Laboratorio di Genetica Molecolare e Biotecnologie

Settore ERC

Attività

Versione Italiana

Il gruppo di Genetica Molecolare e Biotecnologie è attualmente costituito da un Professore Ordinario, Riccardo Papa, un Professore associato, Enrico Baruffini, un RTDB, Cristina Dallabona, un RTT, Camilla Ceccatelli Berti, un RTDA, Maria Carla Gerra, quattro dottorandi, a cui si aggiunge l’attività parziale di due tecnici e l'attività di un professore quiescente ospite. Il gruppo si occupa di due settori di ricerca principale.

1) Lievito come modello genetico per lo studio di patologie mitocondriali umane e per la drug discovery.

• Studio dell’effetto di varianti genetiche identificate mediante NGS del DNA di pazienti affetti da patologie mitocondriali, mediante l’introduzione della mutazione equivalente nel gene ortologo del lievito Saccharomyces cerevisiae o mediante espressione eterologa del gene umano mutagenizzato, con la finalità di confermare il ruolo patologico della mutazione
• Utilizzo di mutanti di lievito alterati in specifiche funzioni mitocondriali per cercare molecole in grado di rispristinare il fenotipo wild type mediante tecniche di drug repurposing, allo scopo di identificare molecole a potenziale azione terapeutica
• Studio delle conseguenze molecolari di specifiche mutazioni in geni codificanti per proteine mitocondriali, e gli effetti di queste sulla biogenesi mitocondriale

All’interno di questo ambito di ricerca, il gruppo si avvale di diverse collaborazioni nazionali e internazionali, fra cui gruppi che si occupano dell’analisi genetica e funzionale in pazienti affetti da patologie mitocondriali oppure dello studio di mutazioni in altri organismi modello.

2) Genetica ed Epigenetica dei comportamenti additivi.

• Identificazione di polimorfismi di suscettibilità in grado di aumentare il rischio di sviluppare la tossico-dipendenza, anche in relazione a fattori ambientali (relazioni parentali, traumi infantile,  abusi…).
• Correlazione dei genotipi con la risposta al trattamento della tossicodipendenza e con i quadri neuroendocrini.
• Ruolo della metilazione del DNA nella mediazione tra fattori genetici e ambientali nell’uso di droghe.

Il laboratorio di Genetica Molecolare e Biotecnologie è sempre aperto a nuove collaborazioni con entri pubblici o privati, nazionali o internazionali. Se volete contattarci, anche per semplici informazioni, potete scrivere ad uno dei componenti (indirizzo email generale: nome.cognome@unipr.it)

English version

The Molecular Genetics and Biotechnology group is currently composed of a Full Professor, Riccardo Papa, an Associate Professor, Enrico Baruffini, an RTDB, Cristina Dallabona, an RTT, Camilla Ceccatelli Berti, an RTDA, Maria Carla Gerra, four PhD students, plus the partial activity of two technicians and the activity of a quiescent guest professor. The group focuses on two main research areas.

1) Yeast as a genetic model for the study of human mitochondrial diseases and for drug discovery.

• Study of the effect of genetic variants identified by NGS from the DNA of patients affected by mitochondrial pathologies, by introducing the equivalent mutation in the yeast Saccharomyces cerevisiae orthologous gene or by heterologous expression of the mutagenized human gene, with the aim of confirming the pathological role of the mutation.
• Use of the mutant yeast mutants in specific mitochondrial functions for searching drugs capable of restoring the wild-type phenotype by means of drug repurposing techniques, in order to identify molecules with potential therapeutic action
• Study of the molecular consequences of specific mutations in genes encoding mitochondrial proteins, and the effects of these ones on mitochondrial biogenesis

Within this field of research, the group takes advantage of various national and international collaborations with groups that mainly perform genetic and functional analysis in patients with mitochondrial disorders or study mutations in others model organisms.

2) Genetics and epigenetics of substance abuse disorders.

• Identification of susceptibility polymorphisms that can increase the risk of developing drug addiction, also in correlation to environmental factors such as, in particular, parental relationships, childhood trauma and abuse
• Correlation of genotypes with response to drug treatment and with neuroendocrine context.
• The role of DNA methylation in the mediation between genetic and environmental factors in the drugs’ use.

The Laboratory of Molecular Genetics and Biotechnology always welcomes new collaborations with public or private, national or international groups. If you want to contact us, even for simple information, you can write to one of the components (general email address: name.surname@unipr.it)

Progetti

• Identificazione di farmaci per le patologie POLG tramite test su sistemi lievito-zebrafish (ZIPPY)
• Italian Project on Hereditary Optic Neuropathies (IPHON): from genetic basis to therapy
• Mitochondrial aminoacyl tRNA synthetases: implementation of the genetic diagnosis and evaluation of amino acid supplementation as potential therapeutic approach
• Identification and characterization of drugs targeting POLG disorders by using yeast models
• Effetti di inibizione da substrato determinati da metionina in fermentazioni industriali per la produzione di S-adenosil-metionina e studio dell’espressione correlata dei geni SAM1 e SAM2
• Identification of the molecular target of clofilium tosylate, a drug rescuing mitochondrial defects due to pathological mutations in the mitochondrial DNA polymerase
• Dal lievito all'uomo: ruolo delle isoforme e delle mutazioni patogene di OPA1 nelle neurodegenerazioni caratterizzate da instabilità del genoma mitocondriale
• “Studio della stabilità nel tempo di miscele batteriche in grado di produrre acido lattico da siero di latte”
• “Studio per la produzione microbica di lattato: una soluzione per la valorizzazione e lo smaltimento del siero di latte”

Prodotti della ricerca

2023

Fiorini, C, Degiorgi, A, Cascavilla, M. L, Tropeano, C. V, La Morgia, C, Battista, M, Ormanbekova, D, Palombo, F, Carbonelli, M, Bandello, F, Carelli, V, Maresca, A, Barboni, P, Baruffini, E, & Caporali, L. (2023) Recessive MECR pathogenic variants cause an LHON-like optic neuropathy, Ejmg, 61, 93-101. doi: 10.1136/jmg-2023-109340

Ceccatelli Berti, C, Gihaz, S, Figuccia, S, Choi, J. Y, Pal Anasuya, C, Goffrini, P, & Ben Mamoun, C. (2023) Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress, International Journal of Molecular Sciences, 24, 435-448. doi: 10.3390/ijms24010435

Magistrati, M, Gilea, A. I, Gerra, M. C, Baruffini, E, & Dallabona, C. (2023) Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae, International Journal of Molecular Sciences, 24, 1-34. doi: 10.3390/ijms241310696

Gilea, A. I, Magistrati, M, Notaroberto, I, Tiso, N, Dallabona, C, & Baruffini, E. (2023) The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders, Iubmb Life, 75, 983-1002. doi: 10.1002/iub.2770

Bucci, P, Mucci, A, Giordano, G. M. S. M. T. G. G. M, Caporusso, E, Giuliani, L, Gibertoni, Dino, R, Alessandro, Rocca, P, Bertolino, A, Galderisi, S, Piegari, G, Merlotti, E, Brando, F, Papalino, M. et al. (2023) Insight in cognitive impairment assessed with the Cognitive Assessment Interview in a large sample of patients with schizophrenia, European Archives of Psychiatry and Clinical Neuroscience, giugno 2023. doi: 10.1007/s00406-023-01641-7

Giordano, R, Gerra, M. C, Okutani, H, Lo Vecchio, S, Stensballe, A, Petersen, K. K. S, & Arendt-Nielsen, L. (2023) The temporal expression of circulating microRNAs after acute experimental pain in humans, European Journal of Pain, 27, 366-377. doi: 10.1002/ejp.2062

Magistrati, M, Gilea, A. I, Ceccatelli Berti, C, Baruffini, E, & Dallabona, C. (2023) Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models, International Journal of Molecular Sciences, 24, 1-35. doi: 10.3390/ijms24032178

Arribas-Carreira, L, Dallabona, C, Swanson, M. A, Farris, J, ØStergaard, E, Tsiakas, K, Hempel, M, Aquaviva-Bourdain, C, Koutsoukos, S, Stence, N. V, Magistrati, M, Spector, E. B, Kronquist, K, Christensen, M, Karstensen, H. G. et al. (2023) Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency, Human Molecular Genetics, 32, 917-933. doi: 10.1093/hmg/ddac246

Barbetti, M, Vilella, R, Naponelli, V, Bilotti, I, Magistrati, M, Dallabona, C, Ielpo, D, Andolina, D, Sgoifo, A, Savi, M, & Carnevali, L. (2023) , Physiology & Behavior. 

2022

Gennarelli, M, Monteleone, P, Minelli, A, Maria Monteleone, A, Rossi, A, Rocca, P, Bertolino, A, Aguglia, E, Amore, M, Bellino, S, Bellomo, A, Biondi, M, Bucci, P, Carpiniello, B, Cascino, G, Cuomo, A, Dell'Osso, L, Di Giannantonio, M, Maria Giordano, G, Marchesi, C, Oldani, L, Pompili, M, Roncone, R, Rossi, R, Siracusano, A, Tenconi, E, Vita, A, Zeppegno, P, Galderisi, S, Maj, M, & Ossola, P. (2022) Genome-wide association study detected novel susceptibility genes for social cognition impairment in people with schizophrenia, The World Journal of Biological Psychiatry, 23, 46-54. doi: 10.1080/15622975.2021.1907722

Barbetti, M, Vilella, R, Dallabona, C, Gerra, M. C, Bocchi, L, Ielpo, D, Andolina, D, Sgoifo, A, Savi, M, & Carnevali, L. (2022) , Heliyon. doi: 10.1016/j.heliyon.2022.e11466

Vilella, R, Izzo, S, Naponelli, V, Savi, M, Bocchi, L, Dallabona, C, Gerra, M. C, Stilli, D, & Bettuzzi, S. (2022) In Vivo Treatment with a Standardized Green Tea Extract Restores Cardiomyocyte Contractility in Diabetic Rats by Improving Mitochondrial Function through SIRT1 Activation, Pharmaceuticals, 15. doi: 10.3390/ph15111337

Wongkittichote, P, Magistrati, M, Shimony, J. S, Smyser, C. D, Fatemi, S. A, Fine, A. S, Bellacchio, E, Dallabona, C, & Shinawi, M. (2022) Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Molecular Genetics and Metabolism, 136, 260-267. doi: 10.1016/j.ymgme.2022.07.002

2021

2020

2019

Olahova M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA. (2019) Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. Human molecular genetics [DOI  PMID]

Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Ceccatelli Berti C, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schols L, Shalev S, Khayat M, Mahajnah M, Spiegel R. (2019) Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. Journal of inherited metabolic disease 42(2) 264-275 [DOI  PMID]

Trasvina-Arenas CH, Hoyos-Gonzalez N, Castro-Lara AY, Rodriguez-Hernandez A, Sanchez-Sandoval ME, Jimenez-Sandoval P, Ayala-Garcia VM, Diaz-Quezada C, Lodi T, Baruffini E, Brieba LG. (2019) Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites. Mitochondrion 49 166-177 [DOI  PMID]

Dallabona C, Pioli M, Spadola G, Orsoni N, Bisceglie F, Lodi T, Pelosi G, Restivo FM, Degola F. (2019) Sabotage at the Powerhouse? Unraveling the Molecular Target of 2-Isopropylbenzaldehyde Thiosemicarbazone, a Specific Inhibitor of Aflatoxin Biosynthesis and Sclerotia Development in Aspergillus flavus, Using Yeast as a Model System. Molecules (Basel, Switzerland) 24(16) [DOI  PMID]

Daghino S, Di Vietro L, Petiti L, Martino E, Dallabona C, Lodi T, Perotto S. (2019) Yeast expression of mammalian Onzin and fungal FCR1 suggests ancestral functions of PLAC8 proteins in mitochondrial metabolism and DNA repair. Scientific reports 9(1) 6629 [DOI  PMID]

Chin HL, Goh DL, Wang FS, Tay SKH, Heng CK, Donnini C, Baruffini E, Pines O. (2019) A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension. Journal of molecular medicine (Berlin, Germany) 97(11) 1557-1566 [DOI  PMID]

Maffezzini C, Laine I, Dallabona C, Clemente P, Calvo-Garrido J, Wibom R, Naess K, Barbaro M, Falk A, Donnini C, Freyer C, Wredenberg A, Wedell A. (2019) Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy. Molecular genetics & genomic medicine 7(6) e654 [DOI  PMID]

Verrigni D, Nottia MD, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E. (2019) Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy. Human mutation [DOI  PMID]

Gerra MC, Manfredini M, Cortese E, Antonioni MC, Leonardi C, Magnelli F, Somaini L, Jayanthi S, Cadet JL, Donnini C. (2019) Genetic and Environmental Risk Factors for Cannabis Use: Preliminary Results for the Role of Parental Care Perception. Substance use & misuse 1-11 [DOI  PMID]

Brevetto: Delahodde, Agnès, NUGROHO PITAYU, Laras, Baruffini, Enrico, Lodi, Tiziana, Rötig, Agnès, Procaccio, Vincent (2019) COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES. https://air.unipr.it/handle/11381/2863043

2018

Del Dotto V, Fogazza M, Musiani F, Maresca A, Aleo SJ, Caporali L, La Morgia C, Nolli C, Lodi T, Goffrini P, Chan D, Carelli V, Rugolo M, Baruffini E, Zanna C. (2018) Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models. Biochimica et biophysica acta. Molecular basis of disease 1864(10) 3496-3514 [DOI  PMID]

Gilberti M, Baruffini E, Donnini C, Dallabona C. (2018) Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex. PloS one 13(10) e0205014 [DOI  PMID]

Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. (2018) Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy. Journal of medical genetics 55(9) 599-606 [DOI  PMID]

Carmona-Gutierrez D, Bauer MA, Zimmermann A, Aguilera A, Austriaco N, Ayscough K, Balzan R, Bar-Nun S, Barrientos A, Belenky P, Blondel M, Braun RJ, Breitenbach M, Burhans WC, Buttner S, Cavalieri D, Chang M, Cooper KF, Corte-Real M, Costa V, Cullin C, Dawes I, Dengjel J, Dickman MB, Eisenberg T, Fahrenkrog B, Fasel N, Frohlich KU, Gargouri A, Giannattasio S, Goffrini P, Gourlay CW, Grant CM, Greenwood MT, Guaragnella N, Heger T, Heinisch J, Herker E, Herrmann JM, Hofer S, Jimenez-Ruiz A, Jungwirth H, Kainz K, Kontoyiannis DP, Ludovico P, Manon S, Martegani E, Mazzoni C, Megeney LA, Meisinger C, Nielsen J, Nystrom T, Osiewacz HD, Outeiro TF, Park HO, Pendl T, Petranovic D, Picot S, Polcic P, Powers T, Ramsdale M, Rinnerthaler M, Rockenfeller P, Ruckenstuhl C, Schaffrath R, Segovia M, Severin FF, Sharon A, Sigrist SJ, Sommer-Ruck C, Sousa MJ, Thevelein JM, Thevissen K, Titorenko V, Toledano MB, Tuite M, Vogtle FN, Westermann B, Winderickx J, Wissing S, Wolfl S, Zhang ZJ, Zhao RY, Zhou B, Galluzzi L, Kroemer G, Madeo F. (2018) Guidelines and recommendations on yeast cell death nomenclature. Microbial cell (Graz, Austria) 5(1) 4-31 [DOI  PMID]

Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG. (2018) Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. Haematologica [DOI  PMID]

Gerra MC, Jayanthi S, Manfredini M, Walther D, Schroeder J, Phillips KA, Cadet JL, Donnini C. (2018) Gene variants and educational attainment in cannabis use: mediating role of DNA methylation. Translational psychiatry 8(1) 23 [DOI  PMID]

2017

Dallabona C, Baruffini E, Goffrini P, Lodi T. (2017) Dominance of yeast aac2(R96H) and aac2(R252G) mutations, equivalent to pathological mutations in ant1, is due to gain of function. Biochemical and biophysical research communications 493(2) 909-913 [DOI  PMID]

Del Dotto V, Mishra P, Vidoni S, Fogazza M, Maresca A, Caporali L, McCaffery JM, Cappelletti M, Baruffini E, Lenaers G, Chan D, Rugolo M, Carelli V, Zanna C. (2017) OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions. Cell reports 19(12) 2557-2571 [DOI  PMID]

Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. (2017) Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. JAMA neurology 74(6) 686-694 [DOI  PMID]

Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M. (2017) Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. Human molecular genetics 26(21) 4257-4266 [DOI  PMID]

Degola F, Bisceglie F, Pioli M, Palmano S, Elviri L, Pelosi G, Lodi T, Restivo FM. (2017) Structural modification of cuminaldehyde thiosemicarbazone increases inhibition specificity toward aflatoxin biosynthesis and sclerotia development in Aspergillus flavus. Applied microbiology and biotechnology 101(17) 6683-6696 [DOI  PMID]

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Ounap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW. (2016) Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. American journal of human genetics 99(4) 860-876 [DOI  PMID]

Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Muhlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D. (2017) A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy. Journal of medical genetics 54(12) 815-824 [DOI  PMID]

2016

Nasca A, Legati A, Baruffini E, Nolli C, Moroni I, Ardissone A, Goffrini P, Ghezzi D. (2016) Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. Human mutation 37(9) 898-903 [DOI  PMID]

Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA. (2016) Defective PITRM1 mitochondrial peptidase is associated with Abeta amyloidotic neurodegeneration. EMBO molecular medicine 8(3) 176-90 [DOI  PMID]

Pitayu L, Baruffini E, Rodier C, Rotig A, Lodi T, Delahodde A. (2016) Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases. Human molecular genetics 25(4) 715-27 [DOI  PMID]

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Ounap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW. (2016) Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. American journal of human genetics 99(4) 860-876 [DOI  PMID]

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. (2016) LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain : a journal of neurology 139(Pt 3) 782-94 [DOI  PMID]

Gerra G, Manfredini M, Somaini L, Milano G, Ciccocioppo R, Donnini C. (2016) Perceived parental care during childhood, ACTH, cortisol and nicotine dependence in the adult. Psychiatry research 245 458-465 [DOI  PMID]

Gerra G, Manfredini M, Somaini L, Maremmani I, Leonardi C, Donnini C. (2016) Sexual Dysfunction in Men Receiving Methadone Maintenance Treatment: Clinical History and Psychobiological Correlates. European addiction research 22(3) 163-75 [DOI  PMID]

2015

Nolli C, Goffrini P, Lazzaretti M, Zanna C, Vitale R, Lodi T, Baruffini E. (2015) Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy. Mitochondrion 25 38-48 [DOI  PMID]

Rivero D, Berna L, Stefanini I, Baruffini E, Bergerat A, Csikasz-Nagy A, De Filippo C, Cavalieri D. (2015) Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains. Environmental microbiology 17(8) 3069-81 [DOI  PMID]

Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM. (2015) Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Reunion Island. American journal of human genetics 96(5) 826-31 [DOI  PMID]

Lodi T, Dallabona C, Nolli C, Goffrini P, Donnini C, Baruffini E. (2015) DNA polymerase gamma and disease: what we have learned from yeast. Frontiers in genetics 6 106 [DOI  PMID]

Baruffini E, Ferrari J, Dallabona C, Donnini C, Lodi T. (2015) Polymorphisms in DNA polymerase gamma affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae. Mitochondrion 20 52-63 [DOI  PMID]

Tigano M, Ruotolo R, Dallabona C, Fontanesi F, Barrientos A, Donnini C, Ottonello S. (2015) Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions. Nucleic acids research 43(17) 8368-80 [DOI  PMID]

Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. (2015) TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. American journal of human genetics 97(2) 319-28 [DOI  PMID]

Ardissone A, Lamantea E, Quartararo J, Dallabona C, Carrara F, Moroni I, Donnini C, Garavaglia B, Zeviani M, Uziel G. (2015) A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature. JIMD reports 20 95-101 [DOI  PMID]

Degola F, Morcia C, Bisceglie F, Mussi F, Tumino G, Ghizzoni R, Pelosi G, Terzi V, Buschini A, Restivo FM, Lodi T. (2015) In vitro evaluation of the activity of thiosemicarbazone derivatives against mycotoxigenic fungi affecting cereals. International journal of food microbiology 200 104-11 [DOI  PMID]

Alston CL, Ceccatelli Berti C, Blakely EL, Olahova M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW. (2015) A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Human genetics 134(8) 869-79 [DOI  PMID]

2014

Marchi L, Polverini E, Degola F, Baruffini E, Restivo FM. (2014) Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes. Plant physiology and biochemistry : PPB 83 225-31 [DOI  PMID]

Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW. (2014) Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. PLoS genetics 10(6) e1004424 [DOI  PMID]

Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D. (2014) VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Human mutation 35(8) 983-9 [DOI  PMID]

Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. (2014) Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82(23) 2063-71 [DOI  PMID]

Ang SK, Zhang M, Lodi T, Lu H. (2014) Mitochondrial thiol oxidase Erv1: both shuttle cysteine residues are required for its function with distinct roles. The Biochemical journal 460(2) 199-210 [DOI  PMID]

Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. (2014) Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. American journal of human genetics 94(1) 11-22 [DOI  PMID]

De Rocco D, Cerqua C, Goffrini P, Russo G, Pastore A, Meloni F, Nicchia E, Moraes CT, Pecci A, Salviati L, Savoia A. (2014) Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. Biochimica et biophysica acta 1842(2) 269-74 [DOI  PMID]

Gerra G, Somaini L, Leonardi C, Cortese E, Maremmani I, Manfredini M, Donnini C. (2014) Association between gene variants and response to buprenorphine maintenance treatment. Psychiatry research 215(1) 202-7 [DOI  PMID]

Gerra G, Somaini L, Manfredini M, Raggi MA, Saracino MA, Amore M, Leonardi C, Cortese E, Donnini C. (2014) Dysregulated responses to emotions among abstinent heroin users: correlation with childhood neglect and addiction severity. Progress in neuro-psychopharmacology & biological psychiatry 48 220-8 [DOI  PMID]

Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. (2014) EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature communications 5 4287 [DOI  PMID]

2013

Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. (2013) MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Human mutation 34(11) 1501-9 [DOI  PMID]

Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H. (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. American journal of human genetics 93(2) 211-23 [DOI  PMID]

Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C, Zeviani M. (2013) A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Human mutation 34(12) 1619-22 [DOI  PMID]

Indrieri A, Conte I, Chesi G, Romano A, Quartararo J, Tate R, Ghezzi D, Zeviani M, Goffrini P, Ferrero I, Bovolenta P, Franco B. (2013) The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. EMBO molecular medicine 5(2) 280-93 [DOI  PMID]

Panizza E, Ercolino T, Mori L, Rapizzi E, Castellano M, Opocher G, Ferrero I, Neumann HP, Mannelli M, Goffrini P. (2013) Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. Human molecular genetics 22(4) 804-15 [DOI  PMID]

2012

Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M. (2012) Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. American journal of human genetics 90(6) 1079-87 [DOI  PMID]

Baruffini E, Serafini F, Ferrero I, Lodi T. (2012) Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. PloS one 7(3) e34322 [DOI  PMID]

Zara G, Goffrini P, Lodi T, Zara S, Mannazzu I, Budroni M. (2012) FLO11 expression and lipid biosynthesis are required for air-liquid biofilm formation in a Saccharomyces cerevisiae flor strain. FEMS yeast research 12(7) 864-6 [DOI  PMID]

Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW. (2012) Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of medical genetics 49(9) 569-77 [DOI  PMID]

Rizzetto L, Zanni E, Uccelletti D, Ferrero I, Goffrini P. (2012) Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60. Journal of aging research 2012 946586 [DOI  PMID]

Somaini L, Manfredini M, Amore M, Zaimovic A, Raggi MA, Leonardi C, Gerra ML, Donnini C, Gerra G. (2012) Psychobiological responses to unpleasant emotions in cannabis users. European archives of psychiatry and clinical neuroscience 262(1) 47-57 [DOI  PMID]

2011

Serafini F, Bottacini F, Viappiani A, Baruffini E, Turroni F, Foroni E, Lodi T, van Sinderen D, Ventura M. (2011) Insights into physiological and genetic mupirocin susceptibility in bifidobacteria. Applied and environmental microbiology 77(9) 3141-6 [DOI  PMID]

Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M, Lodi T. (2011) Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11(1) 182-90 [DOI  PMID]

Somaini L, Donnini C, Raggi MA, Amore M, Ciccocioppo R, Saracino MA, Kalluppi M, Malagoli M, Gerra ML, Gerra G. (2011) Promising medications for cocaine dependence treatment. Recent patents on CNS drug discovery 6(2) 146-60 [PMID]

Gerra G, Saenz E, Busse A, Maremmani I, Ciccocioppo R, Zaimovic A, Gerra ML, Amore M, Manfredini M, Donnini C, Somaini L. (2011) Supervised daily consumption, contingent take-home incentive and non-contingent take-home in methadone maintenance. Progress in neuro-psychopharmacology & biological psychiatry 35(2) 483-9 [DOI  PMID]

Somaini L, Donnini C, Manfredini M, Raggi MA, Saracino MA, Gerra ML, Amore M, Leonardi C, Serpelloni G, Gerra G. (2011) Adverse childhood experiences (ACEs), genetic polymorphisms and neurochemical correlates in experimentation with psychotropic drugs among adolescents. Neuroscience and biobehavioral reviews 35(8) 1771-8 [DOI  PMID]

2010

Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF. (2010) Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology (Baltimore, Md.) 52(5) 1791-6 [DOI  PMID]

Baruffini E, Ferrero I, Foury F. (2010) In vivo analysis of mtDNA replication defects in yeast. Methods (San Diego, Calif.) 51(4) 426-36 [DOI  PMID]

Baruffini E, Lodi T. (2010) Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants. Mitochondrion 10(2) 183-7 [DOI  PMID]

Dallabona C, Marsano RM, Arzuffi P, Ghezzi D, Mancini P, Zeviani M, Ferrero I, Donnini C. (2010) Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. Human molecular genetics 19(6) 1098-107 [DOI  PMID]

Rinaldi T, Dallabona C, Ferrero I, Frontali L, Bolotin-Fukuhara M. (2010) Mitochondrial diseases and the role of the yeast models. FEMS yeast research 10(8) 1006-22 [DOI  PMID]

Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. (2010) Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Molecular genetics and metabolism 100(4) 345-8 [DOI  PMID]

Gerra G, Zaimovic A, Castaldini L, Garofano L, Manfredini M, Somaini L, Leonardi C, Gerra ML, Donnini C. (2010) Relevance of perceived childhood neglect, 5-HTT gene variants and hypothalamus-pituitary-adrenal axis dysregulation to substance abuse susceptibility. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 153B(3) 715-22 [DOI  PMID]

2009

Stricker S, Pruss H, Horvath R, Baruffini E, Lodi T, Siebert E, Endres M, Zschenderlein R, Meisel A. (2009) A variable neurodegenerative phenotype with polymerase gamma mutation. Journal of neurology, neurosurgery, and psychiatry 80(10) 1181-2 [DOI  PMID]

Baruffini E, Serafini F, Lodi T. (2009) Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains. Journal of biotechnology 143(4) 247-54 [DOI  PMID]

Fukasawa T, Sakurai H, Nogi Y, Baruffini E. (2009) Galactose transporters discriminate steric anomers at the cell surface in yeast. FEMS yeast research 9(5) 723-31 [DOI  PMID]

Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M. (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes. Journal of inherited metabolic disease 32(2) 143-58 [DOI  PMID]

Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. (2009) The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. American journal of human genetics 84(5) 594-604 [DOI  PMID]

Zara G, Angelozzi D, Belviso S, Bardi L, Goffrini P, Lodi T, Budroni M, Mannazzu I. (2009) Oxygen is required to restore flor strain viability and lipid biosynthesis under fermentative conditions. FEMS yeast research 9(2) 217-25 [DOI  PMID]

Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmuller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M. (2009) SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nature genetics 41(6) 654-6 [DOI  PMID]

Goffrini P, Ercolino T, Panizza E, Giache V, Cavone L, Chiarugi A, Dima V, Ferrero I, Mannelli M. (2009) Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor. Human molecular genetics 18(10) 1860-8 [DOI  PMID]

Balkova K, Sarinova M, Hodurova Z, Goffrini P, Gbelska Y. (2009) Functional analysis of the Kluyveromyces lactis PDR1 gene. FEMS yeast research 9(2) 321-7 [DOI  PMID]

Gerra G, Leonardi C, Cortese E, Zaimovic A, Dell'agnello G, Manfredini M, Somaini L, Petracca F, Caretti V, Raggi MA, Donnini C. (2009) Childhood neglect and parental care perception in cocaine addicts: relation with psychiatric symptoms and biological correlates. Neuroscience and biobehavioral reviews 33(4) 601-10 [DOI  PMID]

2008

Saliola M, Sponziello M, D'Amici S, Lodi T, Falcone C. (2008) Characterization of KlGUT2, a gene of the glycerol-3-phosphate shuttle, in Kluyveromyces lactis. FEMS yeast research 8(5) 697-705 [DOI  PMID]

Mannazzu I, Angelozzi D, Belviso S, Budroni M, Farris GA, Goffrini P, Lodi T, Marzona M, Bardi L. (2008) Behaviour of Saccharomyces cerevisiae wine strains during adaptation to unfavourable conditions of fermentation on synthetic medium: cell lipid composition, membrane integrity, viability and fermentative activity. International journal of food microbiology 121(1) 84-91 [DOI  PMID]

Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M. (2008) Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. American journal of human genetics 82(6) 1281-9 [DOI  PMID]

Bao WG, Guiard B, Fang ZA, Donnini C, Gervais M, Passos FM, Ferrero I, Fukuhara H, Bolotin-Fukuhara M. (2008) Oxygen-dependent transcriptional regulator Hap1p limits glucose uptake by repressing the expression of the major glucose transporter gene RAG1 in Kluyveromyces lactis. Eukaryotic cell 7(11) 1895-905 [DOI  PMID]

Gerra G, Leonardi C, Cortese E, Zaimovic A, Dell'Agnello G, Manfredini M, Somaini L, Petracca F, Caretti V, Baroni C, Donnini C. (2008) Adrenocorticotropic hormone and cortisol plasma levels directly correlate with childhood neglect and depression measures in addicted patients. Addiction biology 13(1) 95-104 [DOI  PMID]

2007

Baruffini E, Ferrero I, Foury F. (2007) Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human. Biochimica et biophysica acta 1772(11-12) 1225-35 [DOI  PMID]

Baruffini E, Lodi T, Dallabona C, Foury F. (2007) A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability. Genetics 177(2) 1227-31 [DOI  PMID]

Lodi T, Diffels J, Goffeau A, Baret PV. (2007) Evolution of the carboxylate Jen transporters in fungi. FEMS yeast research 7(5) 646-56 [DOI  PMID]

Barberio C, Bianchi L, Pinzauti F, Lodi T, Ferrero I, Polsinelli M, Casalone E. (2007) Induction and characterization of morphologic mutants in a natural Saccharomyces cerevisiae strain. Canadian journal of microbiology 53(2) 223-30 [DOI  PMID]

Marchi E, Lodi T, Donnini C. (2007) KNQ1, a Kluyveromyces lactis gene encoding a transmembrane protein, may be involved in iron homeostasis. FEMS yeast research 7(5) 715-21 [DOI  PMID]

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M. (2007) Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Human molecular genetics 16(10) 1241-52 [DOI  PMID]

Goffrini P. (2007) A respiratory-deficient mutation associated with high salt sensitivity in Kluyveromyces lactis. FEMS yeast research 7(2) 180-7 [DOI  PMID]

Gerra G, Leonardi C, Cortese E, Zaimovic A, Dell'agnello G, Manfredini M, Somaini L, Petracca F, Caretti V, Saracino MA, Raggi MA, Donnini C. (2007) Homovanillic acid (HVA) plasma levels inversely correlate with attention deficit-hyperactivity and childhood neglect measures in addicted patients. Journal of neural transmission (Vienna, Austria : 1996) 114(12) 1637-47 [DOI  PMID]

Gerra G, Leonardi C, Cortese E, D'Amore A, Lucchini A, Strepparola G, Serio G, Farina G, Magnelli F, Zaimovic A, Mancini A, Turci M, Manfredini M, Donnini C. (2007) Human kappa opioid receptor gene (OPRK1) polymorphism is associated with opiate addiction. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 144B(6) 771-5 [DOI  PMID]

Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. (2007) Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. American journal of human genetics 80(1) 44-58 [DOI  PMID]

Gerra G, Zaimovic A, Garofano L, Ciusa F, Moi G, Avanzini P, Talarico E, Gardini F, Brambilla F, Manfredini M, Donnini C. (2007) Perceived parenting behavior in the childhood of cocaine users: relationship with genotype and personality traits. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 144B(1) 52-7 [DOI  PMID]

Saliola M, Scappucci G, De Maria I, Lodi T, Mancini P, Falcone C. (2007) Deletion of the glucose-6-phosphate dehydrogenase gene KlZWF1 affects both fermentative and respiratory metabolism in Kluyveromyces lactis. Eukaryotic cell 6(1) 19-27 [DOI  PMID]

2006

Baruffini E, Goffrini P, Donnini C, Lodi T. (2006) Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1. FEMS yeast research 6(8) 1235-42 [DOI  PMID]

Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M, Ferrero I. (2006) Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Human molecular genetics 15(19) 2846-55 [DOI  PMID]

 Lodi T, Bove C, Fontanesi F, Viola AM, Ferrero I. (2006) Mutation D104G in ANT1 gene: complementation study in Saccharomyces cerevisiae as a model system. Biochemical and biophysical research communications 341(3) 810-5 [DOI  PMID]

 Saliola M, De Maria I, Lodi T, Fiori A, Falcone C. (2006) KlADH3, a gene encoding a mitochondrial alcohol dehydrogenase, affects respiratory metabolism and cytochrome content in Kluyveromyces lactis. FEMS yeast research 6(8) 1184-92 [DOI  PMID]

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rotig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. (2006) MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nature genetics 38(5) 570-5 [DOI  PMID]

2005

Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M. (2005) Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Human molecular genetics 14(20) 3079-88 [DOI  PMID]

Lodi T, Neglia B, Donnini C. (2005) Secretion of human serum albumin by Kluyveromyces lactis overexpressing KlPDI1 and KlERO1. Applied and environmental microbiology 71(8) 4359-63 [DOI  PMID]

Lodi T, Donnini C. (2005) Lactose-induced cell death of beta-galactosidase mutants in Kluyveromyces lactis. FEMS yeast research 5(8) 727-34 [DOI  PMID]

Uccelletti D, Farina F, Pinton P, Goffrini P, Mancini P, Talora C, Rizzuto R, Palleschi C. (2005) The Golgi Ca2+-ATPase KlPmr1p function is required for oxidative stress response by controlling the expression of the heat-shock element HSP60 in Kluyveromyces lactis. Molecular biology of the cell 16(10) 4636-47 [DOI  PMID]

Gerra G, Garofano L, Pellegrini C, Bosari S, Zaimovic A, Moi G, Avanzini P, Talarico E, Gardini F, Donnini C. (2005) Allelic association of a dopamine transporter gene polymorphism with antisocial behaviour in heroin-dependent patients. Addiction biology 10(3) 275-81 [DOI  PMID]

Gerra G, Garofano L, Zaimovic A, Moi G, Branchi B, Bussandri M, Brambilla F, Donnini C. (2005) Association of the serotonin transporter promoter polymorphism with smoking behavior among adolescents. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 135B(1) 73-8 [DOI  PMID]

Gerra G, Garofano L, Castaldini L, Rovetto F, Zaimovic A, Moi G, Bussandri M, Branchi B, Brambilla F, Friso G, Donnini C. (2005) Serotonin transporter promoter polymorphism genotype is associated with temperament, personality traits and illegal drugs use among adolescents. Journal of neural transmission (Vienna, Austria : 1996) 112(10) 1397-410 [DOI  PMID]

2004

Lodi T, Fontanesi F, Ferrero I, Donnini C. (2004) Carboxylic acids permeases in yeast: two genes in Kluyveromyces lactis. Gene 339 111-9 [DOI  PMID]

Saliola M, Bartoccioni PC, De Maria I, Lodi T, Falcone C. (2004) The deletion of the succinate dehydrogenase gene KlSDH1 in Kluyveromyces lactis does not lead to respiratory deficiency. Eukaryotic cell 3(3) 589-97 [DOI  PMID]

Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM. (2004) Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Human molecular genetics 13(9) 923-34 [DOI  PMID]

Farina F, Uccelletti D, Goffrini P, Butow RA, Abeijon C, Palleschi C. (2004) Alterations of O-glycosylation, cell wall, and mitochondrial metabolism in Kluyveromyces lactis cells defective in KlPmr1p, the Golgi Ca(2+)-ATPase. Biochemical and biophysical research communications 318(4) 1031-8 [DOI  PMID]

Donnini C, Farina F, Neglia B, Compagno MC, Uccelletti D, Goffrini P, Palleschi C. (2004) Improved production of heterologous proteins by a glucose repression-defective mutant of Kluyveromyces lactis. Applied and environmental microbiology 70(5) 2632-8 [PMID]

Donnini C, Farina F, Neglia B, Compagno MC, Uccelletti D, Goffrini P, Palleschi C. (2004) Improved production of heterologous proteins by a glucose repression-defective mutant of Kluyveromyces lactis. Applied and environmental microbiology 70(5) 2632-8 [PMID]

Gerra G, Garofano L, Bosari S, Pellegrini C, Zaimovic A, Moi G, Bussandri M, Moi A, Brambilla F, Mameli A, Pizzamiglio M, Donnini C. (2004) Analysis of monoamine oxidase A (MAO-A) promoter polymorphism in male heroin-dependent subjects: behavioural and personality correlates. Journal of neural transmission (Vienna, Austria : 1996) 111(5) 611-21 [DOI  PMID]

Gerra G, Garofano L, Santoro G, Bosari S, Pellegrini C, Zaimovic A, Moi G, Bussandri M, Moi A, Brambilla F, Donnini C. (2004) Association between low-activity serotonin transporter genotype and heroin dependence: behavioral and personality correlates. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 126B(1) 37-42 [DOI  PMID]

2003

Alberti A, Ferrero I, Lodi T. (2003) LYS2 gene and its mutation in Kluyveromyces lactis. Yeast (Chichester, England) 20(14) 1171-5 [DOI  PMID]

Alberti A, Lodi T, Ferrero I, Donnini C. (2003) MIG1-dependent and MIG1-independent regulation of GAL gene expression in Saccharomyces cerevisiae: role of Imp2p. Yeast (Chichester, England) 20(13) 1085-96 [DOI  PMID]

2002

Lodi T, Fontanesi F, Guiard B. (2002) Co-ordinate regulation of lactate metabolism genes in yeast: the role of the lactate permease gene JEN1. Molecular genetics and genomics : MGG 266(5) 838-47 [DOI  PMID]

Goffrini P, Ferrero I, Donnini C. (2002) Respiration-dependent utilization of sugars in yeasts: a determinant role for sugar transporters. Journal of bacteriology 184(2) 427-32 [PMID]

2001

Lodi T, Saliola M, Donnini C, Goffrini P. (2001) Three target genes for the transcriptional activator Cat8p of Kluyveromyces lactis: acetyl coenzyme A synthetase genes KlACS1 and KlACS2 and lactate permease gene KlJEN1. Journal of bacteriology 183(18) 5257-61 [PMID]

Lodi T, Saliola M, Donnini C, Goffrini P. (2001) Three target genes for the transcriptional activator Cat8p of Kluyveromyces lactis: acetyl coenzyme A synthetase genes KlACS1 and KlACS2 and lactate permease gene KlJEN1. Journal of bacteriology 183(18) 5257-61 [PMID]

Betina S, Goffrini P, Ferrero I, Wesolowski-Louvel M. (2001) RAG4 gene encodes a glucose sensor in Kluyveromyces lactis. Genetics 158(2) 541-8 [PMID]

2000

Alberti A, Goffrini P, Ferrero I, Lodi T. (2000) Current awareness on yeast. Yeast (Chichester, England) 16(7) 667-74 [DOI  PMID]

Alberti A, Goffrini P, Ferrero I, Lodi T. (2000) Cloning and characterization of the lactate-specific inducible gene KlCYB2, encoding the cytochrome b(2) of Kluyveromyces lactis. Yeast (Chichester, England) 16(7) 657-65 [DOI  PMID]

Breunig KD, Bolotin-Fukuhara M, Bianchi MM, Bourgarel D, Falcone C, Ferrero I I, Frontali L, Goffrini P, Krijger JJ, Mazzoni C, Milkowski C, Steensma HY, Wesolowski-Louvel M, Zeeman AM. (2000) Regulation of primary carbon metabolism in Kluyveromyces lactis. Enzyme and microbial technology 26(9-10) 771-780 [PMID]

Alberti A, Goffrini P, Ferrero I, Lodi T. (2000) Current awareness on yeast. Yeast (Chichester, England) 16(7) 667-74 [DOI  PMID]

Alberti A, Goffrini P, Ferrero I, Lodi T. (2000) Cloning and characterization of the lactate-specific inducible gene KlCYB2, encoding the cytochrome b(2) of Kluyveromyces lactis. Yeast (Chichester, England) 16(7) 657-65 [DOI  PMID]

Fiori A, Saliola M, Goffrini P, Falcone C. (2000) Isolation and molecular characterization of KlCOX14, a gene of Kluyveromyces lactis encoding a protein necessary for the assembly of the cytochrome oxidase complex. Yeast (Chichester, England) 16(4) 307-14 [DOI  PMID]