
Neuroscience
Molecular genetics of intellectual disabilities

Intellectual Disability (ID) is a common human disorder that may be one of the clinical signs of a syndrome (as in Down syndrome), or it may be associated with metabolic, mitochondrial or developmental disorders. A large group of ID includes the non-specific forms whose only consistent clinical manifestation is the mental handicap.
Research Activity
Mignogna ML, D'Adamo P. Critical importance of RAB proteins for synaptic function. Small GTPases. 2017 Feb 1:1-13.
Morè L, Künnecke B, Yekhlef L, Bruns A, Marte A, Fedele E, Bianchi V, Taverna S, Gatti S, D'Adamo P. Altered fronto-striatal functions in the Gdi1-null mouse model of X-linked Intellectual Disability. Neuroscience 2017 Mar 6;344:346-359.
Mignogna ML, Giannandrea M, Gurgone A, Fanelli F, Raimondi F, Mapelli L, Bassani S, Fang H, Van Anken E, Alessio M, Passafaro M, Gatti S, Esteban JA, Huganir R, D'Adamo P. The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition. Nat Commun. 2015 Mar 18;6:6504.
D'Adamo P, Masetti M, Bianchi V, Morè L, Mignogna ML, Giannandrea M, Gatti S. RAB GTPases and RAB-interacting proteins and their role in the control of cognitive functions. Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:302-14.
Bianchi V, Gambino F, Muzio L, Toniolo D, Humeau Y, D'Adamo P. Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections. PLoS One. 2012; 7(1): e29763.
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 2010 Feb 12;86(2):185-95.
Bianchi V, Farisello P, Baldelli P, Meskenaite V, Milanese M, Vecellio M, Mühlemann S, Lipp HP, Bonanno G, Benfenati F, Toniolo D, D'Adamo P. Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training. Hum Mol Genet. 2009 Jan 1;18(1):105-17.
D'Adamo P, Welzl H, Papadimitriou S, Raffaele di Barletta M, Tiveron C, Tatangelo L, Pozzi L, Chapman PF, Knevett SG, Ramsay MF, Valtorta F, Leoni C, Menegon A, Wolfer DP, Lipp HP, Toniolo D. Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. Hum Mol Genet. 2002 Oct 1;11(21):2567-80.
D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet. 1998 Jun;19(2):134-9.