20162020

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2020

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., 2020, In : Journal of Clinical Investigation. 130, 1, p. 108-125 18 p.

Research output: Contribution to journalArticle

2019

Mitochondrial Mass Assessment in a Selected Cell Line under Different Metabolic Conditions

Costanzini, A., Sgarbi, G., Maresca, A., Del Dotto, V., Solaini, G. & Baracca, A., Nov 18 2019, In : Cells. 8, 11, p. E1454

Research output: Contribution to journalArticle

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

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

Del Dotto, V., Fogazza, M., Musiani, F., Maresca, A., Aleo, S. J., Caporali, L., La Morgia, C., Nolli, C., Lodi, T., Goffrini, P., Chan, D., Carelli, V., Rugolo, M., Baruffini, E. & Zanna, C., Oct 1 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 10, p. 3496-3514 19 p.

Research output: Contribution to journalArticle

Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases

Strobbe, D., Caporali, L., Iommarini, L., Maresca, A., Montopoli, M., Martinuzzi, A., Achilli, A., Olivieri, A., Torroni, A., Carelli, V. & Ghelli, A., Jun 2018, In : Neurobiology of Disease. 114, p. 129-139 11 p.

Research output: Contribution to journalArticle

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Del Dotto, V., Zanna, C., Liguori, R., Barboni, P., Carbonelli, M., Cocetta, V., Montopoli, M., Martinuzzi, A., Cenacchi, G., De Michele, G., Testa, F. & 5 others, Nesti, A., Simonelli, F., Porcelli, A. M., Torroni, A. & Carelli, V., 2018, In : PLoS Genetics. 14, 2, e1007210.

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

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 2018, In : Cell Reports. 22, 8, p. 2066-2079 14 p.

Research output: Contribution to journalArticle

Validation of an easy questionnaire on the assessment of salt habit: the MINISAL-SIIA Study Program

on behalf of the MINISAL-SIIA Study Group, Jan 1 2018, (Accepted/In press) In : European Journal of Clinical Nutrition.

Research output: Contribution to journalArticle

2017

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions

Del Dotto, V., Mishra, P., Vidoni, S., Fogazza, M., Maresca, A., Caporali, L., McCaffery, J. M., Cappelletti, M., Baruffini, E., Lenaers, G., Chan, D., Rugolo, M., Carelli, V. & Zanna, C., Jun 20 2017, In : Cell Reports. 19, 12, p. 2557-2571 15 p.

Research output: Contribution to journalArticle

2016

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Cao, M., Donà, M., Valentino, M. L., Semplicini, C., Maresca, A., Cassina, M., Torraco, A., Galletta, E., Manfioli, V., Sorarù, G., Carelli, V., Stramare, R., Bertini, E., Carozzo, R., Salviati, L. & Pegoraro, E., 2016, In : Neurogenetics. 17, p. 65-70

Research output: Contribution to journalArticle

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

De Giorgio, R., Pironi, L., Rinaldi, R., Boschetti, E., Caporali, L., Capristo, M., Casali, C., Cenacchi, G., Contin, M., D'Angelo, R., D'Errico, A., Gramegna, L. L., Lodi, R., Maresca, A., Mohamed, S., Morelli, M. C., Papa, V., Tonon, C., Tugnoli, V., Carelli, V. & 2 others, D'Alessandro, R. & Pinna, A. D., Sep 1 2016, In : Annals of Neurology. 80, 3, p. 448-455 8 p.

Research output: Contribution to journalArticle