Works by Tiranti, Valeria
Results: 66
Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype.
- Published in:
- Cell Death & Disease, 2022, v. 13, n. 2, p. 1, doi. 10.1038/s41419-022-04626-x
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- Publication type:
- Article
Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0200-x
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- Publication type:
- Article
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
- Published in:
- International Journal of Cell Biology, 2014, p. 1, doi. 10.1155/2014/787956
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- Publication type:
- Article
Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 7, p. 2079, doi. 10.1111/ene.15814
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- Publication type:
- Article
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency.
- Published in:
- Human Mutation, 2001, v. 17, n. 5, p. 374, doi. 10.1002/humu.1112
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- Publication type:
- Article
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 24, p. 5294, doi. 10.1093/hmg/dds380
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- Publication type:
- Article
adPEO mutations in ANT1 impair ADP–ATP translocation in muscle mitochondria.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 15, p. 2964, doi. 10.1093/hmg/ddr200
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- Publication type:
- Article
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 923, doi. 10.1093/hmg/ddh108
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- Publication type:
- Article
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 4, p. 399, doi. 10.1093/hmg/ddg038
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- Publication type:
- Article
Genetic diagnosis of Mendelian disorders via RNA sequencing.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/ncomms15824
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- Publication type:
- Article
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
- Published in:
- Nature Communications, 2016, v. 7, n. 5, p. 11601, doi. 10.1038/ncomms11601
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- Article
The V368i mutation in Twinkle does not segregate with adPEO.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 2, p. 278
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- Publication type:
- Article
Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 2, p. 211, doi. 10.1002/ana.10278
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- Publication type:
- Article
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
- Published in:
- 2001
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- Publication type:
- journal article
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 347, doi. 10.1007/s10048-021-00667-0
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- Publication type:
- Article
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
- Published in:
- Neurogenetics, 2017, v. 18, n. 3, p. 175, doi. 10.1007/s10048-017-0518-4
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- Publication type:
- Article
A novel mutation in the mitochondrial tRNA<sup>Val</sup> gene associated with a complex neurological presentation.
- Published in:
- Annals of Neurology, 1998, v. 43, n. 1, p. 98, doi. 10.1002/ana.410430116
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- Publication type:
- Article
Correction to: Fetal and obstetrics manifestations of mitochondrial diseases.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca<sup>2+</sup>.
- Published in:
- Frontiers in Genetics, 2015, p. 1, doi. 10.3389/fgene.2015.00185
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- Publication type:
- Article
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2733, doi. 10.1093/hmg/9.18.2733
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- Publication type:
- Article
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2533, doi. 10.1093/hmg/8.13.2533
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- Publication type:
- Article
Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 12, p. 2275, doi. 10.1093/hmg/8.12.2275
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- Publication type:
- Article
Identification of the Gene Encoding the Human Mitochondrial RNA Polymerase (h-mtRPOL) by Cyberscreening of the Expressed Sequence Tags Database.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 4, p. 615, doi. 10.1093/hmg/6.4.615
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- Publication type:
- Article
A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's Syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 2, p. 221, doi. 10.1093/hmg/6.2.221
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- Publication type:
- Article
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho° transformants.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2017
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- Publication type:
- Article
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1421
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- Publication type:
- Article
PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation.
- Published in:
- Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.878103
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- Publication type:
- Article
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.
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- 2019
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- Publication type:
- journal article
Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.
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- 2023
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- Publication type:
- Literature Review
Mitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives.
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- 2023
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- Publication type:
- Literature Review
Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9707, doi. 10.3390/ijms21249707
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- Publication type:
- Article
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3664, doi. 10.3390/ijms21103664
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- Publication type:
- Article
Modeling mitochondrial DNA diseases: from base editing to pluripotent stem‐cell‐derived organoids.
- Published in:
- EMBO Reports, 2023, v. 24, n. 4, p. 1, doi. 10.15252/embr.202255678
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- Publication type:
- Article
PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived Astrocytes.
- Published in:
- Pharmaceutics, 2023, v. 15, n. 1, p. 202, doi. 10.3390/pharmaceutics15010202
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- Publication type:
- Article
Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective.
- Published in:
- Pharmaceutics, 2022, v. 14, n. 6, p. 1287, doi. 10.3390/pharmaceutics14061287
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- Publication type:
- Article
Therapeutic Approaches to Treat Mitochondrial Diseases: "One-Size-Fits-All" and "Precision Medicine" Strategies.
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- Pharmaceutics, 2020, v. 12, n. 11, p. 1083, doi. 10.3390/pharmaceutics12111083
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- Publication type:
- Article
Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition.
- Published in:
- Pharmaceuticals (14248247), 2019, v. 12, n. 1, p. 27, doi. 10.3390/ph12010027
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- Article
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 385, doi. 10.1038/sj.ejhg.5200640
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- Publication type:
- Article
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 2, p. 140, doi. 10.1038/sj.ejhg.5200244
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- Publication type:
- Article
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA<sup>Ser(UCN)</sup> gene.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 45, doi. 10.1038/sj.ejhg.5200247
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- Publication type:
- Article
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
- Published in:
- Nature Medicine, 2010, v. 16, n. 8, p. 869, doi. 10.1038/nm.2188
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- Publication type:
- Article
Erratum: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
- Published in:
- 2009
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- Publication type:
- Correction Notice
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
- Published in:
- Nature Medicine, 2009, v. 15, n. 2, p. 200, doi. 10.1038/nm.1907
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- Publication type:
- Article
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
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- Publication type:
- Article
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 223, doi. 10.1038/90058
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- Publication type:
- Article
Inborn errors of coenzyme A metabolism and neurodegeneration.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 49, doi. 10.1002/jimd.12026
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- Publication type:
- Article
Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 123, doi. 10.1007/s10545-014-9770-z
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- Publication type:
- Article
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 451, doi. 10.1007/s10545-011-9408-3
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- Publication type:
- Article
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 3, p. 499, doi. 10.1093/hmg/ddx419
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- Publication type:
- Article
Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 15, p. 2961, doi. 10.1093/hmg/ddx186
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- Publication type:
- Article