A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.

Authors: Sala, Daniele¹ (AUTHOR), Marchet, Silvia¹ (AUTHOR), Nanetti, Lorenzo¹ (AUTHOR), Legati, Andrea¹ (AUTHOR), Mariotti, Caterina¹ (AUTHOR), Lamantea, Eleonora¹ (AUTHOR), Ghezzi, Daniele^1,2 (AUTHOR), Catania, Alessia¹ (AUTHOR), Lamperti, Costanza¹ (AUTHOR) costanza.lamperti@istituto-besta.it

Source: Orphanet Journal of Rare Diseases. 5/16/2024, Vol. 19 Issue 1, p1-9. 9p.

Subject Terms: *MITOCHONDRIAL DNA, *ATAXIA, *ADENOSINE triphosphatase, *CEREBELLAR ataxia, *MILD cognitive impairment, *MITOCHONDRIAL membranes

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

Authors: Marchet, Silvia, Legati, Andrea, Nasca, Alessia, Di Meo, Ivano, Spagnolo, Manuela, Zanetti, Nadia, Lamantea, Eleonora, Catania, Alessia, Lamperti, Costanza, Ghezzi, Daniele

Source: Human mutation. 41(10):1745-1750

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107541010.0x000001&indx=1&recIds=ETOCvdc_100107541010.0x000001

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.

Authors: Berti, Beatrice, Verrigni, Daniela, Nasca, Alessia, Di Nottia, Michela, Leone, Daniela, Torraco, Alessandra, Rizza, Teresa, Bellacchio, Emanuele, Legati, Andrea, Palermo, Concetta, Marchet, Silvia, Lamperti, Costanza, Novelli, Antonio, Mercuri, Eugenio Maria, Bertini, Enrico Silvio, Pane, Marika, Ghezzi, Daniele, Carrozzo, Rosalba

Source: International Journal of Molecular Sciences; Jul2024, Vol. 25 Issue 14, p7782, 9p

Subject Terms: MITOCHONDRIAL dynamics, CELL respiration, BRAIN diseases, GENETIC variation, CARDIOMYOPATHIES, FAMILIAL spastic paraplegia, RESPIRATION in plants, HEART, SUDDEN death

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Authors: Marchet, Silvia, Invernizzi, Federica, Blasevich, Flavia, Bruno, Valentina, Dusi, Sabrina, Venco, Paola, Fiorillo, Chiara, Baranello, Giovanni, Pallotti, Francesco, Lamantea, Eleonora, Mora, Marina, Tiranti, Valeria, Lamperti, Costanza

Source: MITOCHONDRION -AMSTERDAM. 47:24-29

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100092534507.0x000001&indx=1&recIds=ETOCvdc_100092534507.0x000001

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

Authors: Catania, Alessia, Legati, Andrea, Peverelli, Lorenzo, Nanetti, Lorenzo, Marchet, Silvia, Zanetti, Nadia, Lamperti, Costanza, Ghezzi, Daniele

Source: American journal of medical genetics.Part A. 179(5):827-831

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100090521775.0x000001&indx=1&recIds=ETOCvdc_100090521775.0x000001

Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy

Authors: Verrigni, Daniela, Di Nottia, Michela, Ardissone, Anna, Baruffini, Enrico, Nasca, Alessia, Legati, Andrea, Bellacchio, Emanuele, Fagiolari, Gigliola, Martinelli, Diego, Fusco, Lucia, Battaglia, Domenica, Trani, Giulia, Versienti, Gianmarco, Marchet, Silvia, Torraco, Alessandra, Rizza, Teresa, Verardo, Margherita, D'Amico, Adele, Diodato, Daria, Moroni, Isabella, Lamperti, Costanza, Petrini, Stefania, Moggio, Maurizio, Goffrini, Paola, Ghezzi, Daniele, Carrozzo, Rosalba, Bertini, Enrico

Source: Human mutation. 40(5):601-618

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100090565328.0x000001&indx=1&recIds=ETOCvdc_100090565328.0x000001

Transcription Factor EB Controls Metabolic Flexibility during Exercise

Authors: Mansueto, Gelsomina, Armani, Andrea, Viscomi, Carlo, D’Orsi, Luca, De Cegli, Rossella, Polishchuk, Elena V., Lamperti, Costanza, Di Meo, Ivano, Romanello, Vanina, Marchet, Silvia, Saha, Pradip K., Zong, Haihong, Blaauw, Bert, Solagna, Francesca, Tezze, Caterina, Grumati, Paolo, Bonaldo, Paolo, Pessin, Jeffrey E., Zeviani, Massimo, Sandri, Marco, Ballabio, Andrea

Source: In Cell Metabolism 10 January 2017 25(1):182-196

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

Authors: Civiletto, Gabriele, Varanita, Tatiana, Cerutti, Raffaele, Gorletta, Tatiana, Barbaro, Serena, Marchet, Silvia, Lamperti, Costanza, Viscomi, Carlo, Scorrano, Luca, Zeviani, Massimo

Source: In Cell Metabolism 2 June 2015 21(6):845-854

Interaction between NMDA glutamatergic and nitrergic enteric pathways during in vitro ischemia and reperfusion

Authors: Filpa, Viviana, Carpanese, Elisa, Marchet, Silvia, Prandoni, Valeria, Moro, Elisabetta, Lecchini, Sergio, Frigo, Gianmario, Giaroni, Cristina, Crema, Francesca

Source: In European Journal of Pharmacology 5 March 2015 750:123-131

AAV-mediated Liver-specific MPV17 Expression Restores mtDNA Levels and Prevents Diet-induced Liver Failure

Authors: Bottani, Emanuela, Giordano, Carla, Civiletto, Gabriele, Di Meo, Ivano, Auricchio, Alberto, Ciusani, Emilio, Marchet, Silvia, Lamperti, Costanza, d'Amati, Giulia, Viscomi, Carlo, Zeviani, Massimo

Source: In Molecular Therapy January 2014 22(1):10-17

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.

Authors: Baglivo, Mirko, Nasca, Alessia, Lamantea, Eleonora, Vinci, Stefano, Spagnolo, Manuela, Marchet, Silvia, Prokisch, Holger, Catania, Alessia, Lamperti, Costanza, Ghezzi, Daniele

Source: International Journal of Molecular Sciences; Aug2023, Vol. 24 Issue 16, p12580, 11p

Subject Terms: CELL respiration, MITOCHONDRIA, MITOCHONDRIAL DNA, NEUROPATHY, FIBROBLASTS, PROGNOSIS, THERAPEUTICS

Response to: 'Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number'

Authors: Lamperti, Costanza, Marchet, Silvia, Legati, Andrea, Ghezzi, Daniele

Source: Human mutation. 41(11):2014-2015

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100109060651.0x000001&indx=1&recIds=ETOCvdc_100109060651.0x000001

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.

Authors: Peverelli, Lorenzo, Catania, Alessia, Marchet, Silvia, Ciasca, Paola, Cammarata, Gabriella, Melzi, Lisa, Bellino, Antonella, Fancellu, Roberto, Lamantea, Eleonora, Capristo, Mariantonietta, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Ghezzi, Daniele, Bianchi Marzoli, Stefania, Lamperti, Costanza

Source: Frontiers in Neurology; 6/9/2021, Vol. 12, p1-8, 8p

Subject Terms: MITOCHONDRIAL DNA, CELL respiration, NEUROPATHY, MISSENSE mutation, LEBER'S hereditary optic atrophy, PATIENT-family relations

Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice.

Authors: Brunetti, Dario, Bottani, Emanuela, Segala, Agnese, Marchet, Silvia, Rossi, Fabio, Orlando, Fiorenza, Malavolta, Marco, Carruba, Michele O., Lamperti, Costanza, Provinciali, Mauro, Nisoli, Enzo, Valerio, Alessandra

Source: Frontiers in Pharmacology; 7/31/2020, Vol. 11, pN.PAG-N.PAG, 16p

Subject Terms: PEROXISOME proliferator-activated receptors, PLANT mitochondria, KREBS cycle, AMYLOID beta-protein precursor, ESSENTIAL amino acids, ELEMENTAL diet, MICE

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Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Authors: Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo

Source: In The American Journal of Human Genetics 4 September 2014 95(3):315-325

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

Authors: Cerutti, Raffaele, Pirinen, Eija, Lamperti, Costanza, Marchet, Silvia, Sauve, Anthony A., Li, Wei, Leoni, Valerio, Schon, Eric A., Dantzer, Françoise, Auwerx, Johan, Viscomi, Carlo, Zeviani, Massimo

Source: In Cell Metabolism 3 June 2014 19(6):1042-1049

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