1985 …2020

Research output per year

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Research Output

2020

Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue

Turchi, R., Tortolici, F., Guidobaldi, G., Iacovelli, F., Falconi, M., Rufini, S., Faraonio, R., Casagrande, V., Federici, M., De Angelis, L., Carotti, S., Francesconi, M., Zingariello, M., Morini, S., Bernardini, R., Mattei, M., Rosa, P. L., Piemonte, F., Lettieri-Barbato, D. & Aquilano, K., Jan 1 2020, In : Cell Death and Disease. 11, 1, 51.

Research output: Contribution to journalArticle

Open Access
2019

How do cardiologists select patients for dual antiplatelet therapy continuation beyond 1 year after a myocardial infarction? Insights from the EYESHOT Post-MI Study

on behalf of the EYESHOT Post-MI Investigators, Nov 1 2019, In : Clinical Cardiology. 42, 11, p. 1113-1120 8 p.

Research output: Contribution to journalArticle

Open Access

Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells

La Rosa, P., Russo, M., D'Amico, J., Petrillo, S., Aquilano, K., Lettieri-Barbato, D., Turchi, R., Bertini, E. S. & Piemonte, F., 2019, In : Frontiers in Cellular Neuroscience. 13, p. 356

Research output: Contribution to journalArticle

Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich’s Ataxia Neural Stem Cells

La Rosa, P., Russo, M., D’Amico, J., Petrillo, S., Aquilano, K., Lettieri-Barbato, D., Turchi, R., Bertini, E. S. & Piemonte, F., Jul 31 2019, In : Frontiers in Cellular Neuroscience. 13, 356.

Research output: Contribution to journalArticle

Open Access

Systemic activation of Nrf2 pathway in Parkinson's disease

Petrillo, S., Schirinzi, T., Di Lazzaro, G., D'Amico, J., Colona, V. L., Bertini, E., Pierantozzi, M., Mari, L., Mercuri, N. B., Piemonte, F. & Pisani, A., Jan 1 2019, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

Systemic activation of Nrf2 pathway in Parkinson's disease

Petrillo, S., Schirinzi, T., Di Lazzaro, G., D'Amico, J., Colona, V. L., Bertini, E., Pierantozzi, M., Mari, L., Mercuri, N. B., Piemonte, F. & Pisani, A., Jan 1 2019, In : Movement Disorders.

Research output: Contribution to journalArticle

2018

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

Serum uric acid in Friedreich Ataxia

Schirinzi, T., Vasco, G., Zanni, G., Petrillo, S., Piemonte, F., Castelli, E. & Bertini, E. S., Apr 2018, In : Clinical Biochemistry. 54, p. 139-141 3 p.

Research output: Contribution to journalArticle

2017

Oxidative stress in Duchenne muscular dystrophy: Focus on the NRF2 redox pathway

Petrillo, S., Pelosi, L., Piemonte, F., Travaglini, L., Forcina, L., Catteruccia, M., Petrini, S., Verardo, M., D'Amico, A., Musaró, A. & Bertini, E., Jul 1 2017, In : Human Molecular Genetics. 26, 14, p. 2781-2790 10 p.

Research output: Contribution to journalArticle

Platelet count may impact on lysosomal acid lipase activity determination in dried blood spot

Vespasiani-Gentilucci, U., D'Amico, J., De Vincentis, A., Tozzi, G., Vorini, F., Gallo, P., Carotti, S., Valentini, F., Galati, G., dell'Unto, C., Piemonte, F. & Picardi, A., Aug 1 2017, In : Clinical Biochemistry. 50, 12, p. 726-728 3 p.

Research output: Contribution to journalArticle

2016

Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells

Rega, L. R., Polishchuk, E., Montefusco, S., Napolitano, G., Tozzi, G., Zhang, J., Bellomo, F., Taranta, A., Pastore, A., Polishchuk, R., Piemonte, F., Medina, D. L., Catz, S. D., Ballabio, A. & Emma, F., Apr 1 2016, In : Kidney International. 89, 4, p. 862-873 12 p.

Research output: Contribution to journalArticle

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

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

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Flex, E., Niceta, M., Cecchetti, S., Thiffault, I., Au, M. G., Capuano, A., Piermarini, E., Ivanova, A. A., Francis, J. W., Chillemi, G., Chandramouli, B., Carpentieri, G., Haaxma, C. A., Ciolfi, A., Pizzi, S., Douglas, G. V., Levine, K., Sferra, A., Dentici, M. L., Pfundt, R. R. & 11 others, Le Pichon, J. B., Farrow, E., Baas, F., Piemonte, F., Dallapiccola, B., Graham, J. M., Saunders, C. J., Bertini, E., Kahn, R. A., Koolen, D. A. & Tartaglia, M., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 962-973 12 p.

Research output: Contribution to journalArticle

Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs)

Compagnucci, C., Piermarini, E., Sferra, A., Borghi, R., Niceforo, A., Petrini, S., Piemonte, F. & Bertini, E., Dec 1 2016, In : Molecular and Cellular Neuroscience. 77, p. 113-124 12 p.

Research output: Contribution to journalArticle

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

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

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

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia

Piermarini, E., Cartelli, D., Pastore, A., Tozzi, G., Compagnucci, C., Giorda, E., D'Amico, J., Petrini, S., Bertini, E., Cappelletti, G. & Piemonte, F., Oct 1 2016, In : Human Molecular Genetics. 25, 19, p. 4288-4301 14 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

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

Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology

Vespasiani-Gentilucci, U., Gallo, P., Piemonte, F., Riva, E., Porcari, A., Vorini, F., Tozzi, G., Piccioni, L., Galati, G., De Vincentis, A., Carotti, S., Morini, S., D'Amico, J., Angeletti, S., Pedone, C. & Picardi, A., May 1 2016, In : PLoS One. 11, 5, e0156113.

Research output: Contribution to journalArticle

The cytoskeletal arrangements necessary to neurogenesis

Compagnucci, C., Piemonte, F., Sferra, A., Piermarini, E. & Bertini, E., Apr 12 2016, In : Oncotarget. 7, 15, p. 19414-19429 16 p.

Research output: Contribution to journalArticle

2015

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

Di Giacopo, R., Cianetti, L., Caputo, V., La Torraca, I., Piemonte, F., Ciolfi, A., Petrucci, S., Carta, C., Mariotti, P., Leuzzi, V., Valente, E. M., D'Amico, A., Bentivoglio, A., Bertini, E., Tartaglia, M. & Zampino, G., Sep 15 2015, In : Journal of the Neurological Sciences. 356, 1-2, p. 65-71 7 p., 13806.

Research output: Contribution to journalArticle

Reduced Lysosomal Acid Lipase Activity in Adult Patients With Non-alcoholic Fatty Liver Disease

Baratta, F., Pastori, D., Del Ben, M., Polimeni, L., Labbadia, G., Di Santo, S., Piemonte, F., Tozzi, G., Violi, F. & Angelico, F., Jul 1 2015, In : EBioMedicine. 2, 7, p. 750-754 5 p.

Research output: Contribution to journalArticle

Systemic redox biomarkers in neurodegenerative diseases

Pastore, A., Petrillo, S., Piermarini, E. & Piemonte, F., Jul 1 2015, In : Current Drug Metabolism. 16, 1, p. 46-70 25 p.

Research output: Contribution to journalArticle

2014

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

Nesti, C., Meschini, M. C., Meunier, B., Sacchini, M., Doccini, S., Romano, A., Petrillo, S., Pezzini, I., Seddiki, N., Rubegni, A., Piemonte, F., Alice Donati, M., Brasseur, G. & Santorelli, F. M., Dec 15 2014, In : Human Molecular Genetics. 24, 11, p. 3248-3256 9 p., ddv078.

Research output: Contribution to journalArticle

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

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

Glutathione metabolism in cobalamin deficiency type C (cblC)

Pastore, A., Martinelli, D., Piemonte, F., Tozzi, G., Boenzi, S., Di Giovamberardino, G., Petrillo, S., Bertini, E. & Dionisi-Vici, C., Jan 2014, In : Journal of Inherited Metabolic Disease. 37, 1, p. 125-129 5 p.

Research output: Contribution to journalArticle

Intracellular distribution of glutathionylated proteins in cultured dermal fibroblasts by immunofluorescence

Petrini, S., D'Oria, V. & Piemonte, F., Oct 16 2014, Advanced Protocols in Oxidative Stress III. Springer New York, p. 395-408 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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

2013

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-Related factor (Nrf2) in cultured motor neurons

D'Oria, V., Petrini, S., Travaglini, L., Priori, C., Piermarini, E., Petrillo, S., Carletti, B., Bertini, E. & Piemonte, F., 2013, In : International Journal of Molecular Sciences. 14, 4, p. 7853-7865 13 p.

Research output: Contribution to journalArticle

Glutathione: A redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies

Pastore, A., Petrillo, S., Tozzi, G., Carrozzo, R., Martinelli, D., Dionisi-Vici, C., Di Giovamberardino, G., Ceravolo, F., Klein, M. B., Miller, G., Enns, G. M., Bertini, E. & Piemonte, F., Jun 2013, In : Molecular Genetics and Metabolism. 109, 2, p. 208-214 7 p.

Research output: Contribution to journalArticle

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 journalArticle

Protein glutathionylation in cardiovascular diseases

Pastore, A. & Piemonte, F., Oct 17 2013, In : International Journal of Molecular Sciences. 14, 10, p. 20845-20876 32 p.

Research output: Contribution to journalArticle

2012

All glutathione forms are depleted in blood of obese and type 1 diabetic children

Pastore, A., Ciampalini, P., Tozzi, G., Pecorelli, L., Passarelli, C., Bertini, E. & Piemonte, F., May 2012, In : Pediatric Diabetes. 13, 3, p. 272-277 6 p.

Research output: Contribution to journalArticle

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study

Ciccolella, M., Catteruccia, M., Benedetti, S., Moroni, I., Uziel, G., Pantaleoni, C., Chiapparini, L., Bizzi, A., D'Amico, A., Fattori, F., Salsano, M. L., Pastore, A., Tozzi, G., Piemonte, F. & Bertini, E., Dec 2012, In : Neuromuscular Disorders. 22, 12, p. 1075-1082 8 p.

Research output: Contribution to journalArticle

Emodin prevents intrahepatic fat accumulation, inflammation and redox status imbalance during diet-induced hepatosteatosis in rats

Alisi, A., Pastore, A., Ceccarelli, S., Panera, N., Gnani, D., Bruscalupi, G., Massimi, M., Tozzi, G., Piemonte, F. & Nobili, V., Feb 2012, In : International Journal of Molecular Sciences. 13, 2, p. 2276-2289 14 p.

Research output: Contribution to journalArticle

EPI-743 reverses the progression of the pediatric mitochondrial disease-Genetically defined Leigh Syndrome

Martinelli, D., Catteruccia, M., Piemonte, F., Pastore, A., Tozzi, G., Dionisi-Vici, C., Pontrelli, G., Corsetti, T., Livadiotti, S., Kheifets, V., Hinman, A., Shrader, W. D., Thoolen, M., Klein, M. B., Bertini, E. & Miller, G., Nov 2012, In : Molecular Genetics and Metabolism. 107, 3, p. 383-388 6 p.

Research output: Contribution to journalArticle

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: A case with clinical, biochemical, and neuroradiological reversibility

Giribaldi, G., Doria-Lamba, L., Biancheri, R., Severino, M., Rossi, A., Santorelli, F. M., Schiaffino, C., Caruso, U., Piemonte, F. & Bruno, C., May 2012, In : Developmental Medicine and Child Neurology. 54, 5, p. 472-476 5 p.

Research output: Contribution to journalArticle

Pediatric reference intervals for muscle coenzyme Q10

Pastore, A., Di Giovamberardino, G., Petrillo, S., Boenzi, S., Bertini, E., Dionisi-Vici, C. & Piemonte, F., Dec 2012, In : Biomarkers. 17, 8, p. 764-766 3 p.

Research output: Contribution to journalArticle