Valeria Tiranti Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta Biography Publications Institution JoVE Articles Valeria Tiranti has not added a biography. If you are Valeria Tiranti and would like to personalize this page please email our Author Liaison for assistance. Publications Massive Iron Accumulation in PKAN-derived Neurons and Astrocytes: Light on the Human Pathological Phenotype Cell Death & Disease. 02, 2022 | Pubmed ID: 35217637 Novel Deep Intronic Mutation in PLA2G6 Causing Early-onset Parkinson's Disease with Brain Iron Accumulation Through Pseudo-exon Activation Neurogenetics. 10, 2021 | Pubmed ID: 34387792 The Relevance of Mitochondrial DNA Variants Fluctuation During Reprogramming and Neuronal Differentiation of Human IPSCs Stem Cell Reports. 08, 2021 | Pubmed ID: 34329598 Exploiting HiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives Frontiers in Neurology. 2021 | Pubmed ID: 34168607 Generation of Two Human IPSC Lines, FINCBi002-A and FINCBi003-A, Carrying Heteroplasmic Macrodeletion of Mitochondrial DNA Causing Pearson's Syndrome Stem Cell Research. Jan, 2021 | Pubmed ID: 33434818 Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model International Journal of Molecular Sciences. Dec, 2020 | Pubmed ID: 33352696 Ethylmalonic Encephalopathy: Clinical Course and Therapy Response in an Uncommon Mild Case with a Severe ETHE1 Mutation Molecular Genetics and Metabolism Reports. Dec, 2020 | Pubmed ID: 32923369 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) Stem Cell Research. 10, 2020 | Pubmed ID: 32771908 Arabidopsis Thaliana Alternative Dehydrogenases: a Potential Therapy for Mitochondrial Complex I Deficiency? Perspectives and Pitfalls Orphanet Journal of Rare Diseases. 10, 2019 | Pubmed ID: 31665043 Alteration of Mitochondrial Membrane Inner Potential in Three Italian Patients with Megaconial Congenital Muscular Dystrophy Carrying New Mutations in CHKB Gene Mitochondrion. 07, 2019 | Pubmed ID: 30986505 Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition Pharmaceuticals (Basel, Switzerland). Feb, 2019 | Pubmed ID: 30744104 R106C TFG Variant Causes Infantile Neuroaxonal Dystrophy "plus" Syndrome Neurogenetics. 08, 2018 | Pubmed ID: 29971521 Classification and Molecular Pathogenesis of NBIA Syndromes European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Mar, 2018 | Pubmed ID: 29409688 Rare Causes of Early-onset Dystonia-parkinsonism with Cognitive Impairment: a De Novo PSEN-1 Mutation Neurogenetics. Jul, 2017 | Pubmed ID: 28664294 Changes in Red Blood Cell Membrane Lipid Composition: A New Perspective into the Pathogenesis of PKAN Molecular Genetics and Metabolism. 06, 2017 | Pubmed ID: 28456385 Coenzyme Q Deficiency Causes Impairment of the Sulfide Oxidation Pathway EMBO Molecular Medicine. 01, 2017 | Pubmed ID: 27856618 New Genes and Pathomechanisms in Mitochondrial Disorders Unraveled by NGS Technologies Biochimica Et Biophysica Acta. Aug, 2016 | Pubmed ID: 26968897 An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model Andrea Cavaliere*1, Silvia Marchet*1, Ivano Di Meo1, Valeria Tiranti1 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta JoVE 63452 Genetics
An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model Andrea Cavaliere*1, Silvia Marchet*1, Ivano Di Meo1, Valeria Tiranti1 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta JoVE 63452 Genetics
