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 माइटोकॉन्ड्रियल डिसफंक्शन का अध्ययन करने के लिए एक इन विट्रो दृष्टिकोण: एक साइब्रिड मॉडल 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
माइटोकॉन्ड्रियल डिसफंक्शन का अध्ययन करने के लिए एक इन विट्रो दृष्टिकोण: एक साइब्रिड मॉडल 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