about
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesSyndromic parkinsonism and dementia associated with OPA1 missense mutationsThe background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicityRare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyDisruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors.Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies.Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathwaysMitochondrial optic neuropathies: how two genomes may kill the same cell type?The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α.Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.PGC-1alpha/beta induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disorders.Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.Targeting respiratory complex I to prevent the Warburg effect.Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization.Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.Analysis of the mitochondrial proteome of cybrid cells harbouring a truncative mitochondrial DNA mutation in respiratory complex I.Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment.Mitochondrial metabolism and energy sensing in tumor progression.A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function.The antioxidant function of Bcl-2 preserves cytoskeletal stability of cells with defective respiratory complex I.Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochrome b gene.A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assembly.Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.Non-Canonical Mechanisms Regulating Hypoxia-Inducible Factor 1 Alpha in Cancer.Packaging and transfer of mitochondrial DNA via exosomes regulate escape from dormancy in hormonal therapy-resistant breast cancer.Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.A comprehensive characterization of mitochondrial DNA mutations in glioblastoma multiforme.Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization.Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases.The Oncojanus Paradigm of Respiratory Complex I.Tuning Cysteine Reactivity and Sulfenic Acid Stability by Protein Microenvironment in Glyceraldehyde-3-Phosphate Dehydrogenases of Arabidopsis thaliana
P50
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Luisa Iommarini
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Luisa Iommarini
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Luisa Iommarini
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Luisa Iommarini
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type
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Luisa Iommarini
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Luisa Iommarini
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Luisa Iommarini
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Luisa Iommarini
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Luisa Iommarini
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Luisa Iommarini
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Luisa Iommarini
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Luisa Iommarini
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P108
P106
P1153
16549467300
P21
P31
P496
0000-0002-6804-7302