1991 …2019

Research output per year

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Research Output

2019

Arabidopsis thaliana alternative dehydrogenases: A potential therapy for mitochondrial complex i deficiency? Perspectives and pitfalls

Catania, A., Iuso, A., Bouchereau, J., Kremer, L. S., Paviolo, M., Terrile, C., Bénit, P., Rasmusson, A. G., Schwarzmayr, T., Tiranti, V., Rustin, P., Rak, M., Prokisch, H. & Schiff, M., Oct 29 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 236.

Research output: Contribution to journalArticle

Open Access

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Del Dotto, V., Ullah, F., Di Meo, I., Magini, P., Gusic, M., Maresca, A., Caporali, L., Palombo, F., Tagliavini, F., Baugh, E. H., Macao, B., Szilagyi, Z., Peron, C., Gustafson, M. A., Khan, K., La Morgia, C., Barboni, P., Carbonelli, M., Valentino, M. L., Liguori, R. & 27 others, Shashi, V., Sullivan, J., Nagaraj, S., El-Dairi, M., Iannaccone, A., Cutcutache, I., Bertini, E., Carrozzo, R., Emma, F., Diomedi-Camassei, F., Zanna, C., Armstrong, M., Page, M., Stong, N., Boesch, S., Kopajtich, R., Wortmann, S., Sperl, W., Davis, E. E., Copeland, W. C., Seri, M., Falkenberg, M., Prokisch, H., Katsanis, N., Tiranti, V., Pippucci, T. & Carelli, V., 2019, In : Journal of Clinical Investigation. 130, 1, p. 108-125 18 p.

Research output: Contribution to journalArticle

2018

Classification and molecular pathogenesis of NBIA syndromes

Di Meo, I. & Tiranti, V., Mar 1 2018, In : European Journal of Paediatric Neurology. 22, 2, p. 272-284 13 p.

Research output: Contribution to journalReview article

Inborn errors of coenzyme A metabolism and neurodegeneration

Di Meo, I., Carecchio, M. & Tiranti, V., May 16 2018, (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-7 7 p.

Research output: Contribution to journalArticle

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models

Iannielli, A., Bido, S., Folladori, L., Segnali, A., Cancellieri, C., Maresca, A., Massimino, L., Rubio, A., Morabito, G., Caporali, L., Tagliavini, F., Musumeci, O., Gregato, G., Bezard, E., Carelli, V., Tiranti, V. & Broccoli, V., Feb 20 2018, In : Cell Reports. 22, 8, p. 2094-2106 13 p.

Research output: Contribution to journalArticle

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy

Boyer, M., Sowa, M., Di Meo, I., Eftekharian, S., Steenari, M. R., Tiranti, V. & Abdenur, J. E., May 1 2018, In : Molecular Genetics and Metabolism. 124, 1, p. 57-63 7 p.

Research output: Contribution to journalArticle

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

Quadalti, C., Brunetti, D., Lagutina, I., Duchi, R., Perota, A., Lazzari, G., Cerutti, R., Di Meo, I., Johnson, M., Bottani, E., Crociara, P., Corona, C., Grifoni, S., Tiranti, V., Fernandez-Vizarra, E., Robinson, A. J., Viscomi, C., Casalone, C., Zeviani, M. & Galli, C., Jun 1 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 6, p. 2131-2142 12 p.

Research output: Contribution to journalArticle

2017

Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

Di Meo, I., Colombelli, C., Srinivasan, B., De Villiers, M., Hamada, J., Jeong, S. Y., Fox, R., Woltjer, R. L., Tepper, P. G., Lahaye, L. L., Rizzetto, E., Harrs, C. H., De Boer, T., Van Der Zwaag, M., Jenko, B., Čusak, A., Pahor, J., Kosec, G., Grzeschik, N. A., Hayflick, S. J. & 2 others, Tiranti, V. & Sibon, O. C. M., Dec 1 2017, In : Scientific Reports. 7, 1, 11260.

Research output: Contribution to journalArticle

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN

Aoun, M., Corsetto, P. A., Nugue, G., Montorfano, G., Ciusani, E., Crouzier, D., Hogarth, P., Gregory, A., Hayflick, S., Zorzi, G., Rizzo, A. M. & Tiranti, V., Jun 1 2017, In : Molecular Genetics and Metabolism. 121, 2, p. 180-189 10 p.

Research output: Contribution to journalArticle

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

Ziosi, M., Di Meo, I., Kleiner, G., Gao, X. H., Barca, E., Sanchez-Quintero, M. J., Tadesse, S., Jiang, H., Qiao, C., Rodenburg, R. J., Scalais, E., Schuelke, M., Willard, B., Hatzoglou, M., Tiranti, V. & Quinzii, C. M., Jan 1 2017, In : EMBO Molecular Medicine. 9, 1, p. 96-111 16 p.

Research output: Contribution to journalArticle

Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., Koňaříkova, E., Repp, B., Kastenmüller, G., Adamski, J., Lichtner, P., Leonhardt, C., Funalot, B., Donati, A., Tiranti, V., Lombes, A. & 12 others, Jardel, C., Gläser, D., Taylor, R. W., Ghezzi, D., Mayr, J. A., Rötig, A., Freisinger, P., Distelmaier, F., Strom, T. M., Meitinger, T., Gagneur, J. & Prokisch, H., Jun 12 2017, In : Nature Communications. 8, 15824.

Research output: Contribution to journalArticle

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

Vidoni, S., Harbour, M. E., Guerrero-Castillo, S., Signes, A., Ding, S., Fearnley, I. M., Taylor, R. W., Tiranti, V., Arnold, S., Fernandez-Vizarra, E. & Zeviani, M., Feb 14 2017, In : Cell Reports. 18, 7, p. 1727-1738 12 p.

Research output: Contribution to journalArticle

Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization

Girolimetti, G., Guerra, F., Iommarini, L., Kurelac, I., Vergara, D., Maffia, M., Vidone, M., Amato, L. B., Leone, G., Dusi, S., Tiranti, V., Perrone, A. M., Bucci, C., Porcelli, A. M. & Gasparre, G., Aug 1 2017, In : Human Molecular Genetics. 26, 15, p. 2961-2974 14 p.

Research output: Contribution to journalArticle

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation

Carecchio, M., Picillo, M., Valletta, L., Elia, A. E., Haack, T. B., Cozzolino, A., Vitale, A., Garavaglia, B., Iuso, A., Bagella, C. F., Pappatà, S., Barone, P., Prokisch, H., Romito, L. & Tiranti, V., Jul 1 2017, In : Neurogenetics. 18, 3, p. 175-178 4 p.

Research output: Contribution to journalArticle

2016

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

Orellana, D., Santambrogio, P., Rubio, A., Yekhlef, L., Cancellieri, C., Dusi, S., Giannelli, S. G., Venco, P., Mazzara, P. G., Cozzi, A., Ferrari, M., Garavaglia, B., Taverna, S., Tiranti, V. S., Broccoli, V. & Levi, S., Oct 1 2016, In : EMBO Molecular Medicine. 8, 10, p. 1197-1211 15 p.

Research output: Contribution to journalArticle

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

Orellana Riquelme, D. I., Santambrogio, P., Rubio, A., Yekhlef, L., Cancellieri, C., Dusi, S., Giannelli, S. G., Venco, P., Mazzara, P. G., Cozzi, A., Ferrari, M., Garavaglia, B., Taverna, S., Tiranti, V., Broccoli, V. & Levi, S., Oct 1 2016, In : EMBO Molecular Medicine. 8, 10, p. 1197-1211 15 p.

Research output: Contribution to journalArticle

Liver transplant in ethylmalonic encephalopathy: A new treatment for an otherwise fatal disease

Dionisi-Vici, C., Diodato, D., Torre, G., Picca, S., Pariante, R., Giuseppe Picardo, S., Di Meo, I., Rizzo, C., Tiranti, V., Zeviani, M. & De Goyet, J. D. V., Apr 1 2016, In : Brain. 139, 4, p. 1045-1051 7 p.

Research output: Contribution to journalArticle

Liver transplant in ethylmalonic encephalopathy: A new treatment for an otherwise fatal disease

Dionisi Vici, C., Diodato, D., Torre, G., Picca, S., Pariante, R., Giuseppe Picardo, S., Di Meo, I., Rizzo, C., Tiranti, V. S., Zeviani, M. & De Goyet, J. D. V., Apr 1 2016, In : Brain. 139, 4, p. 1045-1051 7 p.

Research output: Contribution to journalArticle

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., Gregory, A., Sanford, L., Kara, E., Houlden, H., Cuno, S. M., Prokisch, H., Valletta, L., Tiranti, V. & 20 others, Younis, R., Maher, E. R., Spencer, J., Straatman-Iwanowska, A., Gissen, P., Selim, L. A. M., Pintos-Morell, G., Coroleu-Lletget, W., Mohammad, S. S., Yoganathan, S., Dale, R. C., Thomas, M., Rihel, J., Bodamer, O. A., Enns, C. A., Hayflick, S. J., Clayton, P. T., Mills, P. B., Kurian, M. A. & Wilson, S. W., May 27 2016, In : Nature Communications. 7, 11601.

Research output: Contribution to journalArticle

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Legati, A., Reyes, A., Nasca, A., Invernizzi, F., Lamantea, E., Tiranti, V., Garavaglia, B., Lamperti, C., Ardissone, A., Moroni, I., Robinson, A., Ghezzi, D. & Zeviani, M., 2016, In : Biochimica et Biophysica Acta - Bioenergetics.

Research output: Contribution to journalArticle

Reduced mitochondrial Ca 2+ transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase

Granatiero, V., Giorgio, V., Calì, T., Patron, M., Brini, M., Bernardi, P., Tiranti, V., Zeviani, M., Pallafacchina, G., De Stefani, D. & Rizzuto, R., Feb 1 2016, In : Cell Death and Differentiation. 23, 2, p. 231-241 11 p.

Research output: Contribution to journalArticle

2015

Extracellular 4′-phosphopantetheine is a source for intracellular coenzyme A synthesis

Srinivasan, B., Baratashvili, M., Van Der Zwaag, M., Kanon, B., Colombelli, C., Lambrechts, R. A., Schaap, O., Nollen, E. A., Podgoršek, A., Kosec, G., Petković, H., Hayflick, S., Tiranti, V., Reijngoud, D. J., Grzeschik, N. A. & Sibon, O. C. M., Aug 31 2015, In : Nature Chemical Biology. 11, 10, p. 784-792 9 p., 1906.

Research output: Contribution to journalArticle

Mitochondrial diseases caused by toxic compound accumulation: From etiopathology to therapeutic approaches

Di Meo, I., Lamperti, C. & Tiranti, V., Oct 1 2015, In : EMBO Molecular Medicine. 7, 10, p. 1257-1266 10 p.

Research output: Contribution to journalArticle

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

Santambrogio, P., Dusi, S., Guaraldo, M., Rotundo, L. I., Broccoli, V., Garavaglia, B., Tiranti, V. & Levi, S., Sep 1 2015, In : Neurobiology of Disease. 81, p. 144-153 10 p.

Research output: Contribution to journalArticle

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+

Venco, P., Bonora, M., Giorgi, C., Papaleo, E., Iuso, A., Prokisch, H., Pinton, P. & Tiranti, V., 2015, In : Frontiers in Genetics. 6, MAY, 185.

Research output: Contribution to journalArticle

2014

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes

Venco, P., Dusi, S., Valletta, L. & Tiranti, V., 2014, In : Biochemical Society Transactions. 42, 4, p. 1069-1074 6 p.

Research output: Contribution to journalArticle

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron

Colombelli, C., Aoun, M. & Tiranti, V., 2014, In : Journal of Inherited Metabolic Disease. 38, 1, p. 123-136 14 p.

Research output: Contribution to journalArticle

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre

Henriques, B. J., Lucas, T. G., Rodrigues, J. V., Frederiksen, J. H., Teixeira, M. S., Tiranti, V., Bross, P. & Gomes, C. M., Sep 8 2014, In : PLoS One. 9, 9, e107157.

Research output: Contribution to journalArticle

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

Dusi, S., Valletta, L., Haack, T. B., Tsuchiya, Y., Venco, P., Pasqualato, S., Goffrini, P., Tigano, M., Demchenko, N., Wieland, T., Schwarzmayr, T., Strom, T. M., Invernizzi, F., Garavaglia, B., Gregory, A., Sanford, L., Hamada, J., Bettencourt, C., Houlden, H., Chiapparini, L. & 7 others, Zorzi, G., Kurian, M. A., Nardocci, N., Prokisch, H., Hayflick, S., Gout, I. & Tiranti, V., Jan 2 2014, In : American Journal of Human Genetics. 94, 1, p. 11-22 12 p.

Research output: Contribution to journalArticle

Modeling PKAN in Mice and Flies

Sibon, O., Hayflick, S. & Tiranti, V., Oct 29 2014, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 905-913 9 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

Brunetti, D., Dusi, S., Giordano, C., Lamperti, C., Morbin, M., Fugnanesi, V., Marchet, S., Fagiolari, G., Sibon, O., Moggio, M., D'Amati, G. & Tiranti, V., 2014, In : Brain. 137, 1, p. 57-68 12 p.

Research output: Contribution to journalArticle

The mitochondrial aminoacyl tRNA synthetases: Genes and syndromes

Diodato, D., Ghezzi, D. & Tiranti, V., 2014, In : International Journal of Cell Biology. 787956.

Research output: Contribution to journalArticle

2013

Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.

Tiranti, V. & Zeviani, M., Jan 2013, In : Cold Spring Harbor perspectives in biology. 5, 1

Research output: Contribution to journalArticle

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

Rodenburg, R. J. T., Schoonderwoerd, G. C., Tiranti, V., Taylor, R. W., Rötig, A., Valente, L., Invernizzi, F., Chretien, D., He, L., Backx, G. P. B. M., Janssen, K. J. G. M., Chinnery, P. F., Smeets, H. J., de Coo, I. F. & van den Heuvel, L. P., Jan 2013, In : Mitochondrion. 13, 1, p. 36-43 8 p.

Research output: Contribution to journalArticle

2012

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

Panteghini, C., Zorzi, G., Venco, P., Dusi, S., Reale, C., Brunetti, D., Chiapparini, L., Zibordi, F., Siegel, B., Garavaglia, B., Simonati, A., Bertini, E., Nardocci, N. & Tiranti, V., Jun 2012, In : Seminars in Pediatric Neurology. 19, 2, p. 75-81 7 p.

Research output: Contribution to journalArticle

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Leoni, V., Strittmatter, L., Zorzi, G., Zibordi, F., Dusi, S., Garavaglia, B., Venco, P., Caccia, C., Souza, A. L., Deik, A., Clish, C. B., Rimoldi, M., Ciusani, E., Bertini, E., Nardocci, N., Mootha, V. K. & Tiranti, V., Mar 2012, In : Molecular Genetics and Metabolism. 105, 3, p. 463-471 9 p.

Research output: Contribution to journalArticle

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

Invernizzi, F., D'Amato, I., Jensen, P. B., Ravaglia, S., Zeviani, M. & Tiranti, V., Mar 2012, In : Mitochondrion. 12, 2, p. 328-335 8 p.

Research output: Contribution to journalArticle

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

Giordano, C., Viscomi, C., Orlandi, M., Papoff, P., Spalice, A., Burlina, A., Di Meo, I., Tiranti, V., Leuzzi, V., D'Amati, G. & Zeviani, M., May 2012, In : Journal of Inherited Metabolic Disease. 35, 3, p. 451-458 8 p.

Research output: Contribution to journalArticle

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Haack, T. B., Madignier, F., Herzer, M., Lamantea, E., Danhauser, K., Invernizzi, F., Koch, J., Freitag, M., Drost, R., Hillier, I., Haberberger, B., Mayr, J. A., Ahting, U., Tiranti, V., Rötig, A., Iuso, A., Horvath, R., Tesarova, M., Baric, I., Uziel, G. & 6 others, Rolinski, B., Sperl, W., Meitinger, T., Zeviani, M., Freisinger, P. & Prokisch, H., Feb 2012, In : Journal of Medical Genetics. 49, 2, p. 83-89 7 p.

Research output: Contribution to journalArticle

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

Indrieri, A., Van Rahden, V. A., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Zvulunov, A., Kutsche, K., Zeviani, M. & Franco, B., Nov 2 2012, In : American Journal of Human Genetics. 91, 5, p. 942-949 8 p.

Research output: Contribution to journalArticle

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in pank2 knock-out mouse model

Brunetti, D., Dusi, S., Morbin, M., Uggetti, A., Moda, F., D'Amato, I., Giordano, C., d'Amati, G., Cozzi, A., Levi, S., Hayflick, S. & Tiranti, V., Dec 2012, In : Human Molecular Genetics. 21, 24, p. 5294-5305 12 p., dds380.

Research output: Contribution to journalArticle

Transcriptional requirements of the distal heavy-strand promoter of mtDNA

Zollo, O., Tiranti, V. & Sondheimer, N., Apr 24 2012, In : Proceedings of the National Academy of Sciences of the United States of America. 109, 17, p. 6508-6512 5 p.

Research output: Contribution to journalArticle

2011

Absence of an orphan mitochondrial protein, C19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

Hartig, M. B., Iuso, A., Haack, T., Kmiec, T., Jurkiewicz, E., Heim, K., Roeber, S., Tarabin, V., Dusi, S., Krajewska-Walasek, M., Jozwiak, S., Hempel, M., Winkelmann, J., Elstner, M., Oexle, K., Klopstock, T., Mueller-Felber, W., Gasser, T., Trenkwalder, C., Tiranti, V. & 5 others, Kretzschmar, H., Schmitz, G., Strom, T. M., Meitinger, T. & Prokisch, H., Oct 7 2011, In : American Journal of Human Genetics. 89, 4, p. 543-550 8 p.

Research output: Contribution to journalArticle

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria

Kawamata, H., Tiranti, V., Magrané, J., Chinopoulos, C. & Manfredi, G., Aug 2011, In : Human Molecular Genetics. 20, 15, p. 2964-2974 11 p., ddr200.

Research output: Contribution to journalArticle

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

Di Meo, I., Fagiolari, G., Prelle, A., Viscomi, C., Zeviani, M. & Tiranti, V., Jul 15 2011, In : Antioxidants and Redox Signaling. 15, 2, p. 353-362 10 p.

Research output: Contribution to journalArticle

Ethylmalonic encephalopathy: Application of improved biochemical and molecular diagnostic approaches

Drousiotou, A., Dimeo, I., Mineri, R., Georgiou, T., Stylianidou, G. & Tiranti, V., Apr 2011, In : Clinical Genetics. 79, 4, p. 385-390 6 p.

Research output: Contribution to journalArticle

2010

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

Viscomi, C., Burlina, A. B., Dweikat, I., Savoiardo, M., Lamperti, C., Hildebrandt, T., Tiranti, V. & Zeviani, M., Aug 2010, In : Nature Medicine. 16, 8, p. 869-871 3 p.

Research output: Contribution to journalArticle

2009

Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects

Fernández-Vizarra, E., Tiranti, V. & Zeviani, M., Jan 2009, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1793, 1, p. 200-211 12 p.

Research output: Contribution to journalArticle

How do human cells react to the absence of mitochondrial DNA?

Mineri, R., Pavelka, N., Fernandez-Vizarra, E., Ricciardi-Castagnoli, P., Zeviani, M. & Tiranti, V., May 28 2009, In : PLoS One. 4, 5, e5713.

Research output: Contribution to journalArticle