Neurophysiology of neurodegenerative diseases
Staff
- Tempia Filippo (Coordinator)
- Hoxha Eriola (Member)
- Rebecca Gabriele (Student)
- Linda Masante (Student)
- Ilaria Balbo (Student)
- Vanessa Zambelli (Student)
Contacts
- +390116706645
- Send email to members
ERC Sectors
Activity
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)
- Schizophrenia
- Mood disorders
Publications
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. http://dx.doi.org/10.1016/j.neuropharm.2015.10.019.
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: http://dx.doi.org/10.3389/fncel.2015.00205
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]