Sfoglia per Autore
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.
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 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.
{mtDNA} replication, maintenance, and nucleoid organization
2020 Doimo, Mara; Pfeiffer, Annika; Wanrooij, Paulina H.; Wanrooij, Sjoerd
Quinazoline Ligands Induce Cancer Cell Death through Selective STAT3 Inhibition and G-Quadruplex Stabilization
2020 Jamroskovic, J.; Doimo, M.; Chand, K.; Obi, I.; Kumar, R.; Brannstrom, K.; Hedenstrom, M.; Nath Das, R.; Akhunzianov, A.; Deiana, M.; Kasho, K.; Sulis Sato, S.; Pourbozorgi, P. L.; Mason, J. E.; Medini, P.; Ohlund, D.; Wanrooij, S.; Chorell, E.; Sabouri, N.
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
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
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
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
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.
Primary Coenzyme Q10 Deficiency
2017 Salviati, Leonardo; Trevisson, Eva; Doimo, Mara; Navas, P.
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency
2016 Andrea Desbats, Maria; Morbidoni, Valeria; SILIC-BENUSSI, Micol; Doimo, Mara; Ciminale, Vincenzo; Cassina, Matteo; Sacconi, Sabrina; Hirano, Michio; Basso, Giuseppe; Pierrel, Fabien; Navas, Placido; Salviati, Leonardo; Trevisson, Eva
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
2015 Desbats, Ma; Vetro, A; Limongelli, I; Lunardi, Giada; Casarin, Alberto; Doimo, Mara; Spinazzi, Marco; Angelini, Corrado; Cenacchi, G; Burlina, Alberto; Rodriguez Hernandez, Ma; Chiandetti, Lino; Clementi, Maurizio; Trevisson, Eva; Navas, P; Zuffardi, O; Salviati, Leonardo
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 Genetics of Argininosuccinic Aciduria
2014 Trevisson, Eva; Doimo, Mara; Salviati, Leonardo
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
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
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
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
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