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Neurofisiologia delle malattie neurodegenerative

Neurophysiology of neurodegenerative diseases

Componenti

Fotografia

Settore ERC

LS5_1 - Neuronal cells
LS5_2 - Glial cells and neuronal-glial communication
LS5_11 - Neurological and neurodegenerative disorders
LS5_12 - Mental disorders

Attività

Main goal

Our laboratory is studying an animal model of ataxia-teleangiectasia (AT), a severe neurodegenerative disease with motor disability starting in infancy, associated with tumor formation and hypersensitivity to radiations. Our project is aimed at finding the mechanisms of neuronal disfunction responsible for the motor symptoms and for cell degeneration.

 

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 psychiatric disorders. In an animal model (GSK3 double-knockin mouse) we are studying the neuronal mechanism undelying the role of GSK3. In parallel, we are studying the involvement of another protein, FGF14, in collaboration with Dr. Laezza and Dr. Green of the University of Texas Medical Branch at Galveston (TX, USA).

 

  • 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.

Another gene associated with ASD is Shank3. We study the consequences of Shank3 mutation in the function of cerebellar Purkinje cells. This research is in collaboration with Dr. Chiara Verpelli of the CNR Institute in Milan.

Prodotti della ricerca

Enza Ferrero, Eleonora Di Gregorio, Marta Ferrero, Erika Ortolan, Young‐Ah Moon, Antonella Di Campli, Lisa Pavinato, Cecilia Mancini, Debasmita Tripathy, Marta Manes, Eriola Hoxha, Chiara Costanzi, Elisa Pozzi, Matteo Rossi Sebastiano, Nico Mitro, Filippo Tempia, Donatella Caruso, Barbara Borroni, Manuela Basso, Michele Sallese, Alfredo Brusco (2023) Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot. Human Genetics. Published online 18 May 2023. https://doi.org/10.1007/s00439-023-02572-y

Claudia Cristiano, Eriola Hoxha, Pellegrino Lippiello, Ilaria Balbo, Roberto Russo, Filippo Tempia, Maria Concetta Miniaci (2022) Maternal treatment with sodium butyrate reduces the development of autism-like traits in mice offspring. Biomedicine & Pharmacotherapy 156: 113870. https://doi.org/10.1016/j.biopha.2022.113870

Balbo I, Montarolo F, Genovese F, Tempia F, Hoxha E. Effects of the administration of Elovl5-dependent fatty acids on a spino-cerebellar ataxia 38 mouse model Behav Brain Funct 18, 8 (2022). https://doi.org/10.1186/s12993-022-00194-4

Montarolo, Francesca; Martire, Serena; Francesco, Chiara; Allegra, Sarah; Silvia, De Francia; Hoxha, Eriola; Tempia, Filippo; Alfonso, Capobianco Marco; Bertolotto, Antonio (2022) NURR1 deficient mice have age- and sex-specific behavioral phenotypes. J Neurosci Res https://doi.org/10.1002/jnr.25067

Hoxha, E., Balbo, I., Parolisi, R., Audano, M., Montarolo, F., Ravera, F., Guglielmotto, M., Muratori, L., Raimondo, S., DiGregorio, E., Buffo, A., Brusco, A., Borroni, B., Mitro, N., Caruso, D., & Tempia, F. (2021). Elovl5 is required for proper action potential conduction along peripheral myelinated fibers. Glia 69: 2419-2428. https://doi.org/10. 1002/glia.24048

Balbo I, Montarolo F, Boda E, Tempia F and Hoxha E (2021) Elovl5 Expression in the Central Nervous System of the Adult Mouse. Front. Neuroanat. 15:669073. doi: https://doi.org/10.3389/fnana.2021.669073

Lippiello, Pellegrino; Hoxha, Eriola; Cristiano, Claudia; Malvicini, Emilia; Stanley, Adrien; Russo, Roberto; Tempia, Filippo; Miniaci, Maria. (2020) Role of β3-adrenergic receptor in the modulation of synaptic transmission and plasticity in mouse cerebellar cortex. J Neuroscie Res 98: 2263-2274. https://doi.org/10.1002/jnr.24712

Lippiello P, Hoxha E, Tempia F, Miniaci MC. (2020) GIRK1-mediated inwardly rectifying potassium current is a candidate mechanism behind Purkinje cell excitability, plasticity and neuromodulation. Cerebellum, Online First 02 July 2020. https://doi.org/10.1007/s12311-020-01158-y

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: 08/01/2024 17:57
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