V. Tiranti

发表

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.

V. Petruzzella, V. Tiranti, P. Fernandez, 1998, Genomics.

Leigh syndrome transmitted by uniparental disomy of chromosome 9

M. Rocchi, V. Tiranti, M. Zeviani, 1999, Journal of medical genetics.

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.

Robert W. Taylor, V. Tiranti, M. Zeviani, 2017, Cell reports.

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

E. Bertini, M. Rocchi, T. Meitinger, 1998, American journal of human genetics.

Disorders of Niacin, NAD, and Pantothenate Metabolism

V. Tiranti, D. Diodato, A. Ardissone, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

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

Sarah Calvo, Paolo Gasparini, Massimo Zeviani, 2006, Nature Genetics.

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

T. Wieland, T. Strom, V. Tiranti, 2014, American journal of human genetics.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Thomas Meitinger, Gabi Kastenmüller, Jerzy Adamski, 2017, Nature Communications.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Robert W. Taylor, Daniel M Bader, J. Gagneur, 2017, Nature Communications.

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

V. Tiranti, C. Chinopoulos, H. Kawamata, 2011, Human molecular genetics.

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

V. Tiranti, S. Taverna, I. Di Meo, 2022, Cell death & disease.

Inborn errors of coenzyme A metabolism and neurodegeneration

V. Tiranti, I. Di Meo, M. Carecchio, 2018, Journal of inherited metabolic disease.

Classification and molecular pathogenesis of NBIA syndromes.

V. Tiranti, I. Di Meo, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Inborn errors of coenzyme A metabolism and neurodegeneration

V. Tiranti, I. Di Meo, M. Carecchio, 2018, Journal of Inherited Metabolic Disease.

Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.

V. Tiranti, M. Aoun, 2015, The international journal of biochemistry & cell biology.

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

V. Tiranti, M. Zeviani, E. Lamantea, 2009, Biochimica et biophysica acta.

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

V. Tiranti, M. Zeviani, H. Jacobs, 1999, Human molecular genetics.

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

V. Tiranti, I. Di Meo, S. Levi, 2022, Frontiers in Cellular Neuroscience.

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

V. Tiranti, C. Lamperti, D. Brunetti, 2020, Pharmaceutics.

Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective

V. Tiranti, A. Di Donfrancesco, D. Brunetti, 2022, Pharmaceutics.

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

V. Tiranti, M. Zeviani, F. Invernizzi, 2012, Mitochondrion.

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models

E. Bézard, V. Tiranti, V. Broccoli, 2018, Cell reports.

Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy

V. Tiranti, C. Tacchetti, C. La Morgia, 2022, Cell reports.

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

V. Tiranti, M. Aoun, C. Colombelli, 2015, Journal of Inherited Metabolic Disease.

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III

V. Tiranti, M. Zeviani, E. Lamantea, 2002, Neuromuscular Disorders.

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

V. Tiranti, C. Lamperti, I. Di Meo, 2015, EMBO molecular medicine.

AlteredSulfide(H 2 S)MetabolisminEthylmalonic Encephalopathy

V. Tiranti, M. Zeviani, C. Besta, 2013 .

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

V. Tiranti, C. Bucci, A. Perrone, 2017, Human molecular genetics.

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

V. Tiranti, A. Ratti, V. Silani, 2016, Acta neuropathologica communications.

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

M. F. Hossain, V. Tiranti, M. Ruggiu, 2018, Human molecular genetics.

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

V. Tiranti, D. Ghezzi, D. Diodato, 2014, International journal of cell biology.

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

V. Tiranti, R. Rodenburg, M. Schuelke, 2016, EMBO molecular medicine.

Characterization and expression of the mouse endonuclease G gene.

V. Tiranti, M. Zeviani, J. Vaqué, 1997, DNA and cell biology.

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

I. D. de Coo, H. Smeets, V. Tiranti, 2013, Mitochondrion.

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis.

M. Rocchi, V. Tiranti, M. Zeviani, 1995, Genomics.

Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis.

H. Petković, V. Tiranti, D. Reijngoud, 2015, Nature chemical biology.

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

V. Tiranti, O. Sibon, C. Lamperti, 2013, Brain : a journal of neurology.

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

V. Tiranti, S. Dusi, L. Valletta, 2014, Biochemical Society transactions.

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

V. Tiranti, N. Nardocci, L. Chiapparini, 2012, Seminars in pediatric neurology.

Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

V. Tiranti, N. Nardocci, L. Chiapparini, 2012 .

Unusual association of sporadic olivopontocerebellar atrophy and motor neuron disease

V. Tiranti, F. Girotti, D. Testa, 2002, Neurological Sciences.

Depletion of mtDNA: syndromes and genes.

V. Tiranti, M. Zeviani, R. Mineri, 2007, Mitochondrion.

Disorders of mitochondria and related metabolism.

V. Tiranti, M. Zeviani, P. Fernández-Silva, 1997, Current opinion in neurology.

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

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2009, Nature Medicine.

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

P. Bénit, V. Tiranti, H. Prokisch, 2019, Orphanet Journal of Rare Diseases.

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

S. Pappatà, V. Tiranti, L. Romito, 2017, neurogenetics.

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).

V. Tiranti, V. Broccoli, V. Carelli, 2020, Stem cell research.

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

V. Tiranti, M. Zeviani, A. Burlina, 2012, Journal of Inherited Metabolic Disease.

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

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2011 .

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

V. Tiranti, M. Zeviani, G. Uziel, 2008, Journal of Medical Genetics.

Epstein-Barr Virus Immediate-Early Protein Zta Co-Opts Mitochondrial Single-Stranded DNA Binding Protein To Promote Viral and Inhibit Mitochondrial DNA Replication

V. Tiranti, M. Zeviani, P. Lieberman, 2008, Journal of Virology.

Role of adenine nucleotide translocator 1 in mtDNA maintenance.

L. Peltonen, G. Comi, V. Tiranti, 2000, Science.

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

V. Mootha, V. Tiranti, C. Clish, 2012, Molecular genetics and metabolism.

Reduced mitochondrial Ca2+ transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase

V. Tiranti, M. Zeviani, V. Giorgio, 2015, Cell Death and Differentiation.

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

G. Comi, C. Larsson, V. Tiranti, 2001, Nature Genetics.

Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

V. Tiranti, R. Woltjer, O. Sibon, 2017, Scientific Reports.

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy.

V. Tiranti, M. Zeviani, C. Viscomi, 2011, Antioxidants & redox signaling.

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches

V. Tiranti, A. Drousiotou, T. Georgiou, 2011, Clinical genetics.

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

V. Tiranti, M. Zeviani, A. Reyes, 2016, Biochimica et biophysica acta.

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study

V. Tiranti, M. Zeviani, G. Uziel, 1995, Journal of Neurology.

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

D. Turnbull, V. Tiranti, M. Zeviani, 2003, Neurology.

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

G. Comi, V. Tiranti, M. Zeviani, 2007, American journal of human genetics.

Mitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives

V. Tiranti, I. Di Meo, F. Morra, 2023, International journal of molecular sciences.

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

V. Tiranti, M. Zeviani, E. Lamantea, 1997, Human molecular genetics.

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

V. Tiranti, M. Zeviani, L. Nijtmans, 1999, Human molecular genetics.

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+

E. Papaleo, V. Tiranti, H. Prokisch, 2015, Front. Genet..

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.

V. Tiranti, M. Zeviani, E. Lamantea, 2000, Human Molecular Genetics.

Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

G. Comi, T. Meitinger, V. Tiranti, 1999, Annals of neurology.

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

V. Tiranti, V. Broccoli, V. Carelli, 2021, Stem cell reports.

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

E. Bertini, V. Tiranti, R. Carrozzo, 2019, The Journal of clinical investigation.

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

V. Tiranti, M. Zeviani, A. Robinson, 2018, Biochimica et biophysica acta. Molecular basis of disease.

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

V. Tiranti, D. Brunetti, G. d’Amati, 2012, Human molecular genetics.

HAPTER 2 FASTKD 2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

V. Tiranti, M. Zeviani, P. Gasparini, 2010 .

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

V. Tiranti, M. Zeviani, A. Berardinelli, 2009, BMJ Case Reports.

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

N. Pavelka, P. Ricciardi-Castagnoli, V. Tiranti, 2009, PloS one.

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

V. Tiranti, M. Zeviani, P. Gasparini, 2008, American journal of human genetics.

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

V. Tiranti, M. Zeviani, A. Berardinelli, 2006, Journal of Medical Genetics.

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

V. Tiranti, A. Ratti, V. Silani, 2016, Acta neuropathologica communications.

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

V. Tiranti, M. Zeviani, F. Villani, 1991, The Lancet.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

M. Elstner, T. Meitinger, T. Strom, 2011, American journal of human genetics.

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.

V. Tiranti, J. Abdenur, I. Di Meo, 2018, Molecular genetics and metabolism.

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

V. Tiranti, M. Zeviani, D. Diodato, 2016, Brain : a journal of neurology.

Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.

V. Tiranti, M. Zeviani, 2013, Cold Spring Harbor perspectives in biology.

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

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2010, Nature Medicine.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Paolo Gasparini, Brigitte Vollmer, Massimo Zeviani, 2004, American journal of human genetics.

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

V. Tiranti, M. Zeviani, E. Lamantea, 2003, Human molecular genetics.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

P. Svenningsson, T. Meitinger, T. Strom, 2016, American journal of human genetics.

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

F. Foury, V. Tiranti, M. Zeviani, 1999, European Journal of Human Genetics.

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.

S. Pääbo, V. Tiranti, M. Zeviani, 2000, Human molecular genetics.

TFG binds LC3C to regulate ULK1 localization and autophagosome formation

E. Papaleo, V. Tiranti, F. Cecconi, 2021, The EMBO journal.

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

V. Tiranti, M. Zeviani, E. Lamantea, 1999, Neuromuscular Disorders.

A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNALys Gene

N. Savarese, V. Tiranti, M. Zeviani, 1993, European journal of human genetics : EJHG.

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

V. Tiranti, M. Zeviani, P. Girlanda, 1995, Human molecular genetics.

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

V. Tiranti, M. Zeviani, C. Godinot, 2001, Human mutation.

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.

V. Tiranti, M. Zeviani, E. Fernández-Vizarra, 2009, Biochimica et biophysica acta.

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

V. Tiranti, S. Taverna, I. Di Meo, 2022, Cell Death & Disease.

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

V. Tiranti, D. Pareyson, L. Chiapparini, 2021, neurogenetics.

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

G. Comi, C. Larsson, V. Tiranti, 2001, Nature Genetics.

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

V. Tiranti, M. Zeviani, F. Fontanesi, 2004, Human molecular genetics.

The V368i mutation in Twinkle does not segregate with adPEO

V. Tiranti, M. Zeviani, J. Arenas, 2003, Annals of neurology.

Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA.

V. Tiranti, A. Limongelli, 2002, Mitochondrion.

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

V. Tiranti, M. Zeviani, E. Lamantea, 2002, Annals of neurology.

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

G. Comi, V. Tiranti, M. Zeviani, 2001, Neurology.

Searching for genes affecting the structural integrity of the mitochondrial genome.

G. Comi, V. Tiranti, M. Zeviani, 1995, Biochimica et biophysica acta.

Mutations of C 19 orf 12 , coding for a transmembrane glycine zipper containing mitochondrial protein , cause mis-localization of the protein , inability to respond to oxidative stress and increased mitochondrial Ca 2 +

E. Papaleo, V. Tiranti, H. Prokisch, 2015 .

Transcriptional requirements of the distal heavy-strand promoter of mtDNA

V. Tiranti, N. Sondheimer, O. Zollo, 2012, Proceedings of the National Academy of Sciences.

Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB).

M. Rocchi, V. Tiranti, M. Zeviani, 1993, Gene.

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

V. Tiranti, A. Prigione, Isabella Tolle, 2023, EMBO reports.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

V. Tiranti, M. Zeviani, A. Zvulunov, 2012, American journal of human genetics.

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

V. Tiranti, M. Zeviani, E. Lamantea, 1995, Human molecular genetics.

Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation.

Massimo Zeviani, Valeria Tiranti, V. Tiranti, 2005, Cell metabolism.

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.

V. Tiranti, P. Hogarth, D. Crouzier, 2017, Molecular genetics and metabolism.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Jeffrey M. Weiss, Karynne E. Patterson, Gao T. Wang, 2016, American journal of human genetics.

R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome

V. Tiranti, T. Pippucci, N. Nardocci, 2018, neurogenetics.

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

C. Cremers, V. Tiranti, M. Zeviani, 1999, European Journal of Human Genetics.

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

V. Tiranti, V. Broccoli, B. Garavaglia, 2015, Neurobiology of Disease.

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

V. Tiranti, P. Goffrini, C. Dallabona, 2015, Microbial cell.

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

V. Tiranti, S. Levi, 2019, Pharmaceuticals.

Modeling PKAN in Mice and Flies

V. Tiranti, O. Sibon, S. Hayflick, 2015 .

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Stephen W. Wilson, V. Tiranti, J. Rihel, 2016, Nature Communications.

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

V. Tiranti, M. Zeviani, Melike Ersoy, 2020, Molecular genetics and metabolism reports.

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

V. Tiranti, P. Bross, João V. Rodrigues, 2014, PloS one.

Erythema Toxicum

A. L. Wong, V. Tiranti, E. Sobie, 2011, Pediatric Dermatology.

Single-stranded-DNA-binding proteins from human mitochondria and Escherichia coli have analogous physicochemical properties.

V. Tiranti, M. Zeviani, C. Urbanke, 1994, European journal of biochemistry.

Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database.

M. Rocchi, V. Tiranti, M. Zeviani, 1997, Human molecular genetics.

A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis.

V. Tiranti, M. Zeviani, J. Bijl, 1991, Nucleic acids research.

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.

V. Tiranti, M. Zeviani, B. Dallapiccola, 1994, The Journal of clinical investigation.

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

V. Tiranti, M. Zeviani, E. Lamantea, 2001, Annals of neurology.

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

V. Tiranti, V. Broccoli, V. Carelli, 2021, Frontiers in Neurology.

ETHE1 mutations are specific to ethylmalonic encephalopathy

E. Papaleo, V. Tiranti, M. Zeviani, 2005, Journal of Medical Genetics.

Nuclear gene defects in mitochondrial disorders

V. Tiranti, M. Zeviani, L. Nijtmans, 1999, The Italian Journal of Neurological Sciences.

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

T. Meitinger, V. Tiranti, M. Zeviani, 2011, Journal of Medical Genetics.

Phenotypic consequences of a novel SCO2 gene mutation

H. Smeets, V. Tiranti, R. Verdijk, 2008, American journal of medical genetics. Part A.

MR-1S Interactswith PET100andPET117 inModule- Based Assembly of Human Cytochrome c Oxidase

Robert W. Taylor, V. Tiranti, M. Zeviani, 2017 .

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

V. Tiranti, M. Zeviani, G. Uziel, 2005, Journal of Medical Genetics.

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.

V. Tiranti, M. Di Rocco, A. Rossi, 2006, Molecular genetics and metabolism.

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

H. Smeets, V. Tiranti, R. Hintzen, 2006, Genetics in Medicine.

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

V. Tiranti, N. Mitro, Tingting Fu, 2020, International journal of molecular sciences.

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy (Nature Medicine DOI: 10.1038/nm.1907)

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2009 .

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

D. di Bernardo, V. Tiranti, C. Podrini, 2018, Communications Biology.

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

V. Tiranti, P. Pizcueta, M. Martinell, 2023, Pharmaceutics.

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

V. Tiranti, E. Lamantea, D. Ghezzi, 2023, European journal of neurology.

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy

V. Tiranti, M. Zeviani, G. Guazzi, 1995, Journal of Neurology.

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

V. Tiranti, E. Lamantea, F. Blàsevich, 2019, Mitochondrion.

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

V. Tiranti, M. Zeviani, P. Gasparini, 1998, Annals of neurology.

Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack

P. Svenningsson, T. Meitinger, T. Strom, 2022 .

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

S. Pappatà, V. Tiranti, L. Romito, 2017, neurogenetics.

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

V. Tiranti, D. Diodato, I. Di Meo, 2023, International journal of molecular sciences.

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

V. Tiranti, M. Ferrari, S. Taverna, 2016, EMBO molecular medicine.

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration

V. Tiranti, L. Chiapparini, S. Taverna, 2020, International journal of molecular sciences.

Mitochondrial disorders

C. Piantadosi, V. Tiranti, M. Zeviani, 2001, Current opinion in neurology.

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

V. Tiranti, I. Di Meo, S. Marchet, 2022, Journal of Visualized Experiments.

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

V. Tiranti, D. Brunetti, G. d’Amati, 2012 .

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

V. Tiranti, S. Levi, 2019 .

Severe Infantile Hypotonia With Ethylmalonic Aciduria: Case Report

V. Tiranti, M. Zeviani, G. Biberoğlu, 2008, Journal of child neurology.

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

V. Tiranti, V. Broccoli, A. Rizzo, 2021, Stem Cell Research.

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

V. Tiranti, Tatjana M. Hildebrandt, C. Viscomi, 2009, Nature Medicine.

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

V. Tiranti, M. Zeviani, C. Godinot, 2001, Human mutation.

Inhibit Mitochondrial DNA Replication DNA Binding Protein To Promote Viral and Zta Co-Opts Mitochondrial Single-Stranded Epstein-Barr Virus Immediate-Early Protein

Lieberman, V. Tiranti, M. Zeviani, 2007 .

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.

V. Tiranti, M. Zeviani, E. Fernández-Vizarra, 2009, Biochimica et biophysica acta.

Leigh syndrome transmitted by uniparental disomy of chromosome 9

E. Nickerson, V. Tiranti, R. Marzella, 1999, Journal of medical genetics.