Her work on Mutation is being expanded to include thematically relevant topics such as Gene mutation. Many of her studies on Gene involve topics that are commonly interrelated, such as Mitochondrial myopathy. She integrates Mitochondrial myopathy and Mitochondrial disease in her research. By researching both Mitochondrial disease and Heteroplasmy, Valeria Tiranti produces research that crosses academic boundaries. She undertakes interdisciplinary study in the fields of Heteroplasmy and Mitochondrial DNA through her works. The study of Mitochondrial DNA is intertwined with the study of External ophthalmoplegia in a number of ways. Her work in Genetics is not limited to one particular discipline; it also encompasses Gene mutation. Her Internal medicine study frequently draws connections to other fields, such as Myopathy. Myopathy is closely attributed to Internal medicine in her study.
Valeria Tiranti performs integrative study on Gene and Phenotype. In her research, she undertakes multidisciplinary study on Phenotype and Gene. She integrates several fields in her works, including Genetics and Molecular biology. She applies her multidisciplinary studies on Molecular biology and Cell biology in her research. Her study connects Respiratory chain and Cell biology. Respiratory chain and Genetics are frequently intertwined in her study. Her study ties her expertise on Compound heterozygosity together with the subject of Mutation. Her work often combines Mitochondrion and Oxidative phosphorylation studies. With her scientific publications, her incorporates both Oxidative phosphorylation and Mitochondrion.
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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.
Nature Genetics (2001)
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation
Joslyn K. Brunelle;Eric L. Bell;Nancy M. Quesada;Kristel Vercauteren.
Cell Metabolism (2005)
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.
American Journal of Human Genetics (1998)
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)
M. Zeviani;C. Gellera;C. Antozzi;M. Rimoldi.
The Lancet (1991)
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.
Nature Genetics (2006)
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura S. Kremer;Daniel M. Bader;Daniel M. Bader;Christian Mertes;Robert Kopajtich.
Nature Communications (2017)
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
Valeria Tiranti;Carlo Viscomi;Tatjana Hildebrandt;Ivano Di Meo.
Nature Medicine (2009)
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.
Annals of Neurology (2002)
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.
Human Molecular Genetics (1995)
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