Valeria Tiranti - Associate Professor
Department and institution: Unit of Molecular Neurogenetics, The Foundation of the Carlo Besta Neurological Institute, IRCCS
tel. +39 02 23942633
see also: ORCID, PubMed
Other related links : Center for the study of Mitochondrial Disorders of Infancy and Childhood
Keywords: mitochondria, neurodegeneration, experimental models
I have a long−standing expertise in mitochondrial and metabolic disorders, including identification of disease genes, biochemical evaluation of the respiratory chain activities, molecular and cellular biology, and identification of pathogenetic mechanisms of diseases. My group performed the characterization of different mouse models and attempted pharmacological treatments in some of them.
Recently we started a series of experiments devoted to the generation of neurons by direct reprogramming of fibroblasts derived from patients affected by neurodegenerative diseases associated with mitochondrial dysfunctions. Moreover, we are generating induced pluripotent stem cells (iPSCs) from fibroblasts of patients affected by neurodegenerative diseases and genetic optic atrophy.
Main topics of the group
- Mitochondrial and metabolic diseases
- Neurodegenerative disorders
- Movement disorders
Current research projects
- 2011-2015 TIRCON, FP7 project, € 379200
- 2014-2017 Marie Curie Initial Training Networks (ITN) Call: FP7-PEOPLE-2012-ITN, Mitochondrial European Educational Training MEET, € 225135
Internal and external collaborators
- Nardocci Nardo, Neuropsichiatric Unit, C. Besta Institute, Italy
- Sonia Levi, San Raffaele Institute , Italy
- Vania Broccoli, CNR, Italy
- Massimo Zeviani, MBU, Cambridge, Uk
- Thomas Klopstock, Germany
- Susan Hayflick, Oregon, USA
- Ody Sibon, Groeningen, NL
- Catarina Quinzii, Columbia University, NY, USA
1. Dionisi-Vici C, Diodato D, Torre G, Picca S, Pariante R, Giuseppe Picardo S, Di Meo I, Rizzo C, Tiranti V, Zeviani M, De Goyet JV. Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. Brain. 2016 Feb 25.
2. Srinivasan B, Baratashvili M, van der Zwaag M, Kanon B, Colombelli C, Lambrechts RA, Schaap O, Nollen EA, Podgoršek A, Kosec G, Petković H, Hayflick S, Tiranti V, Reijngoud DJ, Grzeschik NA, Sibon OC. Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis. Nat Chem Biol. 2015 Aug 31. doi: 10.1038/nchembio.1906.
3. Santambrogio P, Dusi S, Guaraldo M, Rotundo LI, Broccoli V, Garavaglia B, Tiranti V, Levi S. Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients. Neurobiol Dis. 2015 Mar 30. pii: S0969-9961(15)00098-4. doi: 10.1016/j.nbd.2015.02.030.
4. Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet. 2014 Jan 2;94(1):11-22.
5. Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med. 2009; 15(2):200-5.
last update: January 2017