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Research Output 2003 2019

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2019

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles
2018

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

Sharkia, R., Wierenga, K. J., Kessel, A., Azem, A., Bertini, E., Carrozzo, R., Torraco, A., Goffrini, P., Berti, C. C., McCormick, M. E., Plecko, B., Klein, A., Abela, L., Hengel, H., Schöls, L., Shalev, S., Khayat, M., Mahajnah, M. & Spiegel, R., Dec 27 2018, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Genes
Aconitate Hydratase
Autosomal Dominant Optic Atrophy
Retinal Dystrophies
Genetic Databases

ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins

Torraco, A., Stehling, O., Stümpfig, C., Rösser, R., De Rasmo, D., Fiermonte, G., Verrigni, D., Rizza, T., Vozza, A., Di Nottia, M., Diodato, D., Martinelli, D., Piemonte, F., Dionisi-Vici, C., Bertini, E., Lill, R. & Carrozzo, R., Aug 1 2018, In : Human Molecular Genetics. p. 2739–2754 16 p.

Research output: Contribution to journalArticle

Thioctic Acid
Mutation
Nonketotic Hyperglycinemia
Lactic Acidosis
Proteins
2017
Peptide Elongation Factor Tu
Peptide Elongation Factors
Leukoencephalopathies
Mitochondrial DNA
Transfer RNA
2016

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi-Vici, C., Christodoulou, J. & 2 others, Bertini, E. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Sideroblastic Anemia
Lactic Acidosis
Phenotype
Mutation
Cardiomyopathies

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi Vici, C., Christodoulou, J. & 2 others, Bertini, E. S. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Sideroblastic Anemia
Lactic Acidosis
Phenotype
Mutation
Cardiomyopathies

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7

Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M., Santoro, M., Bentivoglio, A. R., Bertini, E., Piemonte, F., Carrozzo, R. & Silvestri, G., Oct 6 2016, In : Clinical Genetics.

Research output: Contribution to journalArticle

Oxidative Stress
Biological Phenomena
Spinal Muscular Atrophy
Mutation
Parkinsonian Disorders

DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M. L. E., Santoro, M., Bentivoglio, A., Bertini, E. S., Piemonte, F., Carrozzo, R. & Silvestri, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Oxidative Stress
Biological Phenomena
Spinal Muscular Atrophy
Mutation
Parkinsonian Disorders

DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M. L. E., Santoro, M., Bentivoglio, A., Bertini, E. S., Piemonte, F., Carrozzo, R. & Silvestri, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Oxidative Stress
Biological Phenomena
Spinal Muscular Atrophy
Mutation
Parkinsonian Disorders

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Cao, M., Donà, M., Valentino, M. L., Semplicini, C., Maresca, A., Cassina, M., Torraco, A., Galletta, E., Manfioli, V., Sorarù, G., Carelli, V., Stramare, R., Bertini, E. S., Carozzo, R., Salviati, L. & Pegoraro, E., Feb 29 2016, (Accepted/In press) In : Neurogenetics. p. 1 1 p.

Research output: Contribution to journalArticle

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., Van Berkel, C. G. M., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi-Vici, C., Vanderver, A., Philip, S. G. & 14 others, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., Van Der Knaap, M. S. & Bertini, E., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Mutation
Electron Transport Complex III
Magnetic Resonance Imaging
Brain Diseases

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., van Berkel, C., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi Vici, C., Vanderver, A., Philip, S. G. & 14 others, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., van der Knaap, M. S. & Bertini, E. S., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Mutation
Electron Transport Complex III
Magnetic Resonance Imaging
Brain Diseases

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

Torraco, A., Ardissone, A., Invernizzi, F., Rizza, T., Fiermonte, G., Niceta, M., Zanetti, N., Martinelli, D., Vozza, A., Verrigni, D., Di Nottia, M., Lamantea, E., Diodato, D., Tartaglia, M., Dionisi-Vici, C., Moroni, I., Farina, L., Bertini, E., Ghezzi, D. & Carrozzo, R., Oct 26 2016, (Accepted/In press) In : Journal of Neurology. p. 1-10 10 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Glycine Decarboxylase Complex H-Protein
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Ketoglutarate Dehydrogenase Complex
Hypertrophic Cardiomyopathy
Electron Transport
Mutation
Lysine-tRNA Ligase
Amino Acyl-tRNA Synthetases
2015

Erratum: MTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription (Cell Metabolism (2009) 9 (499-511))

Wenz, T., Luca, C., Torraco, A. & Moraes, C. T., Oct 6 2015, In : Cell Metabolism. 22, 4, p. 751 1 p.

Research output: Contribution to journalArticle

Mitochondrial diseases part I: Mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors

Torraco, A., Peralta, S., Iommarini, L. & Diaz, F., Mar 1 2015, In : Mitochondrion. 21, p. 76-91 16 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Oxidative Phosphorylation
Inborn Errors Metabolism
Mitochondrial Proteins
Health

Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function

Iommarini, L., Peralta, S., Torraco, A. & Diaz, F., May 1 2015, In : Mitochondrion. 22, p. 96-118 23 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Oxidative Phosphorylation
Mitochondrial Dynamics
Mitochondrial DNA
Quality Control

Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies

Peralta, S., Torraco, A., Iommarini, L. & Diaz, F., 2015, In : Mitochondrion. 23, p. 71-80 10 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Oxidative Phosphorylation
Action Potentials
Therapeutics
Pathology
2014

Effects of levosimendan on mitochondrial function in patients with septic shock: A randomized trial

Torraco, A., Carrozzo, R., Piemonte, F., Pastore, A., Tozzi, G., Verrigni, D., Assenza, M., Orecchioni, A., D'Egidio, A., Marraffa, E., Landoni, G., Bertini, E. & Morelli, A., 2014, In : Biochimie. 102, 1, p. 166-173 8 p.

Research output: Contribution to journalArticle

Septic Shock
Electron Transport
Antioxidants
Mitochondria
Organelle Biogenesis

Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1

Travaglione, S., Loizzo, S., Rizza, T., Del Brocco, A., Ballan, G., Guidotti, M., Vona, R., Di Nottia, M., Torraco, A., Carrozzo, R., Fiorentini, C. & Fabbri, A., 2014, In : FEBS Journal. 281, 15, p. 3473-3488 16 p.

Research output: Contribution to journalArticle

Escherichia coli
Mitochondria
Adenosine Triphosphate
Cyclic AMP-Dependent Protein Kinases
Rett Syndrome

Frataxin silencing inactivates mitochondrial complex i in NSC34 motoneuronal cells and alters glutathione homeostasis

Carletti, B., Piermarini, E., Tozzi, G., Travaglini, L., Torraco, A., Pastore, A., Sparaco, M., Petrillo, S., Carrozzo, R., Bertini, E. & Piemonte, F., Apr 4 2014, In : International Journal of Molecular Sciences. 15, 4, p. 5789-5806 18 p.

Research output: Contribution to journalArticle

ataxia
homeostasis
glutathione
neurons
Neurons

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C. & 9 others, Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., Van Der Knaap, M. S., Ghezzi, D. & Zeviani, M., 2014, In : American Journal of Human Genetics. 95, 3, p. 315-325 11 p.

Research output: Contribution to journalArticle

Cytochrome-c Oxidase Deficiency
Leukoencephalopathies
Mitochondrial Proteins
Mitochondrial Diseases
Oxidoreductases

Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage

Peralta, S., Torraco, A., Wenz, T., Garcia, S., Diaz, F. & Moraes, C. T., Mar 2014, In : Human Molecular Genetics. 23, 6, p. 1399-1412 14 p., ddt526.

Research output: Contribution to journalArticle

Chronic Brain Damage
Electron Transport Complex I
Phenotype
Neurons
Calcium-Calmodulin-Dependent Protein Kinase Type 2
Pulmonary Hypertension
Newborn Infant
Hypertrophic Cardiomyopathy
Echocardiography
Mutation

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency: The chaperon-like effect of vitamin B2

Carrozzo, R., Torraco, A., Fiermonte, G., Martinelli, D., Di Nottia, M., Rizza, T., Vozza, A., Verrigni, D., Diodato, D., Parisi, G., Maiorana, A., Rizzo, C., Pierri, C. L., Zucano, S., Piemonte, F., Bertini, E. & Dionisi-Vici, C., Sep 1 2014, In : Mitochondrion. 18, p. 49-57 9 p.

Research output: Contribution to journalArticle

Mitochondrial Myopathies
Riboflavin
Phenotype
Muscles
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
2013

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Nogueira, C., Barros, J., Sá, M. J., Azevedo, L., Taipa, R., Torraco, A., Meschini, M. C., Verrigni, D., Nesti, C., Rizza, T., Teixeira, J., Carrozzo, R., Pires, M. M., Vilarinho, L. & Santorelli, F. M., May 2013, In : Neurogenetics. 14, 2, p. 153-160 8 p.

Research output: Contribution to journalArticle

Electron Transport Complex III
Psychiatry
Mutation
Genes
Olivopontocerebellar Atrophies
2012

TMEM70: A mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex v biogenesis

Torraco, A., Verrigni, D., Rizza, T., Meschini, M. C., Vazquez-Memije, M. E., Martinelli, D., Bianchi, M., Piemonte, F., Dionisi-Vici, C., Santorelli, F. M., Bertini, E. & Carrozzo, R., Nov 2012, In : Neurogenetics. 13, 4, p. 375-386 12 p.

Research output: Contribution to journalArticle

Adenosine Triphosphate
Lactic Acidosis
Holoenzymes
Hypertrophic Cardiomyopathy
Oxidative Phosphorylation
2011
Mitochondrial DNA
Liver
Fibroblasts
Blood
Tissue

Progressive cavitating leukoencephalopathy associated with respiratory chain complex i deficiency and a novel mutation in NDUFS1

Ferreira, M., Torraco, A., Rizza, T., Fattori, F., Meschini, M. C., Castana, C., Go, N. E., Nargang, F. E., Duarte, M., Piemonte, F., Dionisi-Vici, C., Videira, A., Vilarinho, L., Santorelli, F. M., Carrozzo, R. & Bertini, E., Feb 2011, In : Neurogenetics. 12, 1, p. 9-17 9 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Electron Transport
Fibroblasts
Neurospora crassa
Mutation
2010

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

Bisceglia, L., Zoccolella, S., Torraco, A., Piemontese, M. R., Dell'Aglio, R., Amati, A., De Bonis, P., Artuso, L., Copetti, M., Santorelli, F. M., Serlenga, L., Zelante, L., Bertini, E. & Petruzzella, V., Jun 2010, In : European Journal of Human Genetics. 18, 6, p. 636-641 6 p.

Research output: Contribution to journalArticle

Limb-Girdle Muscular Dystrophies
Muscle Weakness
Genetic Heterogeneity
Mitochondrial DNA
Age of Onset
2009

Mouse models of oxidative phosphorylation defects: Powerful tools to study the pathobiology of mitochondrial diseases

Torraco, A., Diaz, F., Vempati, U. D. & Moraes, C. T., Jan 2009, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1793, 1, p. 171-180 10 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Oxidative Phosphorylation
Mutation
Mitochondrial Proteins
Metabolic Networks and Pathways

mTERF2 Regulates Oxidative Phosphorylation by Modulating mtDNA Transcription

Wenz, T., Luca, C., Torraco, A. & Moraes, C. T., May 14 2009, In : Cell Metabolism. 9, 6, p. 499-511 13 p.

Research output: Contribution to journalArticle

Oxidative Phosphorylation
Mitochondrial DNA
Genetic Promoter Regions
Mitochondrial Proteins
Memory Disorders
2008

Ischemic preconditioning targets the respiration of synaptic mitochondria via protein kinase Cε

Dave, K. R., DeFazio, R. A., Raval, A. P., Torraco, A., Saul, I., Barrientos, A. & Perez-Pinzon, M. A., Apr 16 2008, In : Journal of Neuroscience. 28, 16, p. 4172-4182 11 p.

Research output: Contribution to journalArticle

Ischemic Preconditioning
Protein Kinase C
Mitochondria
Respiration
Phosphorylation

Mouse models of oxidative phosphorylation dysfunction and disease

Vempati, U. D., Torraco, A. & Moraes, C. T., Dec 2008, In : Methods. 46, 4, p. 241-247 7 p.

Research output: Contribution to journalArticle

Oxidative Phosphorylation
Gene Targeting
Genes
Mitochondrial Diseases
Mutation
2007

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

Petruzzella, V., Tessa, A., Torraco, A., Fattori, F., Dotti, M. T., Bruno, C., Cardaioli, E., Papa, S., Federico, A. & Santorelli, F. M., Mar 30 2007, In : Biochemical and Biophysical Research Communications. 355, 1, p. 181-187 7 p.

Research output: Contribution to journalArticle

Leber's Hereditary Optic Atrophy
Optics
Genes
Mitochondrial DNA
RNA Isoforms
2006

Mutations in structural genes of complex I associated with neurological diseases.

Scacco, S., Petruzzella, V., Bertini, E., Luso, A., Papa, F., Bellomo, F., Signorile, A., Torraco, A. & Papa, S., Sep 2006, In : Italian Journal of Biochemistry. 55, 3-4, p. 254-262 9 p.

Research output: Contribution to journalArticle

Genes
Electron Transport Complex I
Defects
Mutation
Cardiolipins

Prefrontal dysfunction in schizophrenia controlling for COMT Val158Met genotype and working memory performance

Bertolino, A., Caforio, G., Petruzzella, V., Latorre, V., Rubino, V., Dimalta, S., Torraco, A., Blasi, G., Quartesan, R., Mattay, V. S., Callicott, J. H., Weinberger, D. R. & Scarabino, T., Oct 30 2006, In : Psychiatry Research - Neuroimaging. 147, 2-3, p. 221-226 6 p.

Research output: Contribution to journalArticle

Catechol O-Methyltransferase
Prefrontal Cortex
Short-Term Memory
Schizophrenia
Genotype

Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA

Zoccolella, S., Torraco, A., Amati, A., Lamberti, P., Serlenga, L., Papa, S. & Petruzzella, V., Jan 2006, In : Functional Neurology. 21, 1, p. 39-41 3 p.

Research output: Contribution to journalArticle

Kearns-Sayre Syndrome
Mitochondrial DNA
Chronic Progressive External Ophthalmoplegia
Mitochondrial Encephalomyopathies
Cerebellar Ataxia
2005

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants

Petruzzella, V., Panelli, D., Torraco, A., Stella, A. & Papa, S., Jul 27 2005, In : FEBS Letters. 579, 17, p. 3770-3776 7 p.

Research output: Contribution to journalArticle

Nonsense Mediated mRNA Decay
Mitochondrial Genes
Genes
Nonsense Codon
Messenger RNA
2004

Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation [4]

Petruzella, V., Zoccolella, S., Amati, A., Torraco, A., Lamberti, P., Carnicella, F., Serlenga, L. & Papa, S., Jan 2004, In : Clinical Genetics. 65, 1, p. 64-65 2 p.

Research output: Contribution to journalArticle

2003

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit

Petruzzella, V., Di Giacinto, G., Scacco, S., Piemonte, F., Torraco, A., Carrozzo, R., Vergari, R., Dionisi-Vici, C., Longo, D., Tessa, A., Papa, S. & Bertini, E., Oct 14 2003, In : Neurology. 61, 7, p. 1017-1018 2 p.

Research output: Contribution to journalArticle