DESBATS, MARIA ANDREA
DESBATS, MARIA ANDREA
Dipartimento di Salute della Donna e del Bambino - SDB
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
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence
2017 Tezze, Caterina; Romanello, Vanina; Desbats, MARIA ANDREA; Fadini, GIAN PAOLO; Albiero, Mattia; Favaro, Giulia; Ciciliot, Stefano; SORIANO GARCIA - CUERVA, MARIA EUGENIA; Morbidoni, Valeria; Cerqua, Cristina; Loefler, Stefan; Kern, Helmut; Franceschi, Claudio; Salvioli, Stefano; Conte, Maria; Blaauw, Bert; Zampieri, Sandra; Salviati, Leonardo; Scorrano, Luca; Sandri, Marco
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
Coenzyme Q biosynthesis in health and disease
2016 Acosta, Manuel Jesús; Vazquez Fonseca, Luis; Desbats, MARIA ANDREA; Cerqua, Cristina; Zordan, Roberta; Trevisson, Eva; Salviati, Leonardo
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
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
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
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.
Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants
2023 Desbats, Maria Andrea; Salviati, Leonardo
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
Epiregulation of the SASP makes good neighbors
2021 Desbats, Maria Andrea; Zumerle, Sara; Alimonti, Andrea
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.
2013 Doimo, Mara; Desbats, Ma; Baldoin, Mc; Lenzini, E; Basso, Giuseppe; Murphy, E; Graziano, C; Seri, M; Burlina, A; Sartori, Geppo; Trevisson, Eva; Salviati, Leonardo
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
2014 Desbats, MARIA ANDREA; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo
Genetics of coenzyme q10 deficiency.
2014 Doimo, Mara; Desbats, MARIA ANDREA; Cerqua, C; Cassina, Matteo; Trevisson, Eva; Salviati, Leonardo
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency
2012 Salviati, Leonardo; Trevisson, Eva; Rodriguez Hernandez, Ma; Casarin, Alberto; Pertegato, V; Doimo, Mara; Cassina, Matteo; Agosto, C; Desbats, Ma; Sartori, Geppo; Sacconi, S; Memo, L; Zuffardi, O; Artuch, R; Quinzii, C; Dimauro, S; Hirano, M; Santos Ocana, C; Navas, P.
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.
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients
2017 Borgia, Doriana; Malena, Adriana; Spinazzi, Marco; Andrea Desbats, Maria; Salviati, Leonardo; Russell, Aaron P; Miotto, Giovanni; Tosatto, Laura; Pegoraro, Elena; Sorarù, Gianni; Pennuto, Maria; Vergani, Lodovica; Miotto, Giovanni
Mammalian Staufen 1 is recruited to stress granules and impairs their assembly
2009 Thomas, María Gabriela; Martinez Tosar, Leandro J; Desbats, Maria Andrea; Leishman, Claudia C; Boccaccio, Graciela L
Metabolic Plasticity in Chemotherapy Resistance
2020 Desbats, MARIA ANDREA; Giacomini, Isabella; Prayer-Galetti, Tommaso; Montopoli, Monica
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina
2018 Montioli, Riccardo; Desbats, Maria Andrea; Grottelli, Silvia; Doimo, Mara; Bellezza, Ilaria; Borri Voltattorni, Carla; Salviati, Leonardo; Cellini, Barbara