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Research Output 1990 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 1 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 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Saoura, M., Powell, C. A., Kopajtich, R., Alahmad, A., Al-Balool, H. H., Albash, B., Alfadhel, M., Alston, C. L., Bertini, E., Bonnen, P., Bratkovic, D., Carrozzo, R., Donati, M. A., Nottia, M. D., Ghezzi, D., Goldstein, A., Haan, E., Horvath, R., Hughes, J., Invernizzi, F. & 13 others, Lamantea, E., Lucas, B., Pinnock, K-G., Pujantell, M., Rahman, S., Rebelo-Guiomar, P., Santra, S., Verrigni, D., McFarland, R., Prokisch, H., Taylor, R. W., Levinger, L. & Minczuk, M., May 2 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Transfer RNA
Mutation
RNA Precursors
Mitochondrial Diseases

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

Kahn-Kirby, A. H., Amagata, A., Maeder, C. I., Mei, J. J., Sideris, S., Kosaka, Y., Hinman, A., Malone, S. A., Bruegger, J. J., Wang, L., Kim, V., Shrader, W. D., Hoff, K. G., Latham, J. C., Ashley, E. A., Wheeler, M. T., Bertini, E., Carrozzo, R., Martinelli, D., Dionisi-Vici, C. & 9 others, Chapman, K. A., Enns, G. M., Gahl, W., Wolfe, L., Saneto, R. P., Johnson, S. C., Trimmer, J. K., Klein, M. B. & Holst, C. R., Mar 28 2019, In : PLoS One. 14, 3, p. e0214250

Research output: Contribution to journalArticle

Mitochondrial Diseases
epilepsy
Arachidonate 15-Lipoxygenase
lipoxygenase
Epilepsy
2018

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

Signes, A., Cerutti, R., Dickson, A. S., Benincá, C., Hinchy, E. C., Ghezzi, D., Carrozzo, R., Bertini, E., Murphy, M. P., Nathan, J. A., Viscomi, C., Fernandez-Vizarra, E. & Zeviani, M., Dec 14 2018, In : EMBO Molecular Medicine. 21 p.

Research output: Contribution to journalArticle

Ubiquitination
Proteasome Endopeptidase Complex
Oxidoreductases
Cytochrome-c Oxidase Deficiency
Leukoencephalopathies

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Vahidi Mehrjardi, M. Y., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, N., Maroofian, R., Servidei, S. & Tartaglia, M., Jul 24 2018, In : Neurology. 91, 4, p. e319-e330

Research output: Contribution to journalArticle

Cerebellum
Exome
Autophagy
Zebrafish
Neurodegenerative Diseases

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

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis

Catania, A., Ardissone, A., Verrigni, D., Legati, A., Reyes, A., Lamantea, E., Diodato, D., Tonduti, D., Imperatore, V., Pinto, A. M., Moroni, I., Bertini, E., Robinson, A., Carrozzo, R., Zeviani, M. & Ghezzi, D., May 2018, In : Journal of Human Genetics. 63, 5, p. 563-568 6 p.

Research output: Contribution to journalArticle

Leigh Disease
Exome
Messenger RNA
RNA Splice Sites
Mutation

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

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Castiglioni, C., Fattori, F., Udd, B., de Los Angeles Avaria, M., Suarez, B., D'Amico, A., Malandrini, A., Carrozzo, R., Verrigni, D., Bertini, E. & Tasca, G., Mar 2018, In : European Journal of Human Genetics. 26, 3, p. 367-373 7 p.

Research output: Contribution to journalArticle

Glaucoma
Cataract
Distal Myopathies
Slow-Twitch Muscle Fibers
Biopsy

Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy

Luigetti, M., Primiano, G., Bisogni, G., Cuccagna, C., Carrozzo, R., Obici, L., Bernardo, D., Sancricca, C. & Servidei, S., Jan 1 2018, (Accepted/In press) In : Amyloid.

Research output: Contribution to journalArticle

Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy

Luigetti, M., Primiano, G., Bisogni, G., Cuccagna, C., Carrozzo, R., Obici, L., Bernardo, D., Sancricca, C. & Servidei, S., 2018, In : Amyloid.

Research output: Contribution to journalArticle

Type A Niemann-Pick Disease
Niemann-Pick Diseases
Sphingomyelin Phosphodiesterase
Biomarkers
Sphingolipids

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders

Semeraro, M., Boenzi, S., Carrozzo, R., Diodato, D., Martinelli, D., Olivieri, G., Antonetti, G., Sacchetti, E., Catesini, G., Rizzo, C. & Dionisi-Vici, C., Jun 2018, In : Clinica Chimica Acta. 481, p. 156-160 5 p.

Research output: Contribution to journalArticle

Kearns-Sayre Syndrome
Organic acids
Mitochondrial DNA
Acids
Metabolites
2017

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Rokicki, D., Pajdowska, M., Trubicka, J., Thong, M. K., Ciara, E., Piekutowska-Abramczuk, D., Pronicki, M., Sikora, R., Haidar, R., Ołtarzewski, M., Jabłońska, E., Muthukumarasamy, P., Sthaneswar, P., Gan, C. S., Krajewska-Walasek, M., Carrozzo, R., Verrigni, D., Semeraro, M., Rizzo, C., Taurisano, R. & 6 others, Alhaddad, B., Kovacs-Nagy, R., Haack, T. B., Dionisi-Vici, C., Pronicka, E. & Wortmann, S. B., Aug 1 2017, In : Clinica Chimica Acta. 471, p. 95-100 6 p.

Research output: Contribution to journalArticle

Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamoyl-Phosphate Synthase (Ammonia)
Inborn Urea Cycle Disorder
Differential Diagnosis
Newborn Infant

Identification of a Genetic Variation in ERAP1 Aminopeptidase that Prevents Human Cytomegalovirus miR-UL112-5p-Mediated Immunoevasion

Romania, P., Cifaldi, L., Pignoloni, B., Starc, N., D'Alicandro, V., Melaiu, O., Pira, G. L., Giorda, E., Carrozzo, R., Bergvall, M., Bergström, T., Alfredsson, L., Olsson, T., Kockum, I., Seppälä, I., Lehtimäki, T., Hurme, M. A., Hengel, H., Santoni, A., Cerboni, C. & 3 others, Locatelli, F., D'Amato, M. & Fruci, D., Jul 25 2017, In : Cell Reports. 20, 4, p. 846-853 8 p.

Research output: Contribution to journalArticle

Aminopeptidases
3' Untranslated Regions
Cytomegalovirus
Fibroblasts
Immune Evasion

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L. & 2 others, Carrozzo, R. & Ghezzi, D., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 89

Research output: Contribution to journalArticle

Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L. & 2 others, Carrozzo, R. & Ghezzi, D., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy
Peptide Elongation Factor Tu
Peptide Elongation Factors
Leukoencephalopathies
Mitochondrial DNA
Transfer RNA
ataxia
Friedreich Ataxia
antioxidants
Motor Neurons
Antioxidants
Mosaicism
Collagen
Mutation
Muscular Diseases
Phenotype

The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells

Pezzini, F., Bianchi, M., Benfatto, S., Griggio, F., Doccini, S., Carrozzo, R., Dapkunas, A., Delledonne, M., Santorelli, F. M., Lalowski, M. M. & Simonati, A., 2017, In : Frontiers in Molecular Neuroscience. 10, p. 266

Research output: Contribution to journalArticle

Gene Regulatory Networks
Genes
Proteins
Computational Biology
Lysosomal-Associated Membrane Protein 2

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Piano Mortari, E., Folgiero, V., Marcellini, V., Romania, P., Bellacchio, E., D'Alicandro, V., Bocci, C., Carrozzo, R., Martinelli, D., Petrini, S., Axiotis, E., Farroni, C., Locatelli, F., Schara, U., Pilz, D. T., Jungbluth, H., Dionisi-Vici, C. & Carsetti, R., Dec 1 2017, In : Autophagy. p. 1-16 16 p.

Research output: Contribution to journalArticle

Autophagy
Adaptive Immunity
Innate Immunity
Nucleic Acids
B-Lymphocytes
2016
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease

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

Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB

Maio, N., Ghezzi, D., Verrigni, D., Rizza, T., Bertini, E. S., Martinelli, D., Zeviani, M., Singh, A., Carrozzo, R. & Rouault, T. A., Feb 9 2016, In : Cell Metabolism. 23, 2, p. 292-302 11 p.

Research output: Contribution to journalArticle

Riboflavin
Succinic Acid
sulofenur
Mutation
Leukoencephalopathies

Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB

Maio, N., Ghezzi, D., Verrigni, D., Rizza, T., Bertini, E., Martinelli, D., Zeviani, M., Singh, A., Carrozzo, R. & Rouault, T. A., Feb 9 2016, In : Cell Metabolism. 23, 2, p. 292-302 11 p.

Research output: Contribution to journalArticle

Riboflavin
Succinic Acid
sulofenur
Mutation
Leukoencephalopathies

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

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

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M. & 14 others, Jouvencel, P., Burlina, A., Stangoni, G., Bertini, E., Redonnet-Vernhet, I., Wibrand, F., Dionisi-Vici, C., Uusimaa, J., Vieira, P., Osorio, A. N., McFarland, R., Taylor, R. W., Holme, E. & Ostergaard, E., Mar 1 2016, In : Journal of Inherited Metabolic Disease. 39, 2, p. 243-252 10 p.

Research output: Contribution to journalArticle

Succinate-CoA Ligases
Genetic Association Studies
Mutation
Missense Mutation
Methylmalonic Acid

Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma Cells

Pezzini, F., Bettinetti, L., Di Leva, F., Bianchi, M., Zoratti, E., Carrozzo, R., Santorelli, F. M., Delledonne, M., Lalowski, M. & Simonati, A., Jul 15 2016, (Accepted/In press) In : Cellular and Molecular Neurobiology. p. 1-18 18 p.

Research output: Contribution to journalArticle

Neuroblastoma
Semaphorins
Nerve Growth Factor Receptors
Tretinoin
Computational Biology
2015

'Behr syndrome' with OPA1 compound heterozygote mutations

Carelli, V., Sabatelli, M., Carrozzo, R., Rizza, T., Schimpf, S., Wissinger, B., Zanna, C., Rugolo, M., La Morgia, C., Caporali, L., Carbonelli, M., Barboni, P., Tonon, C., Lodi, R. & Bertini, E., Jan 1 2015, In : Brain. 138, p. e321

Research output: Contribution to journalArticle

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Brea-Calvo, G., Haack, T. B., Karall, D., Ohtake, A., Invernizzi, F., Carrozzo, R., Kremer, L., Dusi, S., Fauth, C., Scholl-Bürgi, S., Graf, E., Ahting, U., Resta, N., Laforgia, N., Verrigni, D., Okazaki, Y., Kohda, M., Martinelli, D., Freisinger, P., Strom, T. M. & 10 others, Meitinger, T., Lamperti, C., Lacson, A., Navas, P., Mayr, J. A., Bertini, E., Murayama, K., Zeviani, M., Prokisch, H. & Ghezzi, D., Feb 5 2015, In : American Journal of Human Genetics. 96, 2, p. 309-317 9 p.

Research output: Contribution to journalArticle

coenzyme Q10
Mitochondrial Diseases
Mutation
Electron Transport
Respiratory Insufficiency
Pyruvate Dehydrogenase Complex Deficiency Disease
Thiamine
Dystonia
Deficiency Diseases
Corpus Striatum
2014
Type C Niemann-Pick Disease
Ionization
Esters
Filipin
Plasmas

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

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Kopajtich, R., Nicholls, T. J., Rorbach, J., Metodiev, M. D., Freisinger, P., Mandel, H., Vanlander, A., Ghezzi, D., Carrozzo, R., Taylor, R. W., Marquard, K., Murayama, K., Wieland, T., Schwarzmayr, T., Mayr, J. A., Pearce, S. F., Powell, C. A., Saada, A., Ohtake, A., Invernizzi, F. & 31 others, Lamantea, E., Sommerville, E. W., Pyle, A., Chinnery, P. F., Crushell, E., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Assouline, Z., Rio, M., Feillet, F., Mousson De Camaret, B., Chretien, D., Munnich, A., Menten, B., Sante, T., Smet, J., Régal, L., Lorber, A., Khoury, A., Zeviani, M., Strom, T. M., Meitinger, T., Bertini, E. S., Van Coster, R., Klopstock, T., Rötig, A., Haack, T. B., Minczuk, M. & Prokisch, H., Dec 4 2014, In : American Journal of Human Genetics. 95, 6, p. 708-720 13 p.

Research output: Contribution to journalArticle

Lactic Acidosis
Hypertrophic Cardiomyopathy
Brain Diseases
Mutation
Mitochondrial Proteins
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)