Valeria Tiranti

Affiliations

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.

Publications (31)

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

The Journal of clinical investigation

Avec: Valentina Del Dotto , Farid Ullah , Ivano Di Meo , Pamela Magini , Mirjana Gusic , Alessandra Maresca , Leonardo Caporali , Flavia Palombo , Francesca Tagliavini , Evan Harris Baugh , Bertil Macao , Zsolt Szilagyi , Camille Peron , Margaret A Gustafson , Kamal Khan , Chiara La Morgia , Piero Barboni , Michele Carbonelli , Maria Lucia Valentino , Rocco Liguori , Vandana Shashi , Jennifer Sullivan , Shashi Nagaraj , Mays El-Dairi , Alessandro Iannaccone , Ioana Cutcutache , Enrico Bertini , Rosalba Carrozzo , Francesco Emma , Francesca Diomedi-Camassei , Claudia Zanna , Martin Armstrong , Matthew Page , Nicholas Stong , Sylvia Boesch , Robert Kopajtich , Saskia Wortmann , Wolfgang Sperl , Erica E Davis , William C Copeland , Marco Seri , Maria Falkenberg , Holger Prokisch , Nicholas Katsanis , Valeria Tiranti , Tommaso Pippucci , Valerio Carelli

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

Cell death & disease

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

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model.

Journal of visualized experiments : JoVE

Avec: Andrea Cavaliere , Silvia Marchet , Ivano Di Meo , Valeria Tiranti

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

Annals of clinical and translational neurology

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

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.

International journal of molecular sciences

Avec: Chiara Cavestro , Daria Diodato , Valeria Tiranti , Ivano Di Meo

Inborn errors of coenzyme A metabolism and neurodegeneration.

Journal of inherited metabolic disease

Avec: Ivano Di Meo , Miryam Carecchio , Valeria Tiranti

TFG binds LC3C to regulate ULK1 localization and autophagosome formation.

The EMBO journal

Avec: Marianna Carinci , Beatrice Testa , Matteo Bordi , Giacomo Milletti , Massimo Bonora , Laura Antonucci , Caterina Ferraina , Marta Carro , Mukesh Kumar , Donatella Ceglie , Franziska Eck , Roberta Nardacci , Francois le Guerroué , Stefania Petrini , Maria E Soriano , Ignazio Caruana , Valentina Doria , Maria Manifava , Camille Peron , Matteo Lambrughi , Valeria Tiranti , Christian Behrends , Elena Papaleo , Paolo Pinton , Carlotta Giorgi , Nicholas T Ktistakis , Franco Locatelli , Francesca Nazio , Francesco Cecconi

Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model.

International journal of molecular sciences

Avec: Ivano Di Meo , Chiara Cavestro , Silvia Pedretti , Tingting Fu , Simona Ligorio , Antonello Manocchio , Lucrezia Lavermicocca , Paolo Santambrogio , Maddalena Ripamonti , Sonia Levi , Sophie Ayciriex , Nico Mitro , Valeria Tiranti

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

Neurogenetics

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

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

EMBO reports

Avec: Isabella Tolle , Valeria Tiranti , Alessandro Prigione

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.

Cell reports. Medicine

Avec: Serena Jasmine Aleo , Valentina Del Dotto , Martina Romagnoli , Claudio Fiorini , Giada Capirossi , Camille Peron , Alessandra Maresca , Leonardo Caporali , Mariantonietta Capristo , Concetta Valentina Tropeano , Claudia Zanna , Fred N Ross-Cisneros , Alfredo A Sadun , Maria Gemma Pignataro , Carla Giordano , Chiara Fasano , Andrea Cavaliere , Anna Maria Porcelli , Gaia Tioli , Francesco Musiani , Alessia Catania , Costanza Lamperti , Stefania Bianchi Marzoli , Annamaria De Negri , Maria Lucia Cascavilla , Marco Battista , Piero Barboni , Michele Carbonelli , Giulia Amore , Chiara La Morgia , Dmitrii Smirnov , Catalina Vasilescu , Aiman Farzeen , Beryll Blickhaeuser , Holger Prokisch , Claudia Priglinger , Bettina Livonius , Claudia B Catarino , Thomas Klopstock , Valeria Tiranti , Valerio Carelli , Anna Maria Ghelli

Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.

Stem cell research

Avec: Camille Peron , Andrea Cavaliere , Chiara Fasano , Angelo Iannielli , Manuela Spagnolo , Andrea Legati , Maria Nicol Colombo , Ambra Rizzo , Francesca L Sciacca , Valerio Carelli , Vania Broccoli , Costanza Lamperti , Valeria Tiranti

Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).

Stem cell research

Avec: Camille Peron , Roberta Mauceri , Tommaso Cabassi , Alice Segnali , Alessandra Maresca , Angelo Iannielli , Ambra Rizzo , Francesca L Sciacca , Vania Broccoli , Valerio Carelli , Valeria Tiranti

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.

International journal of molecular sciences

Avec: Paolo Santambrogio , Maddalena Ripamonti , Chiara Paolizzi , Celeste Panteghini , Miryam Carecchio , Luisa Chiapparini , Marzia Raimondi , Alicia Rubio , Ivano Di Meo , Anna Cozzi , Stefano Taverna , Giuseppe De Palma , Valeria Tiranti , Sonia Levi

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

Orphanet journal of rare diseases

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

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation.

Molecular genetics and metabolism reports

Avec: Melike Ersoy , Valeria Tiranti , Massimo Zeviani

Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12.

Stem cell research

Avec: Enrica Zanuttigh , Ejona Rusha , Camille Peron , Dario Brunetti , Giovanna Zorzi , Anna Pertek , Polyxeni Nteli , Juliane Winkelmann , Valeria Tiranti , Arcangela Iuso

Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome.

Stem cell research

Avec: Camille Peron , Roberta Mauceri , Angelo Iannielli , Andrea Cavaliere , Andrea Legati , Ambra Rizzo , Francesca L Sciacca , Vania Broccoli , Valeria Tiranti

Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives.

Frontiers in neurology

Avec: Camille Peron , Alessandra Maresca , Andrea Cavaliere , Angelo Iannielli , Vania Broccoli , Valerio Carelli , Ivano Di Meo , Valeria Tiranti

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

Frontiers in cellular neuroscience

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

Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective.

Pharmaceutics

Avec: Alessia Di Donfrancesco , Giulia Massaro , Ivano Di Meo , Valeria Tiranti , Emanuela Bottani , Dario Brunetti

Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.

Cell reports

Avec: Alberto Danese , Simone Patergnani , Alessandra Maresca , Camille Peron , Andrea Raimondi , Leonardo Caporali , Saverio Marchi , Chiara La Morgia , Valentina Del Dotto , Claudia Zanna , Angelo Iannielli , Alice Segnali , Ivano Di Meo , Andrea Cavaliere , Magdalena Lebiedzinska-Arciszewska , Mariusz R Wieckowski , Andrea Martinuzzi , Milton N Moraes-Filho , Solange R Salomao , Adriana Berezovsky , Rubens Belfort , Christopher Buser , Fred N Ross-Cisneros , Alfredo A Sadun , Carlo Tacchetti , Vania Broccoli , Carlotta Giorgi , Valeria Tiranti , Valerio Carelli , Paolo Pinton

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

European journal of neurology

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

Protocol for evaluating mitochondrial respiration in iPSC-derived neurons by the Seahorse XF analyzer.

STAR protocols

Avec: Chiara Fasano , Andrea Cavaliere , Valeria Tiranti , Camille Peron

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

Mitochondrion

Avec: Silvia Marchet , Federica Invernizzi , Flavia Blasevich , Valentina Bruno , Sabrina Dusi , Paola Venco , Chiara Fiorillo , Giovanni Baranello , Francesco Pallotti , Eleonora Lamantea , Marina Mora , Valeria Tiranti , Costanza Lamperti

Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition.

Pharmaceuticals (Basel, Switzerland)

Avec: Sonia Levi , Valeria Tiranti

Therapeutic Approaches to Treat Mitochondrial Diseases: "One-Size-Fits-All" and "Precision Medicine" Strategies.

Pharmaceutics

Avec: Emanuela Bottani , Costanza Lamperti , Alessandro Prigione , Valeria Tiranti , Nicola Persico , Dario Brunetti

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.

Stem cell reports

Avec: Flavia Palombo , Camille Peron , Leonardo Caporali , Angelo Iannielli , Alessandra Maresca , Ivano Di Meo , Claudio Fiorini , Alice Segnali , Francesca L Sciacca , Ambra Rizzo , Sonia Levi , Anu Suomalainen , Alessandro Prigione , Vania Broccoli , Valerio Carelli , Valeria Tiranti

Mitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives.

International journal of molecular sciences

Avec: Marco D'Amato , Francesca Morra , Ivano Di Meo , Valeria Tiranti

PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived Astrocytes.

Pharmaceutics

Avec: Paolo Santambrogio , Anna Cozzi , Ivano Di Meo , Chiara Cavestro , Cristina Vergara , Laura Rodríguez-Pascau , Marc Martinell , Pilar Pizcueta , Valeria Tiranti , Sonia Levi

CoA synthase plays a critical role in neurodevelopment and neurodegeneration.

Frontiers in cellular neuroscience

Avec: Chiara Cavestro , Marco D'Amato , Maria Nicol Colombo , Floriana Cascone , Andrea Stefano Moro , Sonia Levi , Valeria Tiranti , Ivano Di Meo

Réseau de co-auteurs

Ivano Di Meo 17 collaborations

Camille Peron 11 collaborations

Sonia Levi 8 collaborations

Valerio Carelli 7 collaborations

Chiara Cavestro 7 collaborations

Andrea Cavaliere 7 collaborations

Alessandra Maresca 6 collaborations

Angelo Iannielli 6 collaborations

Vania Broccoli 6 collaborations

Paolo Santambrogio 5 collaborations

Costanza Lamperti 5 collaborations

Leonardo Caporali 4 collaborations

Maddalena Ripamonti 4 collaborations

Anna Cozzi 4 collaborations

Ambra Rizzo 4 collaborations

Francesca L Sciacca 4 collaborations

Valentina Del Dotto 3 collaborations

Chiara La Morgia 3 collaborations

Claudia Zanna 3 collaborations

Holger Prokisch 3 collaborations

Andrea Legati 3 collaborations

Marco D'Amato 3 collaborations

Arcangela Iuso 3 collaborations

Alessandro Prigione 3 collaborations

Chiara Fasano 3 collaborations

Alice Segnali 3 collaborations

Dario Brunetti 3 collaborations

Flavia Palombo 2 collaborations

Piero Barboni 2 collaborations

Michele Carbonelli 2 collaborations

Marzia Raimondi 2 collaborations

Alicia Rubio 2 collaborations

Stefano Taverna 2 collaborations

Silvia Marchet 2 collaborations

Francesca Morra 2 collaborations

Alessia Nasca 2 collaborations

Daniele Ghezzi 2 collaborations

Miryam Carecchio 2 collaborations

Paolo Pinton 2 collaborations

Carlotta Giorgi 2 collaborations

Celeste Panteghini 2 collaborations

Luisa Chiapparini 2 collaborations

Claudio Fiorini 2 collaborations

Fred N Ross-Cisneros 2 collaborations

Alfredo A Sadun 2 collaborations

Alessia Catania 2 collaborations

Maria Nicol Colombo 2 collaborations

Roberta Mauceri 2 collaborations

Emanuela Bottani 2 collaborations

Eleonora Lamantea 2 collaborations

Farid Ullah 1 collaboration

Pamela Magini 1 collaboration

Mirjana Gusic 1 collaboration

Francesca Tagliavini 1 collaboration

Evan Harris Baugh 1 collaboration

Bertil Macao 1 collaboration

Zsolt Szilagyi 1 collaboration

Margaret A Gustafson 1 collaboration

Kamal Khan 1 collaboration

Maria Lucia Valentino 1 collaboration

Rocco Liguori 1 collaboration

Vandana Shashi 1 collaboration

Jennifer Sullivan 1 collaboration

Shashi Nagaraj 1 collaboration

Mays El-Dairi 1 collaboration

Alessandro Iannaccone 1 collaboration

Ioana Cutcutache 1 collaboration

Enrico Bertini 1 collaboration

Rosalba Carrozzo 1 collaboration

Francesco Emma 1 collaboration

Francesca Diomedi-Camassei 1 collaboration

Martin Armstrong 1 collaboration

Matthew Page 1 collaboration

Nicholas Stong 1 collaboration

Sylvia Boesch 1 collaboration

Robert Kopajtich 1 collaboration

Saskia Wortmann 1 collaboration

Wolfgang Sperl 1 collaboration

Erica E Davis 1 collaboration

William C Copeland 1 collaboration

Marco Seri 1 collaboration

Maria Falkenberg 1 collaboration

Nicholas Katsanis 1 collaboration

Tommaso Pippucci 1 collaboration

Naomi Lubarr 1 collaboration

Jennifer L Morrison 1 collaboration

Patricia G Wheeler 1 collaboration

Clara Serra-Juhé 1 collaboration

Benjamín Rodríguez-Santiago 1 collaboration

Eulalia Turón-Viñas 1 collaboration

Clement Prouteau 1 collaboration

Magalie Barth 1 collaboration

Susan J Hayflick 1 collaboration

Daria Diodato 1 collaboration

Marianna Carinci 1 collaboration

Beatrice Testa 1 collaboration

Matteo Bordi 1 collaboration

Giacomo Milletti 1 collaboration

Massimo Bonora 1 collaboration

Laura Antonucci 1 collaboration

Caterina Ferraina 1 collaboration

Marta Carro 1 collaboration

Mukesh Kumar 1 collaboration

Donatella Ceglie 1 collaboration

Franziska Eck 1 collaboration

Roberta Nardacci 1 collaboration

Francois le Guerroué 1 collaboration

Stefania Petrini 1 collaboration

Maria E Soriano 1 collaboration

Ignazio Caruana 1 collaboration

Valentina Doria 1 collaboration

Maria Manifava 1 collaboration

Matteo Lambrughi 1 collaboration

Christian Behrends 1 collaboration

Elena Papaleo 1 collaboration

Nicholas T Ktistakis 1 collaboration

Franco Locatelli 1 collaboration

Francesca Nazio 1 collaboration

Francesco Cecconi 1 collaboration

Silvia Pedretti 1 collaboration

Tingting Fu 1 collaboration

Simona Ligorio 1 collaboration

Antonello Manocchio 1 collaboration

Lucrezia Lavermicocca 1 collaboration

Sophie Ayciriex 1 collaboration

Nico Mitro 1 collaboration

Chiara Reale 1 collaboration

Silvia Fenu 1 collaboration

Ettore Salsano 1 collaboration

Barbara Garavaglia 1 collaboration

Davide Pareyson 1 collaboration

Isabella Tolle 1 collaboration

Serena Jasmine Aleo 1 collaboration

Martina Romagnoli 1 collaboration

Giada Capirossi 1 collaboration

Mariantonietta Capristo 1 collaboration

Concetta Valentina Tropeano 1 collaboration

Maria Gemma Pignataro 1 collaboration

Carla Giordano 1 collaboration

Anna Maria Porcelli 1 collaboration

Gaia Tioli 1 collaboration

Francesco Musiani 1 collaboration

Stefania Bianchi Marzoli 1 collaboration

Annamaria De Negri 1 collaboration

Maria Lucia Cascavilla 1 collaboration

Marco Battista 1 collaboration

Giulia Amore 1 collaboration

Dmitrii Smirnov 1 collaboration

Catalina Vasilescu 1 collaboration

Aiman Farzeen 1 collaboration

Beryll Blickhaeuser 1 collaboration

Claudia Priglinger 1 collaboration

Bettina Livonius 1 collaboration

Claudia B Catarino 1 collaboration

Thomas Klopstock 1 collaboration

Anna Maria Ghelli 1 collaboration

Manuela Spagnolo 1 collaboration

Tommaso Cabassi 1 collaboration

Chiara Paolizzi 1 collaboration

Giuseppe De Palma 1 collaboration

Juliette Bouchereau 1 collaboration

Laura S Kremer 1 collaboration

Marina Paviolo 1 collaboration

Caterina Terrile 1 collaboration

Paule Bénit 1 collaboration

Allan G Rasmusson 1 collaboration

Thomas Schwarzmayr 1 collaboration

Pierre Rustin 1 collaboration

Malgorzata Rak 1 collaboration

Manuel Schiff 1 collaboration

Melike Ersoy 1 collaboration

Massimo Zeviani 1 collaboration

Enrica Zanuttigh 1 collaboration

Ejona Rusha 1 collaboration

Giovanna Zorzi 1 collaboration

Anna Pertek 1 collaboration

Polyxeni Nteli 1 collaboration

Juliane Winkelmann 1 collaboration

Gabriella Racchetti 1 collaboration

Alessia Di Donfrancesco 1 collaboration

Giulia Massaro 1 collaboration

Alberto Danese 1 collaboration

Simone Patergnani 1 collaboration

Andrea Raimondi 1 collaboration

Saverio Marchi 1 collaboration

Magdalena Lebiedzinska-Arciszewska 1 collaboration

Mariusz R Wieckowski 1 collaboration

Andrea Martinuzzi 1 collaboration

Milton N Moraes-Filho 1 collaboration

Solange R Salomao 1 collaboration

Adriana Berezovsky 1 collaboration

Rubens Belfort 1 collaboration

Christopher Buser 1 collaboration

Carlo Tacchetti 1 collaboration

Anna Ardissone 1 collaboration

Giulia Ferrera 1 collaboration

Isabella Moroni 1 collaboration

Federica Invernizzi 1 collaboration

Flavia Blasevich 1 collaboration

Valentina Bruno 1 collaboration

Sabrina Dusi 1 collaboration

Paola Venco 1 collaboration

Chiara Fiorillo 1 collaboration

Giovanni Baranello 1 collaboration

Francesco Pallotti 1 collaboration

Marina Mora 1 collaboration

Nicola Persico 1 collaboration

Anu Suomalainen 1 collaboration

Cristina Vergara 1 collaboration

Laura Rodríguez-Pascau 1 collaboration

Marc Martinell 1 collaboration

Pilar Pizcueta 1 collaboration

Floriana Cascone 1 collaboration

Andrea Stefano Moro 1 collaboration