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Anna Fassio

Affiliated Researcher
external collaborator

Research Line

Neuroscience and Smart Materials

Center

IIT Central Research Labs Genova

Contacts

Largo Rosanna Benzi 10
+39 010 5558 447

About

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.

Interests

synaptic physiology and synaptopathies

Projects

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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I numeri di IIT

L’Istituto Italiano di Tecnologia (IIT) è una fondazione di diritto privato - cfr. determinazione Corte dei Conti 23/2015 “IIT è una fondazione da inquadrare fra gli organismi di diritto pubblico con la scelta di un modello di organizzazione di diritto privato per rispondere all’esigenza di assicurare procedure più snelle nella selezione non solo nell’ambito nazionale dei collaboratori, scienziati e ricercatori ”.

IIT è sotto la vigilanza del Ministero dell'Istruzione, dell'Università e della Ricerca e del Ministero dell'Economia e delle Finanze ed è stato istituito con la Legge 326/2003. La Fondazione ha l'obiettivo di promuovere l'eccellenza nella ricerca di base e in quella applicata e di favorire lo sviluppo del sistema economico nazionale. La costruzione dei laboratori iniziata nel 2006 si è conclusa nel 2009.

Lo staff complessivo di IIT conta circa 1440 persone. L’area scientifica è rappresentata da circa l’85% del personale. Il 45% dei ricercatori proviene dall’estero: di questi, il 29% è costituito da stranieri provenienti da oltre 50 Paesi e il 16% da italiani rientrati. Oggi il personale scientifico è composto da circa 60 principal investigators, circa 110 ricercatori e tecnologi di staff, circa 350 post doc, circa 500 studenti di dottorato e borsisti, circa 130 tecnici. Oltre 330 posti su 1400 creati su fondi esterni. Età media 34 anni. 41% donne / 59 % uomini.

Nel 2015 IIT ha ricevuto finanziamenti pubblici per circa 96 milioni di euro (80% del budget), conseguendo fondi esterni per 22 milioni di euro (20% budget) provenienti da 18 progetti europei17 finanziamenti da istituzioni nazionali e internazionali, circa 60 progetti industriali

La produzione di IIT ad oggi vanta circa 6990 pubblicazioni, oltre 130 finanziamenti Europei e 11 ERC, più di 350 domande di brevetto attive, oltre 12 start up costituite e altrettante in fase di lancio. Dal 2009 l’attività scientifica è stata ulteriormente rafforzata con la creazione di dieci centri di ricerca nel territorio nazionale (a Torino, Milano, Trento, Parma, Roma, Pisa, Napoli, Lecce, Ferrara) e internazionale (MIT ed Harvard negli USA) che, unitamente al Laboratorio Centrale di Genova, sviluppano i programmi di ricerca del piano scientifico 2015-2017.

IIT: the numbers

Istituto Italiano di Tecnologia (IIT) is a public research institute that adopts the organizational model of a private law foundation. IIT is overseen by Ministero dell'Istruzione, dell'Università e della Ricerca and Ministero dell'Economia e delle Finanze (the Italian Ministries of Education, Economy and Finance).  The Institute was set up according to Italian law 326/2003 with the objective of promoting excellence in basic and applied research andfostering Italy’s economic development. Construction of the Laboratories started in 2006 and finished in 2009.

IIT has an overall staff of about 1,440 people. The scientific staff covers about 85% of the total. Out of 45% of researchers coming from abroad 29% are foreigners coming from more than 50 countries and 16% are returned Italians. The scientific staff currently consists of approximately 60 Principal Investigators110 researchers and technologists350 post-docs and 500 PhD students and grant holders and 130 technicians. External funding has allowed the creation of more than 330 positions . The average age is 34 and the gender balance proportion  is 41% female against 59% male.

In 2015 IIT received 96 million euros in public funding (accounting for 80% of its budget) and obtained 22 million euros in external funding (accounting for 20% of its budget). External funding comes from 18 European Projects, other 17 national and international competitive projects and approximately 60 industrial projects.

So far IIT accounts for: about 6990 publications, more than 130 European grants and 11 ERC grants, more than 350 patents or patent applications12 up start-ups and as many  which are about to be launched. The Institute’s scientific activity has been further strengthened since 2009 with the establishment of 11 research nodes throughout Italy (Torino, Milano, Trento, Parma, Roma, Pisa, Napoli, Lecce, Ferrara) and abroad (MIT and Harvard University, USA), which, along with the Genoa-based Central Lab, implement the research programs included in the 2015-2017 Strategic Plan.