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Genetics

D-Index
73
Citations
16901
World Ranking
2063
National Ranking
35

Overview

Valeria Tiranti is affiliated with the Istituto Neurologico Carlo Besta in Italy, contributing extensively to the fields of biochemistry, genetics, and molecular biology. Their research spans a broad range of topics related to mitochondrial function, genetic disorders, and neurological diseases.

The scientist's work is primarily situated within several subfields, including molecular biology, neurology, clinical biochemistry, cellular and molecular neuroscience, and epidemiology. Their focus on mitochondrial health and pathology is reflected in the main research areas they cover.

  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • Neurological Diseases and Metabolism
  • ATP Synthase and ATPases Research
  • RNA Regulation and Disease
  • Porphyrin Metabolism and Disorders
  • Hereditary Neurological Disorders

Valeria Tiranti has contributed to a variety of research articles published in several scientific venues. The most frequent publication venues include:

  • Zenodo (CERN European Organization for Nuclear Research)
  • International Journal of Molecular Sciences
  • Stem Cell Research
  • Pharmaceutics
  • Frontiers in Cellular Neuroscience

The following representative papers from recent years illustrate the scope of their research:

  • "Therapeutic Approaches to Treat Mitochondrial Diseases: "One-Size-Fits-All" and "Precision Medicine" Strategies," 2020, Pharmaceutics
  • "Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy," 2022, Cell Reports
  • "Mitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives," 2023, International Journal of Molecular Sciences
  • "Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype," 2022, Cell Death and Disease
  • "Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective," 2022, Pharmaceutics

Collaboration forms a significant part of Tiranti's research output. Frequent co-authors include:

  • Ivano Di Meo (30 joint publications)
  • Camille Peron (18 joint publications)
  • Andrea Cavaliere (13 joint publications)
  • Chiara Cavestro (13 joint publications)
  • Valério Carelli (10 joint publications)

Best Publications

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

    Johannes N. Spelbrink;Fang Yuan Li;Valeria Tiranti;Kaisu Nikali

  • Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation

    Joslyn K. Brunelle;Eric L. Bell;Nancy M. Quesada;Kristel Vercauteren

  • Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance

    Jyrki Kaukonen;Jukka K. Juselius;Valeria Tiranti;Aija Kyttälä

  • Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

    Valeria Tiranti;Konstanze Hoertnagel;Rosalba Carrozzo;Claudia Galimberti

  • Genetic diagnosis of Mendelian disorders via RNA sequencing

    Laura S. Kremer;Daniel M. Bader;Daniel M. Bader;Christian Mertes;Robert Kopajtich

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

    Antonella Spinazzola;Carlo Viscomi;Erika Fernandez-Vizarra;Franco Carrara

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

    M. Zeviani;C. Gellera;C. Antozzi;M. Rimoldi

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

    Valeria Tiranti;Carlo Viscomi;Tatjana Hildebrandt;Ivano Di Meo

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

    Eleonora Lamantea;Valeria Tiranti;Andreina Bordoni;Antonio Toscano

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

    Karin Tuschl;Esther Meyer;Leonardo E Valdivia;Ningning Zhao

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

    Erika Fernández-Vizarra;Valeria Tiranti;Massimo Zeviani

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

    Valeria Tiranti;Patrick Chariot;Francesco Carella;Antonio Toscano

  • Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

    Monika B. Hartig;Arcangela Iuso;Tobias Haack;Tomasz Kmiec

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

    Valeria Tiranti;Anna Savoia;Francesca Forti;Maria Felicia D'Apolito

  • Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

    Lucia Valente;Valeria Tiranti;René Massimiliano Marsano;Edoardo Malfatti

  • Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

    Valeria Tiranti;Pio D'Adamo;Egill Briem;Gianfrancesco Ferrari

  • Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

    Sabrina Dusi;Lorella Valletta;Tobias B. Haack;Yugo Tsuchiya

  • 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 ☆

    Vittoria Petruzzella;Valeria Tiranti;Patricio Fernandez;Paola Ianna

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

    A. Agostino;L. Valletta;P. F. Chinnery;G. Ferrari

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

    Massimo Zeviani;Francesco Muntoni;Nicola Savarese;Gigliola Serra

Frequent Co-Authors

Massimo Zeviani
Massimo Zeviani University of Padua
Eleonora Lamantea
Eleonora Lamantea Istituto Neurologico Carlo Besta
Holger Prokisch
Holger Prokisch Technical University of Munich
Tobias B. Haack
Tobias B. Haack University of Tübingen
Thomas Meitinger
Thomas Meitinger Technical University of Munich
Giacomo P. Comi
Giacomo P. Comi University of Milan
Graziella Uziel
Graziella Uziel Istituto Neurologico Carlo Besta
Daniele Ghezzi
Daniele Ghezzi University of Milan
Mariano Rocchi
Mariano Rocchi University of Bari Aldo Moro
Paolo Gasparini
Paolo Gasparini University of Trieste

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