Works by Doimo, Mara

Results: 15

Activating AMPK improves pathological phenotypes due to mtDNA depletion.

Published in:

FEBS Journal, 2025, v. 292, n. 9, p. 2359, doi. 10.1111/febs.70006

By:

Carvalho, Gustavo;
Nguyen, Tran V. H.;
Repolês, Bruno;
Forslund, Josefin M. E.;
Wijethunga, W. M. Ruchitha Rukmal;
Ranjbarian, Farahnaz;
Mendes, Isabela C.;
Gorospe, Choco Michael;
Chaudhari, Namrata;
Falabella, Micol;
Doimo, Mara;
Wanrooij, Sjoerd;
Pitceathly, Robert D. S.;
Hofer, Anders;
Wanrooij, Paulina H.

Publication type:

Article

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1254, doi. 10.1038/ejhg.2014.277

By:

Desbats, Maria Andrea;
Vetro, Annalisa;
Limongelli, Ivan;
Lunardi, Giada;
Casarin, Alberto;
Doimo, Mara;
Spinazzi, Marco;
Angelini, Corrado;
Cenacchi, Giovanna;
Burlina, Alberto;
Rodriguez Hernandez, Maria Angeles;
Chiandetti, Lino;
Clementi, Maurizio;
Trevisson, Eva;
Navas, Placido;
Zuffardi, Orsetta;
Salviati, Leonardo

Publication type:

Article

Genetics of Coenzyme Q10 Deficiency.

Published in:

Molecular Syndromology, 2014, v. 5, n. 3/4, p. 156, doi. 10.1159/000362826

By:

Doimo, Mara;
Desbats, Maria A.;
Cerqua, Cristina;
Cassina, Matteo;
Trevisson, Eva;
Salviati, Leonardo

Publication type:

Article

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.

Published in:

2012

By:

Casarin, Alberto;
Giorgi, Gianpietro;
Pertegato, Vanessa;
Siviero, Roberta;
Cerqua, Cristina;
Doimo, Mara;
Basso, Giuseppe;
Sacconi, Sabrina;
Cassina, Matteo;
Rizzuto, Rosario;
Brosel, Sonja;
M Davidson, Mercy;
Dimauro, Salvatore;
Schon, Eric A;
Clementi, Maurizio;
Trevisson, Eva;
Salviati, Leonardo

Publication type:

journal article

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 21, doi. 10.1186/1750-1172-7-21

By:

Casarin, Alberto;
Giorgi, Gianpietro;
Pertegato, Vanessa;
Siviero, Roberta;
Cerqua, Cristina;
Doimo, Mara;
Basso, Giuseppe;
Sacconi, Sabrina;
Cassina, Matteo;
Rizzuto, Rosario;
Brosel, Sonja;
Davidson, Mercy M.;
DiMauro, Salvatore;
Schon, Eric A.;
Clementi, Maurizio;
Trevisson, Eva;
Salviati, Leonardo

Publication type:

Article

Genetic bases and clinical manifestations of coenzyme Q (CoQ) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 145, doi. 10.1007/s10545-014-9749-9

By:

Desbats, Maria;
Lunardi, Giada;
Doimo, Mara;
Trevisson, Eva;
Salviati, Leonardo

Publication type:

Article

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 43, doi. 10.1007/s10545-012-9487-9

By:

Cassandrini, Denise;
Cilio, Maria;
Bianchi, Marzia;
Doimo, Mara;
Balestri, Martina;
Tessa, Alessandra;
Rizza, Teresa;
Sartori, Geppo;
Meschini, Maria;
Nesti, Claudia;
Tozzi, Giulia;
Petruzzella, Vittoria;
Piemonte, Fiorella;
Bisceglia, Luigi;
Bruno, Claudio;
Dionisi-Vici, Carlo;
D'Amico, Adele;
Fattori, Fabiana;
Carrozzo, Rosalba;
Salviati, Leonardo

Publication type:

Article

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.

Published in:

2012

By:

Doimo, Mara;
Trevisson, Eva;
Sartori, Geppo;
Burlina, Alberto;
Salviati, Leonardo

Publication type:

Letter

Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells.

Published in:

Nucleic Acids Research, 2023, v. 51, n. 14, p. 7392, doi. 10.1093/nar/gkad535

By:

Doimo, Mara;
Chaudhari, Namrata;
Abrahamsson, Sanna;
L'Hôte, Valentin;
Nguyen, Tran V H;
Berner, Andreas;
Ndi, Mama;
Abrahamsson, Alva;
Das, Rabindra Nath;
Aasumets, Koit;
Goffart, Steffi;
Pohjoismäki, Jaakko L O;
López, Marcela Dávila;
Chorell, Erik;
Wanrooij, Sjoerd

Publication type:

Article

A unique arginine cluster in PolDIP2 enhances nucleotide binding and DNA synthesis by PrimPol.

Published in:

Nucleic Acids Research, 2021, v. 49, n. 4, p. 2179, doi. 10.1093/nar/gkab049

By:

Kasho, Kazutoshi;
Stojkovič, Gorazd;
Velázquez-Ruiz, Cristina;
Martínez-Jiménez, Maria Isabel;
Doimo, Mara;
Laurent, Timothée;
Berner, Andreas;
Pérez-Rivera, Aldo E;
Jenninger, Louise;
Blanco, Luis;
Wanrooij, Sjoerd

Publication type:

Article

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.

Published in:

Nucleic Acids Research, 2018, v. 46, n. 18, p. 9471, doi. 10.1093/nar/gky708

By:

Al-Behadili, Ali;
Uhler, Jay P;
Berglund, Anna-Karin;
Peter, Bradley;
Doimo, Mara;
Reyes, Aurelio;
Wanrooij, Sjoerd;
Zeviani, Massimo;
Falkenberg, Maria

Publication type:

Article

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Published in:

2017

By:

Nasca, Alessia;
Rizza, Teresa;
Doimo, Mara;
Legati, Andrea;
Ciolfi, Andrea;
Diodato, Daria;
Calderan, Cristina;
Carrara, Gianfranco;
Lamantea, Eleonora;
Aiello, Chiara;
Di Nottia, Michela;
Niceta, Marcello;
Lamperti, Costanza;
Ardissone, Anna;
Bianchi-Marzoli, Stefania;
Iarossi, Giancarlo;
Bertini, Enrico;
Moroni, Isabella;
Tartaglia, Marco;
Salviati, Leonardo

Publication type:

journal article

Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function.

Published in:

Human Mutation, 2018, v. 39, n. 3, p. 406, doi. 10.1002/humu.23376

By:

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

Publication type:

Article

Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 229, doi. 10.1002/humu.22233

By:

Doimo, Mara;
Desbats, Maria Andrea;
Baldoin, Maria Cristina;
Lenzini, Elisabetta;
Basso, Giuseppe;
Murphy, Elaine;
Graziano, Claudio;
Seri, Marco;
Burlina, Alberto;
Sartori, Geppo;
Trevisson, Eva;
Salviati, Leonardo

Publication type:

Article

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 19, p. 4256, doi. 10.1093/hmg/ddw257

By:

Desbats, Maria Andrea;
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

Publication type:

Article

Works by Doimo, Mara

Activating AMPK improves pathological phenotypes due to mtDNA depletion.

Primary coenzyme Q<sub>10</sub> deficiency presenting as fatal neonatal multiorgan failure.

Genetics of Coenzyme Q<sub>10</sub> Deficiency.

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.

Genetic bases and clinical manifestations of coenzyme Q (CoQ) deficiency.

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.

Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells.

A unique arginine cluster in PolDIP2 enhances nucleotide binding and DNA synthesis by PrimPol.

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function.

Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.

The COQ2 genotype predicts the severity of coenzyme Q<sub>10</sub> deficiency.