati F, Zara F, Represa A, Fassio A*, Cardoso C*. TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. Proc Natl Acad Sci U S A. 2014 111(6):2337-42. *equal contribution. If: 9.737


15.   Corradi A, Fadda M, Piton A, Patry L, Marte A, Rossi P, Cadieux-Dion M, Gauthier J, Lapointe L, Mottron L, Valtorta F, Rouleau GA, Fassio A, Benfenati F, Cossette P. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. Hum Mol Genet. 2014 23(1):90-103. If: 7.692


16.   Pozzi D, Lignani G, Ferrea E, Contestabile A, Paonessa F, D'Alessandro R, Lippiello P, Boido D, Fassio A, Meldolesi J, Valtorta F, Benfenati F, Baldelli P. REST/NRSF-mediated intrinsic homeostasis protects neuronal networks from hyperexcitability. EMBO J. 2013, 32:2994-3007. If: 9.822


17.   Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A. Novel Compound Heterozygous  Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy. Hum Mutat. 2013, 34(6):869-72. If: 5.213


18.   Krabben L, Fassio A, Bhatia VK, Pechstein A, Onofri F, Fadda M, Messa M, RaoY, Shupliakov O, Stamou D, Benfenati F, Haucke V. Synapsin I Senses Membrane Curvature by an Amphipathic Lipid Packing Sensor Motif. J Neurosci. 2011 Dec 7;31(49):18149-18154. If: 6.608


19.   Fassio A, Raimondi A, Lignani G, Benfenati F, Baldelli P. Synapsins: from synapse to network hyperexcitability and epilepsy. Semin Cell Dev Biol., 22: 408-15, 2011. if: 4,094


20.   Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, Mottron L, Valtorta F, Nguyen DK, Rouleau GA, Benfenati F, Cossette P. SYN1 loss-of-function mutations in ASD and partial epilepsy cause impaired synaptic function. Hum Mol Genet. 2011, 20: 2297-307. If: 7.692


21.   Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A*, Zara  F*. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet. 2010 Sep 10;87(3):365-70. *equal contribution. If: 11.193 ù+


22.   Messa M, Congia S, Defranchi E, Valtorta F, Fassio A, Onofri F, Benfenati F. Tyrosine phosphorylation of synapsin I by Src regulates synaptic-vesicle trafficking. J Cell Sci. 2010, 123:2256-65. If: 5.877


23.   Monaldi I, Vassalli M, Bachi A, Giovedì S, Millo E, Valtorta F, Raiteri R, Benfenati F, Fassio A. The highly conserved synapsin domain E mediates sinapsin dimerization and phospholipid vesicle clustering. Biochem J. 2010 Jan 27; 426(1):55-64. If: 4.654



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