DOIMO, MARA
DOIMO, MARA
Dipartimento di Salute della Donna e del Bambino - SDB
A complementary chemical probe approach towards customized studies of G-quadruplex DNA structures in live cells
2022 Prasad, B.; Doimo, M.; Andreasson, M.; L'Hote, V.; Chorell, E.; Wanrooij, S.
A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL
2018 Al-Behadili, Ali; Uhler, Jay P.; Berglund, Anna-Karin; Peter, Bradley; Doimo, Mara; Reyes, Aurelio; Wanrooij, Sjoerd; Zeviani, Massimo; Falkenberg, Maria
A unique arginine cluster in PolDIP2 enhances nucleotide binding and DNA synthesis by PrimPol
2021 Kasho, K.; Stojkovi?, G.; Vel('a)zquez-Ruiz, C.; Mart('i)nez-Jim('e)nez, M. I.; Doimo, M.; Laurent, T.; Berner, A.; P('e)rez-Rivera, A. E.; Jenninger, L.; Blanco, L.; Wanrooij, S.
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.
2012 Casarin, Alberto; Giorgi, G; Pertegato, V; Siviero, R; Cerqua, C; Doimo, Mara; Basso, Giuseppe; Sacconi, S; Cassina, Matteo; Rizzuto, Rosario; Brosel, S; Davidson, Mm; Dimauro, S; Schon, Ea; Clementi, Maurizio; Trevisson, Eva; Salviati, Leonardo
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
2011 Heeringa, Sf; Chernin, G; Chaki, M; Zhou, W; Sloan, Aj; Ji, Z; Xie, Lx; Salviati, Leonardo; Hurd, Tw; VEGA WARNER, V; Killen, Pd; Raphael, Y; Ashraf, S; Ovunc, B; Schoeb, Ds; Mclaughlin, Hm; Airik, R; Vlangos, Cn; Gbadegesin, R; Hinkes, B; Saisawat, P; Trevisson, Eva; Doimo, Mara; Casarin, Alberto; Pertegato, V; Giorgi, G; Prokisch, H; Rã–tig, A; Nãœrnberg, G; Becker, C; Wang, S; Ozaltin, F; Topaloglu, R; Bakkaloglu, A; Bakkaloglu, Sa; Mãœller, D; Beissert, A; Mir, S; Berdeli, A; Varpizen, S; Zenker, M; Matejas, V; SANTOS OCAÑA, C; Navas, P; Kusakabe, T; Kispert, A; Akman, S; Soliman, Na; Krick, S; Mundel, P; Reiser, J; Nãœrnberg, P; Clarke, Cf; Wiggins, Rc; Faul, C; Hildebrandt, F.
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
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency
2014 Doimo, Mara; Trevisson, Eva; R., Airik; Bergdoll, M; C., Santos Ocaña; F., Hildebrandt; P., Navas; F., Pierrel; Salviati, Leonardo
Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells
2023 Doimo, M.; Chaudhari, N.; Abrahamsson, S.; L'Hote, V.; Nguyen, T. V. H.; Berner, A.; Ndi, M.; Abrahamsson, A.; Das, R. N.; Aasumets, K.; Goffart, S.; Pohjoismaki, J. L. O.; Lopez, M. D.; Chorell, E.; Wanrooij, S.
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
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis
2008 Casarin, Alberto; JIMENEZ ORTEGA, Jc; Trevisson, Eva; Pertegato, V; Doimo, Mara; FERRERO GOMEZ, Ml; Abbadi, S; Artuch, R; Quinzii, C; Hirano, M; Basso, Giuseppe; Ocana, Cs; Navas, P; Salviati, Leonardo
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations
2009 Trevisson, Eva; Burlina, A; Doimo, Mara; Pertegato, V; Casarin, Alberto; Cesaro, Luca; Navas, P; Basso, Giuseppe; Sartori, Geppo; 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.
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans
2015 Doimo, Mara; Lopreiato, Raffaele; Basso, Valentina; Bortolotto, Raissa; Tessa, Alessandra; Santorelli, Filippo M; Trevisson, Eva; Salviati, Leonardo
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
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.
2014 Nguyen, Tp; Casarin, Alberto; Desbats, MARIA ANDREA; Doimo, Mara; Trevisson, Eva; Santos Ocaña, C; Navas, P; Clarke, Cf; Salviati, Leonardo
Molecular Genetics of Argininosuccinic Aciduria
2014 Trevisson, Eva; Doimo, Mara; Salviati, Leonardo
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function
2018 Vazquez Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva; Salviati, Leonardo
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
2017 Nasca, A.; Rizza, T.; Doimo, M.; Legati, A.; Ciolfi, A.; Diodato, D.; Calderan, C.; Carrara, G.; Lamantea, E.; Aiello, C.; Di Nottia, M.; Niceta, M.; Lamperti, C.; Ardissone, A.; Bianchi-Marzoli, S.; Iarossi, G.; Bertini, E.; Moroni, I.; Tartaglia, M.; Salviati, L.; Carrozzo, R.; Ghezzi, D.