Works matching AU Tiranti, Valeria

Results: 67

Fibroblasts and hiPS‐Derived Astrocytes From CoPAN Patients Showed Different Levels of Iron Overload Correlated With Senescent Phenotype.

Published in:

Glia (0894-1491), 2025, v. 73, n. 7, p. 1467, doi. 10.1002/glia.70017

By:

Cozzi, Anna;
Santambrogio, Paolo;
Moro, Andrea Stefano;
Pelagatti, Alessio;
Rubio, Alicia;
Balestrucci, Chiara;
Di Meo, Ivano;
Tiranti, Valeria;
Levi, Sonia

Publication type:

Article

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.

Published in:

Neurogenetics, 2021, v. 22, n. 4, p. 347, doi. 10.1007/s10048-021-00667-0

By:

Cavestro, Chiara;
Panteghini, Celeste;
Reale, Chiara;
Nasca, Alessia;
Fenu, Silvia;
Salsano, Ettore;
Chiapparini, Luisa;
Garavaglia, Barbara;
Pareyson, Davide;
Di Meo, Ivano;
Tiranti, Valeria

Publication type:

Article

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Published in:

Neurogenetics, 2017, v. 18, n. 3, p. 175, doi. 10.1007/s10048-017-0518-4

By:

Carecchio, Miryam;
Picillo, Marina;
Valletta, Lorella;
Elia, Antonio;
Haack, Tobias;
Cozzolino, Autilia;
Vitale, Annalisa;
Garavaglia, Barbara;
Iuso, Arcangela;
Bagella, Caterina;
Pappatà, Sabina;
Barone, Paolo;
Prokisch, Holger;
Romito, Luigi;
Tiranti, Valeria

Publication type:

Article

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 374, doi. 10.1002/humu.1112

By:

Péquignot, Marie O.;
Dey, Runu;
Zeviani, Massimo;
Tiranti, Valeria;
Godinot, Catherine;
Poyau, Alain;
Sue, Caroline;
Di Mauro, Salvatore;
Abitbol, Marc;
Marsac, Cécile

Publication type:

Article

Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1615, doi. 10.1002/acn3.52079

By:

Cavestro, Chiara;
Morra, Francesca;
Legati, Andrea;
D'Amato, Marco;
Nasca, Alessia;
Iuso, Arcangela;
Lubarr, Naomi;
Morrison, Jennifer L.;
Wheeler, Patricia G.;
Serra‐Juhé, Clara;
Rodríguez‐Santiago, Benjamín;
Turón‐Viñas, Eulalia;
Prouteau, Clement;
Barth, Magalie;
Hayflick, Susan J.;
Ghezzi, Daniele;
Tiranti, Valeria;
Di Meo, Ivano

Publication type:

Article

Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype.

Published in:

Cell Death & Disease, 2022, v. 13, n. 2, p. 1, doi. 10.1038/s41419-022-04626-x

By:

Santambrogio, Paolo;
Ripamonti, Maddalena;
Cozzi, Anna;
Raimondi, Marzia;
Cavestro, Chiara;
Di Meo, Ivano;
Rubio, Alicia;
Taverna, Stefano;
Tiranti, Valeria;
Levi, Sonia

Publication type:

Article

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 5, p. 385, doi. 10.1038/sj.ejhg.5200640

By:

Hutchin, Tim P;
Navarro-Coy, Nuria C;
Van Camp, Guy;
Tiranti, Valeria;
Zeviani, Massimo;
Schuelke, Markus;
Jaksch, Michaela;
Newton, Valerie;
Mueller, Robert F

Publication type:

Article

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 140, doi. 10.1038/sj.ejhg.5200244

By:

Rovio, Anja;
Tiranti, Valeria;
Bednarz, Amy L;
Suomalainen, Anu;
Spelbrink, Johannes N;
Lecrenier, Nicolas;
Melberg, Atle;
Zeviani, Massimo;
Poulton, Joanna;
Foury, Françoise;
Jacobs, Howard T

Publication type:

Article

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 45, doi. 10.1038/sj.ejhg.5200247

By:

Verhoeven, Kristien;
Ensink, Robbert JH;
Tiranti, Valeria;
Huygen, Patrick LM;
Johnson, David F;
Schatteman, Isabelle;
Van Laer, Lut;
Verstreken, Margriet;
Van de Heyning, Paul;
Fischel-Ghodsian, Nathan;
Zeviani, Massimo;
Cremers, Cor WRJ;
Willems, Patrick J;
Van Camp, Guy

Publication type:

Article

PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation.

Published in:

Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.878103

By:

Ripamonti, Maddalena;
Santambrogio, Paolo;
Racchetti, Gabriella;
Cozzi, Anna;
Di Meo, Ivano;
Tiranti, Valeria;
Levi, Sonia

Publication type:

Article

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.

Published in:

2019

By:

Catania, Alessia;
Iuso, Arcangela;
Bouchereau, Juliette;
Kremer, Laura S.;
Paviolo, Marina;
Terrile, Caterina;
Bénit, Paule;
Rasmusson, Allan G.;
Schwarzmayr, Thomas;
Tiranti, Valeria;
Rustin, Pierre;
Rak, Malgorzata;
Prokisch, Holger;
Schiff, Manuel

Publication type:

journal article

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

Published in:

Nature Medicine, 2010, v. 16, n. 8, p. 869, doi. 10.1038/nm.2188

By:

Viscomi, Carlo;
Burlina, Alberto B;
Dweikat, Imad;
Savoiardo, Mario;
Lamperti, Costanza;
Hildebrandt, Tatjana;
Tiranti, Valeria;
Zeviani, Massimo

Publication type:

Article

Erratum: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.

Published in:

2009

By:

Tiranti, Valeria;
Viscomi, Carlo;
Hildebrandt, Tatjana;
Di Meo, Ivano;
Mineri, Rossana;
Tiveron, Cecilia;
Levitt, Michael D;
Prelle, Alessandro;
Fagiolari, Gigliola;
Rimoldi, Marco;
Zeviani, Massimo

Publication type:

Correction Notice

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.

Published in:

Nature Medicine, 2009, v. 15, n. 2, p. 200, doi. 10.1038/nm.1907

By:

Tiranti, Valeria;
Viscomi, Carlo;
Hildebrandt, Tatjana;
Di Meo, Ivano;
Mineri, Rossana;
Tiveron, Cecilia;
D Levitt, Michael;
Prelle, Alessandro;
Fagiolari, Gigliola;
Rimoldi, Marco;
Zeviani, Massimo

Publication type:

Article

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Published in:

Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765

By:

Spinazzola, Antonella;
Viscomi, Carlo;
Fernandez-Vizarra, Erika;
Carrara, Franco;
D'Adamo, Pio;
Calvo, Sarah;
Marsano, René Massimiliano;
Donnini, Claudia;
Weiher, Hans;
Strisciuglio, Pietro;
Parini, Rossella;
Sarzi, Emmanuelle;
Chan, Alicia;
DiMauro, Salvatore;
Rötig, Agnes;
Gasparini, Paolo;
Ferrero, Iliana;
Mootha, Vamsi K.;
Tiranti, Valeria;
Zeviani, Massimo

Publication type:

Article

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

Published in:

Nature Genetics, 2001, v. 28, n. 3, p. 223, doi. 10.1038/90058

By:

Spelbrink, Johannes N.;
Li, Fang-Yuan;
Tiranti, Valeria;
Nikali, Kaisu;
Yuan, Qiu-Ping;
Tariq, Muhammed;
Wanrooij, Sjoerd;
Garrido, Nuria;
Comi, Giacomo;
Morandi, Lucia;
Santoro, Lucio;
Toscano, Antonio;
Fabrizi, Gian-Maria;
Somer, Hannu;
Croxen, Rebecca;
Beeson, David;
Poulton, Joanna;
Suomalainen, Anu;
Jacobs, Howard T

Publication type:

Article

Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways.

Published in:

Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0200-x

By:

Podrini, Christine;
Rowe, Isaline;
Pagliarini, Roberto;
Costa, Ana S. H.;
Chiaravalli, Marco;
Di Meo, Ivano;
Kim, Hyunho;
Distefano, Gianfranco;
Tiranti, Valeria;
Qian, Feng;
di Bernardo, Diego;
Frezza, Christian;
Boletta, Alessandra

Publication type:

Article

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

Published in:

International Journal of Cell Biology, 2014, p. 1, doi. 10.1155/2014/787956

By:

Diodato, Daria;
Ghezzi, Daniele;
Tiranti, Valeria

Publication type:

Article

Ethylmalonic Encephalopathy ETHE1 R163W/R163Q Mutations Alter Protein Stability and Redox Properties of the Iron Centre.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107157

By:

Henriques, Bárbara J.;
Lucas, Tânia G.;
Rodrigues, João V.;
Frederiksen, Jane H.;
Teixeira, Miguel S.;
Tiranti, Valeria;
Bross, Peter;
Gomes, Cláudio M.

Publication type:

Article

How Do Human Cells React to the Absence of Mitochondrial DNA?

Published in:

PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005713

By:

Mineri, Rossana;
Pavelka, Norman;
Fernandez-Vizarra, Erika;
Ricciardi-Castagnoli, Paola;
Zeviani, Massimo;
Tiranti, Valeria

Publication type:

Article

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+.

Published in:

Frontiers in Genetics, 2015, p. 1, doi. 10.3389/fgene.2015.00185

By:

Venco, Paola;
Bonora, Massimo;
Giorgi, Carlotta;
Papaleo, Elena;
Iuso, Arcangela;
Prokisch, Holger;
Pinton, Paolo;
Tiranti, Valeria

Publication type:

Article

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 499, doi. 10.1093/hmg/ddx419

By:

Punzi, Giuseppe;
Porcelli, Vito;
Ruggiu, Matteo;
Hossain, Md F.;
Menga, Alessio;
Scarcia, Pasquale;
Castegna, Alessandra;
Gorgoglione, Ruggiero;
Pierri, Ciro L.;
Laera, Luna;
Lasorsa, Francesco M.;
Paradies, Eleonora;
Pisano, Isabella;
Marobbio, Carlo M. T.;
Lamantea, Eleonora;
Ghezzi, Daniele;
Tiranti, Valeria;
Giannattasio, Sergio;
Donati, Maria A.;
Guerrini, Renzo

Publication type:

Article

Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 15, p. 2961, doi. 10.1093/hmg/ddx186

By:

Girolimetti, Giulia;
Guerra, Flora;
Iommarini, Luisa;
Kurelac, Ivana;
Vergara, Daniele;
Maffia, Michele;
Vidone, Michele;
Amato, Laura Benedetta;
Leone, Giulia;
Dusi, Sabrina;
Tiranti, Valeria;
Myriam Perrone, Anna;
Bucci, Cecilia;
Porcelli, Anna Maria;
Gasparre, Giuseppe

Publication type:

Article

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.

Published in:

2016

By:

Dionisi-Vici, Carlo;
Diodato, Daria;
Torre, Giuliano;
Picca, Stefano;
Pariante, Rosanna;
Picardo, Sergio Giuseppe;
Di Meo, Ivano;
Rizzo, Cristiano;
Tiranti, Valeria;
Zeviani, Massimo;
De Goyet, Jean De Ville;
Giuseppe Picardo, Sergio;
De Ville De Goyet, Jean

Publication type:

journal article

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 57, doi. 10.1093/brain/awt325

By:

Brunetti, Dario;
Dusi, Sabrina;
Giordano, Carla;
Lamperti, Costanza;
Morbin, Michela;
Fugnanesi, Valeria;
Marchet, Silvia;
Fagiolari, Gigliola;
Sibon, Ody;
Moggio, Maurizio;
d’Amati, Giulia;
Tiranti, Valeria

Publication type:

Article

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

Published in:

Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0316-5

By:

Onesto, Elisa;
Colombrita, Claudia;
Gumina, Valentina;
Borghi, Maria Orietta;
Dusi, Sabrina;
Doretti, Alberto;
Fagiolari, Gigliola;
Invernizzi, Federica;
Moggio, Maurizio;
Tiranti, Valeria;
Silani, Vincenzo;
Ratti, Antonia

Publication type:

Article

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2733, doi. 10.1093/hmg/9.18.2733

By:

Tiranti, Valeria

Publication type:

Article

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2533, doi. 10.1093/hmg/8.13.2533

By:

Tiranti, Valeria;
Galimberti, Claudia;
Nijtmans, Leo;
Bovolenta, Silvia;
Perini, Maria Paola;
Zeviani, Massimo

Publication type:

Article

Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2275, doi. 10.1093/hmg/8.12.2275

By:

Toompuu, Marina;
Tiranti, Valeria;
Zeviani, Massimo;
Jacobs, Howard T.

Publication type:

Article

Identification of the Gene Encoding the Human Mitochondrial RNA Polymerase (h-mtRPOL) by Cyberscreening of the Expressed Sequence Tags Database.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 615, doi. 10.1093/hmg/6.4.615

By:

Tiranti, Valeria;
Savoia, Anna;
Forti, Francesca;
D'Apolito, Maria-Felicia;
Centra, Marta;
Rocchi, Mariano;
Zeviani, Massimo

Publication type:

Article

A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 221, doi. 10.1093/hmg/6.2.221

By:

Munaro, Monica;
Tiranti, Valeria;
Sandonà, Doriana;
Lamantea, Eleonora;
Uziel, Graziella;
Bisson, Roberto;
Zeviani, Massimo

Publication type:

Article

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho° transformants.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2017

By:

Tiranti, Valeria;
Munaro, Monica;
Sandonà, Doriana;
Lamantea, Eleonora;
Rimoldi, Marco;
DiDonato, Stefano;
Bisson, Roberto;
Zeviani, Massimo

Publication type:

Article

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1421

By:

Tiranti, Valeria;
Chariot, Patrick;
Carella, Francesco;
Toscano, Antonio;
Soliveri, Paola;
Girlanda, Paolo;
Carrara, Franco;
Fratta, Giovanni Matteo;
Reid, Fiona M.;
Mariotti, Caterina;
Zeviani, Massimo

Publication type:

Article

The V368i mutation in Twinkle does not segregate with adPEO.

Published in:

Annals of Neurology, 2003, v. 53, n. 2, p. 278

By:

Joaquín Arenas;
Egill Briem;
Henrik Dahl;
Wendy Hutchison;
Sharon Lewis;
Miguel A. Martin;
Hans Spelbrink;
Valeria Tiranti;
Howy Jacobs;
Massimo Zeviani

Publication type:

Article

Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Published in:

Annals of Neurology, 2002, v. 52, n. 2, p. 211, doi. 10.1002/ana.10278

By:

Lamantea, Eleonora;
Tiranti, Valeria;
Bordoni, Andreina;
Toscano, Antonio;
Bono, Francesco;
Servidei, Serena;
Papadimitriou, Alex;
Spelbrink, Hans;
Silvestri, Laura;
Casari, Giorgio;
Comi, Giacomo P.;
Zeviani, Massimo

Publication type:

Article

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.

Published in:

2001

By:

Corona, Paola;
Antozzi, Carlo;
Carrara, Franco;
D'Incerti, Ludovico;
Lamantea, Eleonora;
Tiranti, Valeria;
Zeviani, Massimo;
Corona, P;
Antozzi, C;
Carrara, F;
D'Incerti, L;
Lamantea, E;
Tiranti, V;
Zeviani, M

Publication type:

journal article

A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation.

Published in:

Annals of Neurology, 1998, v. 43, n. 1, p. 98, doi. 10.1002/ana.410430116

By:

Tiranti, Valeria;
D'Agruma, Leonardo;
Pareyson, Davide;
Mora, Marina;
St, Franco Carrara;
Zelante, Leopoldo;
Gasparini, Paolo;
Zeviani, Massimo

Publication type:

Article

Characterization and Expression of the Mouse Endonuclease G Gene.

Published in:

DNA & Cell Biology, 1997, v. 16, n. 9, p. 1111, doi. 10.1089/dna.1997.16.1111

By:

PRATS, EVA;
NOËL, MICHELINE;
LÉTOURNEAU, JULIE;
TIRANTI, VALERIA;
VAQUÉ, JAUME;
DEBÓN, ROSA;
ZEVIANI, MASSIMO;
CORNUDELLA, LLUÍS;
RUIZ-CARRILLO, ADOLF

Publication type:

Article

Inborn errors of coenzyme A metabolism and neurodegeneration.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 49, doi. 10.1002/jimd.12026

By:

Di Meo, Ivano;
Carecchio, Miryam;
Tiranti, Valeria

Publication type:

Article

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 123, doi. 10.1007/s10545-014-9770-z

By:

Colombelli, Cristina;
Aoun, Manar;
Tiranti, Valeria

Publication type:

Article

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 451, doi. 10.1007/s10545-011-9408-3

By:

Giordano, Carla;
Viscomi, Carlo;
Orlandi, Maurizia;
Papoff, Paola;
Spalice, Alberto;
Burlina, Alberto;
Meo, Ivano;
Tiranti, Valeria;
Leuzzi, Vincenzo;
d'Amati, Giulia;
Zeviani, Massimo

Publication type:

Article

Modeling mitochondrial DNA diseases: from base editing to pluripotent stem‐cell‐derived organoids.

Published in:

EMBO Reports, 2023, v. 24, n. 4, p. 1, doi. 10.15252/embr.202255678

By:

Tolle, Isabella;
Tiranti, Valeria;
Prigione, Alessandro

Publication type:

Article

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5294, doi. 10.1093/hmg/dds380

By:

Brunetti, Dario;
Dusi, Sabrina;
Morbin, Michela;
Uggetti, Andrea;
Moda, Fabio;
D'Amato, Ilaria;
Giordano, Carla;
d'Amati, Giulia;
Cozzi, Anna;
Levi, Sonia;
Hayflick, Susan;
Tiranti, Valeria

Publication type:

Article

adPEO mutations in ANT1 impair ADP–ATP translocation in muscle mitochondria.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2964, doi. 10.1093/hmg/ddr200

By:

Kawamata, Hibiki;
Tiranti, Valeria;
Magrané, Jordi;
Chinopoulos, Christos;
Manfredi, Giovanni

Publication type:

Article

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 923, doi. 10.1093/hmg/ddh108

By:

Fontanesi, Flavia;
Palmieri, Luigi;
Scarcia, Pasquale;
Lodi, Tiziana;
Donnini, Claudia;
Limongelli, Anna;
Tiranti, Valeria;
Zeviani, Massimo;
Ferrero, Iliana;
Viola, Anna Maria

Publication type:

Article

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 4, p. 399, doi. 10.1093/hmg/ddg038

By:

Agostino, Alessandro;
Invernizzi, Federica;
Tiveron, Cecilia;
Fagiolari, Gigliola;
Prelle, Alessandro;
Lamantea, Eleonora;
Giavazzi, Alessio;
Battaglia, Giorgio;
Tatangelo, Laura;
Tiranti, Valeria;
Zeviani, Massimo

Publication type:

Article

Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients.

Published in:

European Journal of Neurology, 2023, v. 30, n. 7, p. 2079, doi. 10.1111/ene.15814

By:

Ardissone, Anna;
Ferrera, Giulia;
Lamperti, Costanza;
Tiranti, Valeria;
Ghezzi, Daniele;
Moroni, Isabella;
Lamantea, Eleonora

Publication type:

Article

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.

Published in:

Biochemical Society Transactions, 2014, v. 42, n. 4, p. 1069, doi. 10.1042/BST20140106

By:

Venco, Paola;
Dusi, Sabrina;
Valletta, Lorella;
Tiranti, Valeria

Publication type:

Article

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Published in:

EMBO Molecular Medicine, 2017, v. 9, n. 1, p. 96, doi. 10.15252/emmm.201606356

By:

Ziosi, Marcello;
Di Meo, Ivano;
Kleiner, Giulio;
Gao, Xing‐Huang;
Barca, Emanuele;
Sanchez‐Quintero, Maria J;
Tadesse, Saba;
Jiang, Hongfeng;
Qiao, Changhong;
Rodenburg, Richard J;
Scalais, Emmanuel;
Schuelke, Markus;
Willard, Belinda;
Hatzoglou, Maria;
Tiranti, Valeria;
Quinzii, Catarina M

Publication type:

Article

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.

Published in:

EMBO Molecular Medicine, 2016, v. 8, n. 10, p. 1197, doi. 10.15252/emmm.201606391

By:

Orellana, Daniel I;
Santambrogio, Paolo;
Rubio, Alicia;
Yekhlef, Latefa;
Cancellieri, Cinzia;
Dusi, Sabrina;
Giannelli, Serena G;
Venco, Paola;
Mazzara, Pietro G;
Cozzi, Anna;
Ferrari, Maurizio;
Garavaglia, Barbara;
Taverna, Stefano;
Tiranti, Valeria;
Broccoli, Vania;
Levi, Sonia

Publication type:

Article