Teresa Rizza

Research output

Research output per year 2001 2020

• 53 Article

Research output per year

Research output per year

Search results

• 2020

  A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly: Neurobiology of Disease

  Di Nottia, M., Marchese, M., Verrigni, D., Mutti, C. D., Torraco, A., Oliva, R., Fernandez-Vizarra, E., Morani, F., Trani, G., Rizza, T., Ghezzi, D., Ardissone, A., Nesti, C., Vasco, G., Zeviani, M., Minczuk, M., Bertini, E., Santorelli, F. M. & Carrozzo, R., 2020, In: Neurobiol. Dis.. 141

  Research output: Contribution to journal › Article › peer-review

  • Mitochondrial Ribosomes 100%
  • Ribosomal Proteins 76%
  • Neurobiology 71%
  • Mitochondrial Proteins 69%
  • Movement Disorders 68%

• A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

  Di Nottia, M., Marchese, M., Verrigni, D., Mutti, C. D., Torraco, A., Oliva, R., Fernandez-Vizarra, E., Morani, F., Trani, G., Rizza, T., Ghezzi, D., Ardissone, A., Nesti, C., Vasco, G., Zeviani, M., Minczuk, M., Bertini, E., Santorelli, F. M. & Carrozzo, R., Jul 2020, In: Neurobiology of Disease. 141, 104880.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mitochondrial Ribosomes 100%
  • Ribosomal Proteins 76%
  • Mitochondrial Proteins 69%
  • Movement Disorders 68%
  • Mutation 34%

• A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl⁻/H⁺-Exchanger, Causes Early-Onset Neurodegeneration

  Polovitskaya, M. M., Barbini, C., Martinelli, D., Harms, F. L., Cole, F. S., Calligari, P., Bocchinfuso, G., Stella, L., Ciolfi, A., Niceta, M., Rizza, T., Shinawi, M., Sisco, K., Johannsen, J., Denecke, J., Carrozzo, R., Wegner, D. J., Kutsche, K., Tartaglia, M. & Jentsch, T. J., Dec 3 2020, In: American Journal of Human Genetics. 107, 6, p. 1062-1077 16 p.

  Research output: Contribution to journal › Article › peer-review

  • Gain of Function Mutation 100%
  • Endosomes 84%
  • Vacuoles 80%
  • Neurodegenerative Diseases 65%
  • Transfection 64%

• Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism

  Martinelli, S., Cordeddu, V., Galosi, S., Lanzo, A., Palma, E., Pannone, L., Ciolfi, A., Di Nottia, M., Rizza, T., Bocchinfuso, G., Traversa, A., Caputo, V., Farrotti, A., Carducci, C., Bernardini, L., Cogo, S., Paglione, M., Venditti, M., Bentivoglio, A., Ng, J. & 13 others, Kurian, M. A., Civiero, L., Greggio, E., Stella, L., Trettel, F., Sciaccaluga, M., Roseti, C., Carrozzo, R., Fucile, S., Limatola, C., Di Schiavi, E., Tartaglia, M. & Leuzzi, V., 2020, In: Parkinsonism and Related Disorders. 72, p. 75-79 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Parkinsonian Disorders 100%
  • Phenotype 54%
  • Whole Exome Sequencing 54%
  • Mutation 51%
  • Computer Simulation 43%
• 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 journal › Article › peer-review

  • Dynamin I 100%
  • Mitochondrial encephalopathy 99%
  • Mitochondria 49%
  • Peroxisomes 38%
  • Muscles 36%

• 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 journal › Article › peer-review

  • Dynamin I 100%
  • Mitochondrial encephalopathy 99%
  • Mitochondria 49%
  • Peroxisomes 38%
  • Muscles 36%
• 2018

  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 journal › Article › peer-review

  • Cerebellum 100%
  • Whole Exome Sequencing 86%
  • Zebrafish 73%
  • Autophagy 69%
  • Neurodegenerative Diseases 63%

• Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

  Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In: Human Molecular Genetics. 27, 11, p. 1892-1904 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Spastic Ataxia 100%
  • Kinesin 72%
  • Microtubules 55%
  • Spindle Apparatus 46%
  • Tubulin 40%

• 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 journal › Article › peer-review

  • Multiple Mitochondrial Dysfunctions Syndrome 100%
  • Thioctic Acid 61%
  • Mutation 38%
  • Nonketotic Hyperglycinemia 38%
  • Mitochondrial encephalopathy 38%
• 2017

  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 journal › Article › peer-review

  • Optic Atrophy 100%
  • Mitochondrial Diseases 56%
  • Mutation 42%
  • Autosomal Dominant Optic Atrophy 24%
  • Eye Manifestations 19%

• 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 journal › Article › peer-review

  • Optic Atrophy 100%
  • Mitochondrial Diseases 56%
  • Mutation 42%
  • Autosomal Dominant Optic Atrophy 24%
  • Eye Manifestations 19%

• Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

  Di Nottia, M., Montanari, A., Verrigni, D., Oliva, R., Torraco, A., Fernandez-Vizarra, E., Diodato, D., Rizza, T., Bianchi, M., Catteruccia, M., Zeviani, M., Dionisi-Vici, C., Francisci, S., Bertini, E. & Carrozzo, R., Apr 1 2017, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 4, p. 961-967 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Peptide Elongation Factor Tu 100%
  • Peptide Elongation Factors 89%
  • Leukoencephalopathies 86%
  • Mitochondrial DNA 68%
  • Transfer RNA 47%
• 2016

  A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

  Diodato, D., Tasca, G., Verrigni, D., D'Amico, A., Rizza, T., Tozzi, G., Martinelli, D., Verardo, M., Invernizzi, F., Nasca, A., Bellacchio, E., Ghezzi, D., Piemonte, F., Dionisi-Vici, C., Carrozzo, R. & Bertini, E., Mar 1 2016, In: European Journal of Human Genetics. 24, 3, p. 463-466 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Apoptosis Inducing Factor 100%
  • Motor Neuron Disease 89%
  • Cowchock syndrome 84%
  • Mitochondrial encephalopathy 58%
  • Cytochrome-c Oxidase Deficiency 56%

• A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

  Diodato, D., Tasca, G., Verrigni, D., D'Amico, A., Rizza, T., Tozzi, G., Martinelli, D., Verardo, M., Invernizzi, F., Nasca, A., Bellacchio, E., Ghezzi, D., Piemonte, F., Dionisi Vici, C., Carrozzo, R. & Bertini, E. S., Mar 1 2016, In: European Journal of Human Genetics. 24, 3, p. 463-466 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Apoptosis Inducing Factor 100%
  • Motor Neuron Disease 89%
  • Cowchock syndrome 84%
  • Mitochondrial encephalopathy 58%
  • Cytochrome-c Oxidase Deficiency 56%

• 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 journal › Article › peer-review

  • Sideroblastic Anemia 100%
  • Lactic Acidosis 80%
  • Syndromic 7 Microphthalmia 41%
  • Phenotype 37%
  • Mutation 35%

• 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 journal › Article › peer-review

  • Sideroblastic Anemia 100%
  • Lactic Acidosis 80%
  • Syndromic 7 Microphthalmia 41%
  • Phenotype 37%
  • Mutation 35%

• 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 journal › Article › peer-review

  • Riboflavin 100%
  • Succinic Acid 64%
  • Mitochondrial Complex II Deficiency 57%
  • sulofenur 50%
  • Mutation 44%

• 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 journal › Article › peer-review

  • Riboflavin 100%
  • Succinic Acid 64%
  • Mitochondrial Complex II Deficiency 57%
  • sulofenur 50%
  • Mutation 44%

• 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 journal › Article › peer-review

  • Oxidative Stress 100%
  • Spinal Muscular Atrophy 59%
  • Mutation 50%
  • Deafness 50%
  • Parkinsonian Disorders 49%

• 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, (E-pub ahead of print) In: Clinical Genetics.

  Research output: Contribution to journal › Article › peer-review

  • Oxidative Stress 100%
  • Spinal Muscular Atrophy 59%
  • Mutation 50%
  • Deafness 50%
  • Parkinsonian Disorders 49%

• 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 journal › Article › peer-review

  • Oxidative Stress 100%
  • Spinal Muscular Atrophy 59%
  • Mutation 50%
  • Deafness 50%
  • Parkinsonian Disorders 49%

• 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 journal › Article › peer-review

  • Leukoencephalopathies 100%
  • Mutation 42%
  • Electron Transport Complex III 26%
  • Magnetic Resonance Imaging 15%
  • Brain Diseases 8%

• 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 journal › Article › peer-review

  • Leukoencephalopathies 100%
  • Mutation 42%
  • Electron Transport Complex III 26%
  • Magnetic Resonance Imaging 15%
  • Brain Diseases 8%

• 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 journal › Article › peer-review

  • Phenotype 100%
  • Mutation 93%
  • Multiple Mitochondrial Dysfunctions Syndrome 89%
  • Glycine Decarboxylase Complex H-Protein 89%
  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) 66%

• Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

  Verrigni, D., Diodato, D., Di Nottia, M., Torraco, A., Bellacchio, E., Rizza, T., Tozzi, G., Verardo, M. G., Piemonte, F., Tasca, G., D'Amico, A., Bertini, E. & Carrozzo, R., Nov 28 2016, (E-pub ahead of print) In: Clinical Genetics.

  Research output: Contribution to journal › Article › peer-review

  • Hypertrophic Cardiomyopathy 100%
  • Electron Transport 96%
  • Lysine-tRNA Ligase 51%
  • Mutation 49%
  • Nonsyndromic Deafness 44%

• TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

  Sferra, A., Baillat, G., Rizza, T., Barresi, S., Flex, E., Tasca, G., D'Amico, A., Bellacchio, E., Ciolfi, A., Caputo, V., Cecchetti, S., Torella, A., Zanni, G., Diodato, D., Piermarini, E., Niceta, M., Coppola, A., Tedeschi, E., Martinelli, D., Dionisi-Vici, C. & 6 others, Nigro, V., Dallapiccola, B., Compagnucci, C., Tartaglia, M., Haase, G. & Bertini, E., Oct 6 2016, In: American Journal of Human Genetics. 99, 4, p. 974-983 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Spinal Muscular Atrophy 100%
  • Tubulin 82%
  • Microtubules 74%
  • Brain Diseases 73%
  • Polymerization 59%
• 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 journal › Article › peer-review

• Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

  Castiglioni, C., Verrigni, D., Okuma, C., Diaz, A., Alvarez, K., Rizza, T., Carrozzo, R., Bertini, E. & Miranda, M., Sep 1 2015, In: European Journal of Paediatric Neurology. 19, 5, p. 497-503 7 p., 1907.

  Research output: Contribution to journal › Article › peer-review

  • Dystonia 18 100%
  • Pyruvate Dehydrogenase Complex Deficiency Disease 87%
  • Thiamine 63%
  • Dystonia 40%
  • Deficiency Diseases 23%
• 2014

  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 journal › Article › peer-review

  • cytotoxic necrotizing factor type 1 100%
  • Toxin 54%
  • Adenosine Triphosphate 44%
  • Escherichia coli 40%
  • Mitochondria 35%

• 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 journal › Article › peer-review

  • Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency 100%
  • Mitochondrial Myopathies 68%
  • Riboflavin 58%
  • Muscles 27%
  • Phenotype 27%
• 2013

  Erratum: MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy (Brain (2013) 136 (872-881))

  Martinelli, D., Travaglini, L., Drouin, C. A., Ceballos-Picot, I., Rizza, T., Bertini, E., Carrozzo, R., Petrini, S., De Lonlay, P., El Hachem, M. & Hubert, L., 2013, In: Brain. 136, 10

  Research output: Contribution to journal › Article › peer-review

• MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy

  Martinelli, D., Travaglini, L., Drouin, C. A., Ceballos-Picot, I., Rizza, T., Bertini, E., Carrozzo, R., Petrini, S., De Lonlay, P., El Hachem, M., Hubert, L., Montpetit, A., Torre, G. & Dionisi-Vici, C., 2013, In: Brain. 136, 3, p. 872-881 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Zinc Acetate 100%
  • Copper 58%
  • Therapeutics 9%
  • Liver 8%
  • Adaptor Protein Complex 1 7%

• 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 journal › Article › peer-review

  • Electron Transport Complex III 100%
  • Psychiatry 52%
  • Mutation 39%
  • Genes 28%
  • Olivopontocerebellar Atrophies 28%

• Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: Definition of the clinical spectrum and molecular findings in five patients

  Cassandrini, D., Cilio, M. R., Bianchi, M., Doimo, M., Balestri, M., Tessa, A., Rizza, T., Sartori, G., Meschini, M. C., Nesti, C., Tozzi, G., Petruzzella, V., Piemonte, F., Bisceglia, L., Bruno, C., Dionisi-Vici, C., D'Amico, A., Fattori, F., Carrozzo, R., Salviati, L. & 2 others, Santorelli, F. M. & Bertini, E., Jan 2013, In: Journal of Inherited Metabolic Disease. 36, 1, p. 43-53 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Pontocerebellar Hypoplasia Type 6 100%
  • Mutation 25%
  • Neuroimaging 24%
  • Pontocerebellar Hypoplasia 16%
  • Infantile Epileptic-Dyskinetic Encephalopathy 15%

• Riboflavin transporter 3 involvement in infantile brown-vialetto-van laere disease: Two novel mutations

  Ciccolella, M., Corti, S., Catteruccia, M., Petrini, S., Tozzi, G., Rizza, T., Carrozzo, R., Nizzardo, M., Bordoni, A., Ronchi, D., D'Amico, A., Rizzo, C., Comi, G. P. & Bertini, E., Feb 2013, In: Journal of Medical Genetics. 50, 2, p. 104-107 4 p.

  Research output: Contribution to journal › Article › peer-review

  • human SLC52A3 protein 100%
  • Riboflavin 55%
  • human RFT3 protein 50%
  • Brown-Vialetto-Van Laere syndrome 43%
  • Mutation 24%
• 2012

  Deep sequencing unearths Nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants

  Petruzzella, V., Carrozzo, R., Calabrese, C., Dell'aglio, R., Trentadue, R., Piredda, R., Artuso, L., Rizza, T., Bianchi, M., Porcelli, A. M., Guerriero, S., Gasparre, G. & Attimonelli, M., Sep 2012, In: Human Molecular Genetics. 21, 17, p. 3753-3764 12 p., dds182.

  Research output: Contribution to journal › Article › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Mitochondrial DNA 71%
  • High-Throughput Nucleotide Sequencing 65%
  • Mutation 38%
  • Penetrance 19%

• Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer

  Putignani, L., Raffa, S., Pescosolido, R., Rizza, T., Del Chierico, F., Leone, L., Aimati, L., Signore, F., Carrozzo, R., Callea, F., Torrisi, M. R. & Grammatico, P., May 2012, In: Mitochondrion. 12, 3, p. 363-369 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Oxidative Phosphorylation 100%
  • Adenosine Triphosphate 92%
  • Breast Neoplasms 75%
  • Wounds and Injuries 57%
  • Mitochondria 48%

• 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 journal › Article › peer-review

  • Adenosine Triphosphate 100%
  • 3-Methylglutaconic Aciduria 59%
  • F1F0-ATP synthase 56%
  • oligomycin sensitivity-conferring protein 51%
  • Holoenzymes 41%
• 2011

  Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene

  El-Hafidi, M., Meschini, M. C., Rizza, T., Santorelli, F. M., Bertini, E., Carrozzo, R. & Vázquez-Memije, M. E., Dec 2011, In: Journal of Bioenergetics and Biomembranes. 43, 6, p. 683-690 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Mitochondrial Genes 100%
  • Cardiolipins 97%
  • Mitochondria 64%
  • Fibroblasts 58%
  • Mutation 44%

• FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion

  Zanni, G., Barresi, S., Travaglini, L., Bernardini, L., Rizza, T., Digilio, M. C., Mercuri, E., Cianfarani, S., Valeriani, M., Ferraris, A., Da Sacco, L., Novelli, A., Valente, E. M., Dallapiccola, B. & Bertini, E. S., Aug 2011, In: Neurogenetics. 12, 3, p. 241-245 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Monosomy 8p Chromosome 8 100%
  • Dandy-Walker Syndrome 83%
  • Down-Regulation 38%
  • Cerebellar Vermis 37%
  • Chromosome Deletion 35%

• Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

  Bianchi, M., Rizza, T., Verrigni, D., Martinelli, D., Tozzi, G., Torraco, A., Piemonte, F., Dionisi-Vici, C., Nobili, V., Francalanci, P., Boldrini, R., Callea, F., Santorelli, F. M., Bertini, E. & Carrozzo, R., Nov 18 2011, In: Biochemical and Biophysical Research Communications. 415, 2, p. 300-304 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Mitochondrial DNA 100%
  • Disorder 81%
  • Amount 40%
  • Enzyme Activity 39%
  • Mitochondrial cytopathy 26%

• 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 journal › Article › peer-review

  • Leukoencephalopathies 100%
  • Electron Transport 82%
  • Fibroblasts 55%
  • Neurospora crassa 53%
  • Insertional Mutagenesis 44%
• 2009

  Assaying ATP synthesis in cultured cells: A valuable tool for the diagnosis of patients with mitochondrial disorders

  Rizza, T., Vazquez-Memije, M. E., Meschini, M. C., Bianchi, M., Tozzi, G., Nesti, C., Piemonte, F., Bertini, E., Santorelli, F. M. & Carrozzo, R., May 22 2009, In: Biochemical and Biophysical Research Communications. 383, 1, p. 58-62 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Mitochondrial Diseases 100%
  • Oxidative Phosphorylation 90%
  • Mitochondrial Proton-Translocating ATPases 83%
  • Disorder 68%
  • Cultured Cells 67%

• Cellular and functional analysis of four mutations located in the mitochondrial atpase6gene

  Vazquez-Memije, M. E., Rizza, T., Meschini, M. C., Nesti, C., Santorelli, F. M. & Carrozzo, R., Apr 1 2009, In: Journal of Cellular Biochemistry. 106, 5, p. 878-886 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • oligomycin sensitivity-conferring protein 47%
  • Adenosine Triphosphate 46%
  • Protons 30%
  • Proton 19%

• Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases

  Papa, S., Petruzzella, V., Scacco, S., Sardanelli, A. M., Iuso, A., Panelli, D., Vitale, R., Trentadue, R., De Rasmo, D., Capitanio, N., Piccoli, C., Papa, F., Scivetti, M., Bertini, E., Rizza, T. & De Michele, G., May 2009, In: Biochimica et Biophysica Acta - Bioenergetics. 1787, 5, p. 502-517 16 p.

  Research output: Contribution to journal › Article › peer-review

  • Electron Transport 100%
  • Nervous System Diseases 85%
  • Disorder 77%
  • Mutation 76%
  • Energy Metabolism 54%

• Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

  Denora, P. S., Muglia, M., Casali, C., Truchetto, J., Silvestri, G., Messina, D., Boukrhis, A., Magariello, A., Modoni, A., Masciullo, M., Malandrini, A., Morelli, M., de Leva, M. F., Villanova, M., Giugni, E., Citrigno, L., Rizza, T., Federico, A., Pierallini, A., Quattrone, A. & 4 others, Filla, A., Brice, A., Stevanin, G. & Santorelli, F. M., Feb 15 2009, In: Journal of the Neurological Sciences. 277, 1-2, p. 22-25 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Paraplegia 100%
  • Corpus Callosum 96%
  • Mutation Rate 91%
  • White Matter 78%
  • Mutation 48%
• 2008

  Peroxisomal acyl-CoA-oxidase deficiency: Two new cases

  Carrozzo, R., Bellini, C., Lucioli, S., Deodato, F., Cassandrini, D., Cassanello, M., Caruso, U., Rizzo, C., Rizza, T., Napolitano, M. L., Wanders, R. J. A., Jakobs, C., Bruno, C., Santorelli, F. M., Dionisi-Vici, C. & Bonioli, E., Jul 1 2008, In: American Journal of Medical Genetics, Part A. 146, 13, p. 1676-1681 6 p.

  Research output: Contribution to journal › Article › peer-review

  • peroxisomal acyl-CoA oxidase 100%
  • Acyl-CoA Oxidase 33%
  • pristanic acid 20%
  • Mutation 18%
  • Phytanic Acid 18%
• 2007

  Infantile mitochondrial disorders

  Carrozzo, R., Piemonte, F., Tessa, A., Lucioli, S., Rizza, T., Meschini, M. C., Fattori, F. & Santorelli, F. M., Jun 2007, In: Bioscience Reports. 27, 1-3, p. 105-112 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Mitochondrial Diseases 100%
  • Disorder 68%
  • Inborn Genetic Diseases 37%
  • Medicine 29%
  • Phenotype 24%
• 2004

  A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli

  Carrozzo, R., Rizza, T., Lucioli, S., Pierini, R., Bertini, E. & Santorelli, F. M., May 2004, In: Acta Paediatrica, International Journal of Paediatrics, Supplement. 93, 445, p. 65-67 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Leigh Disease 100%
  • Protons 68%
  • Adenosine Triphosphatases 67%
  • Adenosine Triphosphate 51%
  • Escherichia coli 46%

• Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis

  Carrozzo, R., Rizza, T., Stringaro, A., Pierini, R., Mormone, E., Santorelli, F. M., Malorni, W. & Matarrese, P., Jul 2004, In: Journal of Neurochemistry. 90, 2, p. 490-501 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Maternally Inherited Leigh Syndrome 100%
  • Mitochondrial DNA 42%
  • Mutation 41%
  • Apoptotic 37%
  • Apoptosis 29%