Tiranti, Valeria

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

Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 882

Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation

Brunelle, J. K., Bell, E. L., Quesada, N. M., Vercauteren, K., Tiranti, V., Zeviani, M., Scarpulla, R. C., & Chandel, N. S. (2005) · Cell Metabolism

Cancer, Hypoxia, and MetabolismRedox biology and oxidative stress

Cited by 763

Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., et al. (2017) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 590

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

Spinazzola, A., Viscomi, C., Fernandez-Vizarra, E., Carrara, F., D'Adamo, P., Calvo, S., Marsano, R. M., Donnini, C., Weiher, H., Strisciuglio, P., et al. (2006) · Nature Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 427

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

Lamantea, E., Tiranti, V., Bordoni, A., Toscano, A., Bono, F., Servidei, S., Papadimitriou, A., Spelbrink, H., Silvestri, L., Casari, G., et al. (2002) · Annals of Neurology

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 270

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

Iannielli, A., Bido, S., Folladori, L., Segnali, A., Cancellieri, C., Maresca, A., Massimino, L., Rubio, A., Morabito, G., Caporali, L., et al. (2018) · Cell Reports

Parkinson's Disease Mechanisms and TreatmentsCell death mechanisms and regulation

Cited by 239

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

Fernández-Vizarra, E., Tiranti, V., & Zeviani, M. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Mitochondrial Function and PathologyATP Synthase and ATPases Research

Cited by 214

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

Levi, S., & Tiranti, V. (2019) · Pharmaceuticals

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 90

TFG binds LC3C to regulate ULK1 localization and autophagosome formation

Carinci, M., Testa, B., Bordi, M., Milletti, G., Bonora, M., Antonucci, L., Ferraina, C., Carro, M., Kumar, M., Ceglie, D., et al. (2021) · The EMBO Journal

Autophagy in Disease and TherapyCellular transport and secretion

Cited by 25