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Neurofisiologia delle malattie neurodegenerative

Neurophysiology of neurodegenerative diseases

Componenti

Fotografia

Settore ERC

LS5_1 - Neuroanatomy and neurophysiology
LS5_2 - Molecular and cellular neuroscience
LS5_11 - Neurological disorders
LS5_12 - Psychiatric disorders

Attività

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.

  • 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 mood disorders and autism spectrum disorders (ASD).

  • Mood disorders 
In collaboration with Prof. Giuseppe Maina of the Dept. of Neuroscience we are studying the role of the enzyme GSK3 in patients with bipolar disorder or major depression. In an animal model (GSK3 double-knockin mouse) we are studying the neuronal mechanism undelying the role of GSK3 in depression. In parallel, we are studying the involvement of another protein, FGF14, in depression, 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).

 

  • Autism Spectrum Disorders (ASD)

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

Prodotti della ricerca

Mancini C*, Hoxha E*, Iommarini L, Brussino A, Richter U, Montarolo F, Cagnoli C, Parolisi R, Gondor Morosini DI, Nicolò V, Maltecca F, Muratori L, Ronchi G, Geuna S, Arnaboldi F, Donetti E, Giorgio E, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Riberi E, Casari G, Altruda F, Turco E, Gasparre G, Battersby BJ, Porcelli AM, Ferrero E, Brusco A*, Tempia F* (2019) Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity. *contributed equally. Neurobiol Dis. 124:14-28. https://doi.org/10.1016/j.nbd.2018.10.018.

Eriola Hoxha*, Andrea Marcinnò*, Francesca Montarolo, Linda Masante, Ilaria Balbo, Fernanda Laezza, Filippo Tempia (2019) Emerging roles of Fgf14 in behavioral control. Behavioral Brain Research 356: 257-265. https://doi.org/10.1016/j.bbr.2018.08.034.

Manes M, Alberici A, Di Gregorio E, Boccone L, Premi E, Mitro N, Pasolini MP, Pani C, Paghera B, Orsi L, Costanzi C, Ferrero M, Tempia F, Caruso D, Padovani A, Brusco A, Borroni B (2019) Long-term efficacy of Docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: an open label extension study. Parkinsonism & Related Disorders. https://doi.org/10.1016/j.parkreldis.2019.02.040.

Hoxha E, Lippiello P, Zurlo F, Balbo I, Santamaria R, Tempia F, Miniaci MC. The Emerging Role of Altered Cerebellar Synaptic Processing in Alzheimer's Disease. Front Aging Neurosci. 2018 Nov 27;10:396. doi: 10.3389/fnagi.2018.00396. eCollection 2018. Review.

Cerrato V, Mercurio S, Leto K, Fucà E, Hoxha E, Bottes S, Pagin M, Milanese M, Ngan C-Y, Concina G, Ottolenghi S, Wei C-L, Bonanno G, Pavesi G, Tempia F, Buffo A, Nicolis SK (2018) Sox2 conditional mutation in mouse causes ataxic symptoms, cerebellar vermis hypoplasia, and postnatal defects of Bergmann glia. Glia 66:1929-1946. http://dx.doi.org/10.1002/glia.23448.

Hoxha E, Balbo I, Miniaci MC, Tempia F (2018) Purkinje cell signaling deficits in animal models of ataxia. Front. Synaptic Neurosci. 10:6 (17 pages). eCollection 2018. Review. http://dx.doi.org/10.3389/fnsyn.2018.00006.

Hoxha E*, Gabriele RMC, Balbo I, Ravera F, Masante L, Zambelli V, Albergo C, Mitro N, Caruso D, Di Gregorio E, Brusco A, Borroni B and Tempia F (2017) Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice. Front. Cell. Neurosci. 11:343. http://dx.doi.org/10.3389/fncel.2017.00343. *corresponding author

Hoxha E, Lippiello P, Scelfo B, Tempia F, Ghirardi M, Miniaci MC. (2017) Maturation and refinement of cerebellar cortical circuits in normal development and in murine models of autism. Neural Plasticity, Article ID 2017:6595740, 14 pages. Review. doi: 10.1155/2017/6595740

Manes M, Alberici A, Di Gregorio E, Boccone L, Premi E, Mitro N, Pasolini MP,Pani C, Paghera B, Perani D, Orsi L, Costanzi C, Ferrero M, Zoppo A, Tempia F, Caruso D, Grassi M, Padovani A, Brusco A, Borroni B (2017) DHA is a beneficial replacement treatment for Spinocerebellar Ataxia 38 (SCA38). Ann Neurol. 2017 Oct 4. doi: 10.1002/ana.25059

Hoxha E, Tempia F, Lippiello P, Miniaci MC. (2016) Modulation, plasticity and pathophysiology of the parallel fiber-Purkinje cell synapse. Frontiers in Synaptic Neuroscience 8:35; doi: http://dx.doi.org/10.3389/fnsyn.2016.00035

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. Transl Psychiatry (2016) 6, e806; http://dx.doi.org/10.1038/tp.2016.66

Barbara Borroni, Eleonora Di Gregorio, Laura Orsi, Giovanna Vaula, Chiara Costanzi, Filippo Tempia, Nico Mitro, Donatella Caruso, Marta Manes, Lorenzo Pinessi, Alessandro Padovani, Alfredo Brusco, Loredana Boccone (2016) Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). Parkinsonism & Related Disorders; http://dx.doi.org/10.1016/j.parkreldis.2016.04.030

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

Pellegrino L, Hoxha E, Speranza L, Volpicelli F, Ferraro A, Leopoldo M, Lacivita E, Perrone-Capano C, Tempia F and Miniaci MC (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. (2015) Propagation of neuronal damage to embryonic grafts transplanted in the hippocampus of murine models of Alzheimer's disease. Rejuvination Res. 18: 554-563 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, 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]

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]

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]

Ultimo aggiornamento: 19/06/2019 17:07
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