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Vittoria Petruzzella

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Chemicals & Drugs

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Lucia Artuso; Rosa Capozzo; Paola Favia; Giuseppe Gasparre; Giancarlo Logroscino; Luigi Serlenga; Isabella Simone; Stefano Zoccolella; Angela Amati; Vittoria Petruzzella
Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease.
Denise Cassandrini; Maria Roberta Cilio; Adele D'Amico; Carlo Dionisi Vici; Mara Doimo; Fabiana Fattori; Maria Chiara Meschini; Claudia Nesti; Vittoria Petruzzella; Fiorella Piemonte; Teresa Rizza; Leonardo Salviati; Filippo M Santorelli; Geppo Sartori; Alessandra Tessa; Giulia Tozzi; Marzia Bianchi; Luigi Bisceglia; Claudio Bruno; Rosalba Carrozzo; Martina Balestri; Enrico Bertini
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Vittoria Petruzzella; Roberta Piredda; Anna Maria Porcelli; Teresa Rizza; Raffaella Trentadue; Marzia Bianchi; Claudia Calabrese; Rosalba Carrozzo; Rosa Dell'Aglio; Giuseppe Gasparre; Silvana Guerriero; Lucia Artuso; Marcella Attimonelli
Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.

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All Publications

2013: Lucia Artuso; Rosa Capozzo; Paola Favia; Giuseppe Gasparre; Giancarlo Logroscino; Luigi Serlenga; Isabella Simone; Stefano Zoccolella; Angela Amati; Vittoria Petruzzella
Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2013;14(4):261-6.
2013: Denise Cassandrini; Maria Roberta Cilio; Adele D'Amico; Carlo Dionisi Vici; Mara Doimo; Fabiana Fattori; Maria Chiara Meschini; Claudia Nesti; Vittoria Petruzzella; Fiorella Piemonte; Teresa Rizza; Leonardo Salviati; Filippo M Santorelli; Geppo Sartori; Alessandra Tessa; Giulia Tozzi; Marzia Bianchi; Luigi Bisceglia; Claudio Bruno; Rosalba Carrozzo; Martina Balestri; Enrico Bertini
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Journal of inherited metabolic disease 2013;36(1):43-53.
2012: Vittoria Petruzzella; Roberta Piredda; Anna Maria Porcelli; Teresa Rizza; Raffaella Trentadue; Marzia Bianchi; Claudia Calabrese; Rosalba Carrozzo; Rosa Dell'Aglio; Giuseppe Gasparre; Silvana Guerriero; Lucia Artuso; Marcella Attimonelli
Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.
Human molecular genetics 2012;21(17):3753-64.
2012: Stefano Zoccolella; Isabella Laura Simone; Angela Amati; L Artuso; R Capozzo; F Guerra; Giancarlo Logroscino; Vittoria Petruzzella
Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2012;19(7):e63-4.
2012: Lucia Artuso; Alice Domenichini; Alessandro Romano; Filippo Maria Santorelli; Tiziano Verri; Francesco Argenton; Vittoria Petruzzella
Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).
Biochimica et biophysica acta 2012;1817(7):1002-11.
2012: Sergio Papa; Vittoria Petruzzella; Domenico De Rasmo; Antonio Gnoni; Loris Micelli; Giuseppe Palmisano; Damiano Panelli; Francesco Papa; Salvatore Scacco; Anna Signorile; Zuzana Technikova-Dobrova; Anna Maria Sardanelli
Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases.
FEBS letters 2012;586(5):568-77.
2012: Vittoria Petruzzella; Anna Maria Sardanelli; Salvatore Scacco; Raffaella Trentadue; Damiano Panelli; Francesco Papa; Sergio Papa
Dysfunction of mitochondrial respiratory chain complex I in neurological disorders: genetics and pathogenetic mechanisms.
Advances in experimental medicine and biology 2012;942():371-84.
2012: Sergio Papa; Anna Signorile; Giuseppe Capitanio; Domenico De Rasmo; Antonio Gaballo; Pietro Luca Martino; Vittoria Petruzzella
The oxidative phosphorylation system in mammalian mitochondria.
Advances in experimental medicine and biology 2012;942():3-37.
2012: Francesco Rubino; Domenico Simone; Mila Tommaseo-Ponzetta; Claudia Calabrese; Francesco Maria Calabrese; Giuseppe Gasparre; Martin Lang; Vittoria Petruzzella; Roberta Piredda; Marcella Attimonelli
HmtDB, a genomic resource for mitochondrion-based human variability studies.
Nucleic acids research 2012;40(Database issue):D1150-9.
2011: Silvana Guerriero; Michele Vetrugno; Lorenza Ciracì; Lucia Artuso; Rosa Dell'aglio; Vittoria Petruzzella
Bilateral progressive visual loss in an epileptic, mentally retarded boy.
Middle East African journal of ophthalmology 2011;18(1):67-70.
2010: Stefano Zoccolella; Vittoria Petruzzella; Francesco Prascina; Lucia Artuso; Francesca Pacillo; Rosa Dell'Aglio; Carlo Avolio; Nicola Delle Noci; Marcella Attimonelli; Luigi Maria Specchio
Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome.
Journal of neurology 2010;257(12):1999-2003.
2010: Luigi Bisceglia; Stefano Zoccolella; Alessandra Torraco; Maria Rosaria Piemontese; Rosa Dell'Aglio; Angela Amati; Patrizia De Bonis; Lucia Artuso; Massimiliano Copetti; Filippo Maria Santorelli; Luigi Serlenga; Leopoldo Zelante; Enrico Bertini; Vittoria Petruzzella
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
European journal of human genetics : EJHG 2010;18(6):636-41.
2009: Roberto Negro; Stefano Zoccolella; Rosa Dell'aglio; Angela Amati; Lucia Artuso; Luigi Bisceglia; Vito Lavolpe; Sergio Papa; Luigi Serlenga; Vittoria Petruzzella
Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.
Neuromuscular disorders : NMD 2009;19(6):423-6.
2009: Sergio Papa; Vittoria Petruzzella; Salvatore Scacco; Anna Maria Sardanelli; Arcangela Iuso; Damiano Panelli; Rita Vitale; Raffaella Trentadue; Domenico De Rasmo; Nazzareno Capitanio; Claudia Piccoli; Francesco Papa; Michele Scivetti; Enrico Bertini; Teresa Rizza; Giuseppe De Michele
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
Biochimica et biophysica acta 2009;1787(5):502-17.
2008: Damiano Panelli; Vittoria Petruzzella; Rita Vitale; Domenico De Rasmo; Arnold Munnich; Agnès Rötig; Sergio Papa
The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.
Biochimie 2008;90(10):1452-60.
2008: Maria Stella Aniello; Davide Martino; Vittoria Petruzzella; Roberto Eleopra; Michelangelo Mancuso; Rosa Dell'Aglio; Michele Cavallo; Gabriele Siciliano; Giovanni Defazio
Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: case study and effect of deep brain stimulation.
Movement disorders : official journal of the Movement Disorder Society 2008;23(1):114-8.
2007: Vittoria Petruzzella; Alessandra Tessa; Alessandra Torraco; Fabiana Fattori; Maria Teresa Dotti; Claudio Bruno; Elena Cardaioli; Sergio Papa; Antonio Federico; Filippo M Santorelli
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
Biochemical and biophysical research communications 2007;355(1):181-7.
2006: Alessandro Bertolino; Valeria Rubino; Fabio Sambataro; Giuseppe Blasi; Valeria Latorre; Leonardo Fazio; Grazia Caforio; Vittoria Petruzzella; Bhaskar S Kolachana; Ahmad R Hariri; Andreas Meyer-Lindenberg; Marcello Nardini; Daniel R Weinberger; Tommaso Scarabino
Prefrontal-hippocampal coupling during memory processing is modulated by COMT val158met genotype.
Biological psychiatry 2006;60(11):1250-8.
2006: Alessandro Bertolino; Grazia Caforio; Vittoria Petruzzella; Valeria Latorre; Valeria Rubino; Savino Dimalta; Alessandra Torraco; Giuseppe Blasi; Roberto Quartesan; Venkata S Mattay; Joseph Callicott; Daniel R Weinberger; Tommaso Scarabino
Prefrontal dysfunction in schizophrenia controlling for COMT Val158Met genotype and working memory performance.
Psychiatry research 2006;147(2-3):221-6.
2006: Salvatore Scacco; Vittoria Petruzzella; Enrico Bertini; Arcangela Luso; Francesco Papa; Francesco Bellomo; Anna Signorile; Alessandra Torraco; Sergio Papa
Mutations in structural genes of complex I associated with neurological diseases.
The Italian journal of biochemistry 2006;55(3-4):254-62.
2006: Arcangela Iuso; Salvatore Scacco; Claudia Piccoli; Francesco Bellomo; Vittoria Petruzzella; Raffaella Trentadue; Michele Minuto; Maria Ripoli; Nazzareno Capitanio; Massimo Zeviani; Sergio Papa
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.
The Journal of biological chemistry 2006;281(15):10374-80.
2006: Alessandro Bertolino; Giuseppe Blasi; Valeria Latorre; Valeria Rubino; Antonio Rampino; Lorenzo Sinibaldi; Grazia Caforio; Vittoria Petruzzella; Antonio Pizzuti; Tommaso Scarabino; Marcello Nardini; Daniel R Weinberger; Bruno Dallapiccola
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(15):3918-22.
2006: Stefano Zoccolella; Alessandra Torraco; Angela Amati; Paolo Lamberti; Luigi Serlenga; Sergio Papa; Vittoria Petruzzella
Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA.
Functional neurology 2006;21(1):39-41.
2005: Vittoria Petruzzella; Damiano Panelli; Alessandra Torraco; Alessandro Stella; Sergio Papa
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.
FEBS letters 2005;579(17):3770-6.
2004: Alessandro Bertolino; Grazia Caforio; Giuseppe Blasi; Mariapia De Candia; Valeria Latorre; Vittoria Petruzzella; Mario Altamura; Gaetano Nappi; Sergio Papa; Joseph Callicott; Venkata S Mattay; Antonello Bellomo; Tommaso Scarabino; Daniel R Weinberger; Marcello Nardini
Interaction of COMT (Val(108/158)Met) genotype and olanzapine treatment on prefrontal cortical function in patients with schizophrenia.
The American journal of psychiatry 2004;161(10):1798-805.
2004: Sergio Papa; Vittoria Petruzzella; Salvatore Scacco; Rosaria Vergari; Damiano Panelli; Rosanna Tamborra; Patrizia Corsi; Margherita Picciariello; Rossana Lambo; Enrico Bertini; Filippo M Santorelli
Respiratory complex I in brain development and genetic disease.
Neurochemical research 2004;29(3):547-60.
2004: Vittoria Petruzzella; Stefano Zoccolella; Angela Amati; Alessandra Torraco; Paolo Lamberti; F Carnicella; Luigi Serlenga; Sergio Papa
Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation.
Clinical genetics 2004;65(1):64-5.
2003: Salvatore Scacco; Vittoria Petruzzella; S M S Budde; Rosaria Vergari; Rosanna Tamborra; Damiano Panelli; Lambert P van den Heuvel; Jan A M Smeitink; Sergio Papa
Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.
The Journal of biological chemistry 2003;278(45):44161-7.
2003: Vittoria Petruzzella; G Di Giacinto; Salvatore Scacco; Fiorella Piemonte; Alessandra Torraco; Rosalba Carrozzo; Rosaria Vergari; Carlo Dionisi Vici; Daniela Longo; Alessandra Tessa; Sergio Papa; Enrico Bertini
Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.
Neurology 2003;61(7):1017-8.
2003: Andrea Picková; Jan Paul; Vittoria Petruzzella; Josef Houstek
Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues.
FEBS letters 2003;551(1-3):42-6.
2002: Addolorata Corrado; Francesco Paolo Cantatore; Luigi Serlenga; Angela Amati; Vittoria Petruzzella; Giovanni Lapadula
Mitochondrial disease mimicking polymyositis: a case report.
Clinical rheumatology 2002;21(5):411-4.
2002: Vittoria Petruzzella; Sergio Papa
Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.
Gene 2002;286(1):149-54.
2002: Sergio Papa; Salvatore Scacco; Anna Maria Sardanelli; Vittoria Petruzzella; Rosaria Vergari; Anna Signorile; Zuzana Technikova-Dobrova
Complex I and the cAMP cascade in human physiopathology.
Bioscience reports 2002;22(1):3-16.
2002: Sergio Papa; Anna Maria Sardanelli; Salvatore Scacco; Vittoria Petruzzella; Zuzana Technikova-Dobrova; Rosaria Vergari; Anna Signorile
The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade.
Journal of bioenergetics and biomembranes 2002;34(1):1-10.
2001: Vittoria Petruzzella; Rosaria Vergari; I Puzziferri; Domenico Boffoli; Eleonora Lamantea; Massimo Zeviani; Sergio Papa
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
Human molecular genetics 2001;10(5):529-35.
1998: Vittoria Petruzzella; Valeria Tiranti; P Fernandez; P Ianna; Rosalba Carrozzo; Massimo Zeviani
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
Genomics 1998;54(3):494-504.
1998: Palmiro Cantatore; Vittoria Petruzzella; C Nicoletti; F Papadia; Flavio Fracasso; P Rustin; Maria Nicola Gadaleta
Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis.
FEBS letters 1998;432(3):173-8.
1997: Massimo Zeviani; Vittoria Petruzzella; Rosalba Carrozzo
Disorders of nuclear-mitochondrial intergenomic signalling.
Journal of bioenergetics and biomembranes 1997;29(2):121-30.