Prof.ssa Paola Goffrini


Professore a contratto

Pubblicazioni selezionate

Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Berti CC, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schols L, Shalev S, Khayat M, Mahajnah M, Spiegel R. (2018) Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. Journal of inherited metabolic disease [DOI  PMID]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

Berti CC, Dallabona C, Lazzaretti M, Dusi S, Tosi E, Tiranti V, Goffrini P. (2015) Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism. Microbial cell (Graz, Austria) 2(4) 126-135 [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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]


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