DESBATS, MARIA ANDREA
DESBATS, MARIA ANDREA
Dipartimento di Salute della Donna e del Bambino - SDB
Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency
2025 Alcázar-Fabra, María; Østergaard, Elsebet; Fernández-Ayala, Daniel J. M.; Desbats, Maria Andrea; Morbidoni, Valeria; Tomás-Gallado, Laura; García-Corzo, Laura; Blanquer-Roselló, María del Mar; Bartlett, Abigail K.; Sánchez-Cuesta, Ana; Sena, Lucía; Cortés-Rodríguez, Ana; Cascajo-Almenara, María Victoria; Pagliarini, David J.; Trevisson, Eva; Gronborg, Sabine W.; Brea-Calvo, Gloria
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms
2024 Calderan, Cristina; Sorrentino, Ugo; Persano, Luca; Trevisson, Eva; Sartori, Geppo; Salviati, Leonardo; Desbats, Maria Andrea
Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
2024 Sorrentino, Ugo; Baschiera, Elisa; Desbats, Maria Andrea; Zuffardi, Orsetta; Salviati, Leonardo; Cassina, Matteo
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells
2024 Pelosi, Ludovic; Morbiato, Laura; Burgardt, Arthur; Tonello, Fiorella; Bartlett, Abigail K.; Guerra, Rachel M.; Kazemzadeh Ferizhendi, Katayoun; Desbats, MARIA ANDREA; Rascalou, Bérengère; Marchi, Marco; Vázquez-Fonseca, Luis; Agosto, Caterina; Zanotti, Giuseppe; Roger-Margueritat, Morgane; Alcázar-Fabra, María; García-Corzo, Laura; Sánchez-Cuesta, Ana; Navas, Plácido; Brea-Calvo, Gloria; Trevisson, Eva; Wendisch, Volker F.; Pagliarini, David J.; Salviati, Leonardo; Pierrel, Fabien
Retinoic acid receptor activation reprograms senescence response and enhances anti-tumor activity of natural killer cells
2024 Colucci, Manuel; Zumerle, Sara; Bressan, Silvia; Gianfanti, Federico; Troiani, Martina; Valdata, Aurora; D’Ambrosio, Mariantonietta; Pasquini, Emiliano; Varesi, Angelica; Cogo, Francesca; Mosole, Simone; Dongilli, Cristina; Desbats, Maria Andrea; Contu, Liliana; Revankdar, Ajinkya; Chen, Jingjing; Kalathur, Madhuri; Perciato, Maria Luna; Basilotta, Rossella; Endre, Laczko; Schauer, Stefan; Othman, Alaa; Guccini, Ilaria; Saponaro, Miriam; Maraccani, Luisa; Bancaro, Nicolò; Lai, Ping; Liu, Lei; Pernigoni, Nicolò; Mele, Federico; Merler, Sara; Trotman, Lloyd C.; Guarda, Greta; Calì, Bianca; Montopoli, Monica; Alimonti, Andrea
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle
2023 Marchioretti, Caterina; Zanetti, Giulia; Pirazzini, Marco; Gherardi, Gaia; Nogara, Leonardo; Andreotti, Roberta; Martini, Paolo; Marcucci, Lorenzo; Canato, Marta; R Nath, Samir; Zuccaro, Emanuela; Chivet, Mathilde; Mammucari, Cristina; Pacifici, Marco; Raffaello, Anna; Rizzuto, Rosario; Mattarei, Andrea; Desbats, MARIA ANDREA; Salviati, Leonardo; Megighian, Aram; Sorarù, Gianni; Pegoraro, Elena; Belluzzi, Elisa; Pozzuoli, Assunta; Biz, Carlo; Ruggieri, Pietro; Romualdi, Chiara; P Lieberman, Andrew; J Babu, Gopal; Sandri, Marco; Blaauw, Bert; Basso, Manuela; Pennuto, Maria
Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants
2023 Desbats, Maria Andrea; Salviati, Leonardo
OPA1 drives macrophage metabolism and functional commitment via p65 signaling
2022 Sánchez-Rodríguez, Ricardo; Tezze, Caterina; Agnellini, Andrielly H R; Angioni, Roberta; VENEGAS CELEDON, FRANCISCA CAROLINA; Cioccarelli, Chiara; Munari, Fabio; Bertoldi, Nicole; Canton, Marcella; Desbats, Maria Andrea; Salviati, Leonardo; Gissi, Rosanna; Castegna, Alessandra; Soriano, Maria Eugenia; Sandri, Marco; Scorrano, Luca; Viola, Antonella; Molon, Barbara
Cholesterol Metabolic Reprogramming in Cancer and Its Pharmacological Modulation as Therapeutic Strategy
2021 Giacomini, Isabella; Gianfanti, Federico; Desbats, MARIA ANDREA; Orso, Genny; Berretta, Massimiliano; Prayer-Galetti, Tommaso; Ragazzi, Eugenio; Cocetta, Veronica
Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects
2021 Montioli, R.; Bellezza, I.; Desbats, M. A.; Borri Voltattorni, C.; Salviati, L.; Cellini, B.
Epiregulation of the SASP makes good neighbors
2021 Desbats, Maria Andrea; Zumerle, Sara; Alimonti, Andrea
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants
2021 Morbidoni, V.; Baschiera, E.; Forzan, M.; Fumini, V.; Ali, D. S.; Giorgi, G.; Buson, L.; Desbats, M. A.; Cassina, M.; Clementi, M.; Salviati, L.; Trevisson, E.
Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina
2021 Montioli, R.; Sgaravizzi, G.; Desbats, M. A.; Grottelli, S.; Voltattorni, C. B.; Salviati, L.; Cellini, B.
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
2021 Mero, S.; Salviati, L.; Leuzzi, V.; Rubegni, A.; Calderan, C.; Nardecchia, F.; Galatolo, D.; Desbats, M. A.; Naef, V.; Gemignani, F.; Novelli, M.; Tessa, A.; Battini, R.; Santorelli, F. M.; Marchese, M.
The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency
2021 Baschiera, E.; Sorrentino, U.; Calderan, C.; Desbats, M. A.; Salviati, L.
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model
2021 Matte, A.; Federti, E.; Kung, C.; Kosinski, P. A.; Narayanaswamy, R.; Russo, R.; Federico, G.; Carlomagno, F.; Desbats, M. A.; Salviati, L.; Leboeuf, C.; Valenti, M. T.; Turrini, F.; Janin, A.; Yu, S.; Beneduce, E.; Ronseaux, S.; Iatcenko, I.; Dang, L.; Ganz, T.; Jung, C. -L.; Iolascon, A.; Brugnara, C.; De Franceschi, L.
Metabolic Plasticity in Chemotherapy Resistance
2020 Desbats, MARIA ANDREA; Giacomini, Isabella; Prayer-Galetti, Tommaso; Montopoli, Monica
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass
2019 Favaro, Giulia; Romanello, Vanina; Varanita, Tatiana; Desbats, MARIA ANDREA; Morbidoni, Valeria; Tezze, Caterina; Albiero, Mattia; Canato, Marta; Gherardi, Gaia; DE STEFANI, Diego; Mammucari, Cristina; Blaauw, Bert; Boncompagni, Simona; Protasi, Feliciano; Reggiani, Carlo; Scorrano, Luca; Salviati, Leonardo; Sandri, Marco
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6
2019 Acosta Lopez, M. J.; Trevisson, E.; Canton, M.; Vazquez-Fonseca, L.; Morbidoni, V.; Baschiera, E.; Frasson, C.; Pelosi, L.; Rascalou, B.; Desbats, M. A.; Alcazar-Fabra, M.; Rios, J. J.; Sanchez-Garcia, A.; Basso, G.; Navas, P.; Pierrel, F.; Brea-Calvo, G.; Salviati, L.
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2
2018 Cerqua, Cristina; Morbidoni, Valeria; Desbats, Maria Andrea; Doimo, Mara; Frasson, Chiara; Sacconi, Sabrina; Baldoin, MARIA CRISTINA; Sartori, Geppo; Basso, Giuseppe; Salviati, Leonardo; Trevisson, Eva