Vai al contenuto principale
Coronavirus: aggiornamenti per la comunità universitaria / Coronavirus: updates for UniTo Community
Group picture

Neurophysiology of neurodegenerative diseases




ERC Sectors

LS5_1 - Neuronal cells
LS5_2 - Glial cells and neuronal-glial communication
LS5_8 - Neural basis of behaviour
LS5_9 - Neural basis of cognition
LS5_11 - Neurological and neurodegenerative disorders
LS5_12 - Mental disorders


Main goal

The experiments of our laboratory are aimed at discovering the mechanisms responsible for some rare human spinocerebellar ataxias (SCA), for which at present no therapy is available. Our lab contributed to the discovery of SCA28 and of SCA38 and we are currently studying their pathogenic mechanisms. Recently we started to investigate also SCA27. The final goal of our research is to identify mechanisms the can be targeted by specific therapies.

Experimental models

  • SCA28

Our laboratory, in collaboration with Dr. Brusco (Genetics, Univ. of Torino), is studying the first animal model bearing the mutated AFG3L2 gene of a SCA28 patient. This research is financially supported by Telethon-Italy.

  •  SCA38

In collaboration with Dr. Borroni (Neurology, Univ. of Brescia), Dr. Brusco (Genetics, Univ. of Torino) and Dr. Caruso (Biochemistry, Univ. of Milano) we are starting a new study aimed at finding the mechanisms responsible for cerebellar deficits and cell degeneration in SCA38. Our part of the research concerns an animal model of SCA38, the ELOVL5 knock out mouse, in collaboration with Dr. Horton and Dr. Moon of the University of Texas Southwestern Medical Center in Dallas (TX, USA). This research is financially supported by Telethon-Italy.

  • SCA27

In collaboration we Dr. Laezza of the University of Texas Medical Branch at Galveston (TX, USA) we are studying the alterations of cerebellar mechanims in an animal model of SCA27.



Main goal
These lines of research are aimed at finding the cellular and molecular mechanisms of autism spectrum disorders (ASD), schizophrenia and mood disorders.


  • Autism Spectrum Disorders (ASD)
In a research led by the lab of Dr. Daniela Carulli (Neuroscience Institute Cavalieri Ottolenghi) we are studying a mouse model in which the PTEN gene (whose mutation is associated with ASD) was selectively knock out in cerebellar Purkinje cells.

  • Schizophrenia 
In collaboration with Dr. Laezza of the University of Texas Medical Branch at Galveston (TX, USA) we are studying the cognitive dysfunctions and the cerebral alterations of the Fgf14 knock out mouse, as a model of schizophrenia.
  • Mood disorders 
The same animal model with schizophrenic traits (Fgf14 knock out mouse) also displays alterations of mood. We are involved in a large study on these aspects in collaboration with Dr. Laezza and Dr. Green of the University of Texas Medical Branch at Galveston (TX, USA) and with Dr. D'Ascenzo of the Catholic University of Rome (Italy).


Alshammari TK, Alshammari MA, Nenov MN, Hoxha E, Cambiaghi M, Marcinno A, James TF, Singh P, Labate D, Li J, Meltzer HY, Sacchetti B, Tempia F, Laezza F. Genetic deletion of fibroblast growth factor 14 recapitulates phenotypic alterations underlying cognitive impairment associated with schizophrenia. Translational Psychiatry (in press).

Cupolillo D, Hoxha E, Faralli A, De Luca A, Tempia F, Rossi F, Carulli D (2016) Autistic-like traits and cerebellar dysfunction in Purkinje cell PTEN knock-out mice. Neuropsychopharmacol doi: 10.1038/npp.2015.339.

Lippiello Pellegrino, Hoxha Eriola, Speranza Luisa, Volpicelli Floriana, Ferraro Angela, Leopoldo Marcello, Lacivita Enza, Perrone-Capano Carla, Tempia Filippo and Miniaci Maria Concetta. (2016) The 5-HT7 Receptor Triggers Cerebellar Long-Term Synaptic Depression via PKC-MAPK. J Neuropharmacol 101: 426-438.

Sadallah M, Labat-Gest V, Tempia F. Propagation of neuronal damage to embryonic grafts transplanted in the hippocampus of murine models of Alzheimer's disease. Rejuvination Res. (Instant Online ahead of print June 2, 2015) doi: http://dx.10.1089/rej.2015.1672.

Tempia F, Hoxha E, Negro G, Alshammari MA, Alshammari TK, Panova-Elektronova N and Laezza F (2015) Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27. Front. Cell. Neurosci. 9:205. doi:

Sallam HS, Tumurbaatar B, Zhang WR, Tuvdendorj D, Chandalia M, Tempia F, Laezza F, Taglialatela G, Abate N. (2015) Peripheral adipose tissue insulin resistance alters lipid composition and function of hippocampal synapses. Journal of neurochemistry 133(1) 125-33 [DOI  PMID]

Nenov MN, Tempia F, Denner L, Dineley KT, Laezza F. (2015) Impaired firing properties of dentate granule neurons in an Alzheimer's disease animal model are rescued by PPARgamma agonism. Journal of neurophysiology 113(6) 1712-26 [DOI  PMID]

Lippiello P, Hoxha E, Volpicelli F, Lo Duca G, Tempia F, Miniaci MC. (2015) Noradrenergic modulation of the parallel fiber-Purkinje cell synapse in mouse cerebellum.Neuropharmacology 89 33-42 [DOI  PMID]

Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. (2014) ELOVL5 mutations cause spinocerebellar ataxia 38. American journal of human genetics 95(2) 209-17 [DOI  PMID]

Montarolo F, Parolisi R, Hoxha E, Boda E, Tempia F. (2013) Early enriched environment exposure protects spatial memory and accelerates amyloid plaque formation in APP(Swe)/PS1(L166P) mice. PloS one 8(7) e69381 [DOI  PMID]

Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A. (2013) A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.Journal of medical genetics 50(8) 543-51 [DOI  PMID]

Hoxha E, Tonini R, Montarolo F, Croci L, Consalez GG, Tempia F. (2013) Motor dysfunction and cerebellar Purkinje cell firing impairment in Ebf2 null mice. Molecular and cellular neurosciences 52 51-61 [DOI  PMID]

Hoxha E, Boda E, Montarolo F, Parolisi R, Tempia F. (2012) Excitability and synaptic alterations in the cerebellum of APP/PS1 mice. PloS one 7(4) e34726 [DOI  PMID]

Boda E, Vigano F, Rosa P, Fumagalli M, Labat-Gest V, Tempia F, Abbracchio MP, Dimou L, Buffo A. (2011) The GPR17 receptor in NG2 expressing cells: focus on in vivo cell maturation and participation in acute trauma and chronic damage. Glia 59(12) 1958-73 [DOI  PMID]

Boda E, Hoxha E, Pini A, Montarolo F, Tempia F. (2012) Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease. Journal of molecular neuroscience : MN 46(3) 606-15 [DOI  PMID]

Bianchi FT, Camera P, Ala U, Imperiale D, Migheli A, Boda E, Tempia F, Berto G, Bosio Y, Oddo S, LaFerla FM, Taraglio S, Dotti CG, Di Cunto F. (2011) The collagen chaperone HSP47 is a new interactor of APP that affects the levels of extracellular beta-amyloid peptides. PloS one 6(7) e22370 [DOI  PMID]

Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F. (2010) Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease. BMC neuroscience 11 55 [DOI  PMID]

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. (2010) Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nature genetics 42(4) 313-21 [DOI  PMID]

Last update: 27/04/2016 16:54
Non cliccare qui!