Pubblicazioni

LIST OF PEER REVIEWED PUBLICATIONS

  1. Bianco A, Palese LL, Guerriero S, Petruzzella V.

Author Response: Increased mtDNA Copy Number Protects Against LHON.

Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):331. doi: 10.1167/iovs.17-22822.

  1. Bianco A, Petruzzella V.

Author Response: Do High mtDNA Copy Numbers Truly Prevent LHON Manifestations?

Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4077. doi: 10.1167/iovs.17-22545. No abstract available.

  1. Bianco A, Bisceglia L, Russo L, Palese LL, D'Agruma L, Emperador S, Montoya J, Guerriero S, Petruzzella V.

High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON).

Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2193-2197. doi: 10.1167/iovs.16-20389.

  1. Galeandro V, Notarnicola A, Bianco A, Tafuri S, Russo L, Pesce V, Moretti B, Petruzzella V.

ACTN3/ACE genotypes and mitochondrial genome in professional soccer players’ performance.

J Biol Regul Homeost Agents. 2017 Jan-Mar;31(1):207-213.

  1. Romero I, Bisceglia L, D'Agruma L, Favia P, Ruiz-Pesini E, Guerriero S, Montoya J, Petruzzella V.

Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

Brain. 2016 Jan;139(Pt 1):e1. doi: 10.1093/brain/awv216. Epub 2015 Jul 23.

  1. Tommasi S, Favia P, Weigl S, Bianco A, Pilato B, Russo L, Paradiso A, Petruzzella V. 2014

Mitochondrial DNA variants and risk of familial breast cancer: an exploratory study.

Int J Oncol. May;44(5):1691-8. doi: 10.3892/ijo.2014.2324. Epub 2014 Mar 5.

  1. Artuso L, Romano A, Verri T, Domenichini A, Argenton F, Santorelli FM, Petruzzella V. 2012

Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).

Biochim Biophys Acta. Jul;1817(7):1002-11. doi: 10.1016/j.bbabio.2012.03.019. Epub Mar 23.

  1. Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. 2013

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

J Inherit Metab Dis. Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9.

  1. Artuso L, Zoccolella S, Favia P, Amati A, Capozzo R, Logroscino G, Serlenga L, Simone I, Gasparre G, Petruzzella V.  2013

Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease.

Amyotroph Lateral Scler Frontotemporal Degener. May;14(4):261-6. Epub 2012 Oct 24.

  1. Zoccolella S, Artuso L, Capozzo R, Amati A, Guerra F, Simone I, Logroscino G, Petruzzella V. 2012

Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA.

Eur J Neurol. Jul;19(7):e63-4. doi: 10.1111/j.1468-1331.2012.03720.x.

  1. Petruzzella V, Carrozzo R, Calabrese C, Dell'Aglio R, Trentadue R, Piredda R, Artuso L, Rizza T, Bianchi M, Porcelli AM, Guerriero S, Gasparre G, Attimonelli M. 2012

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

Hum Mol Genet. Sep 1;21(17):3753-64. doi: 10.1093/hmg/dds182. Epub 2012 May 15.

  1. Petruzzella V., Sardanelli A.M., Scacco S., Panelli D., Papa F., Trentadue R. And Papa S.

2012.

Dysfunction of mitochondrial respiratory chain complex I in neurological disorders: genetics and pathogenetic mechanisms.

In: SCATENA R. Advances in Mitochondrial Medicine. NEW YORK: Springer.

  1. Papa S., Martino PL., Capitanio G., Gaballo A., DeRasmo D., Signorile A., Petruzzella V. 2012.

The oxidative phosphorylation system in mammalian mitochondria.

In: SCATENA R. Advances in Mitochondrial Medicine. NEW YORK: Springer.

  1. Rubino F, Piredda R, Calabrese FM, Simone D, Lang M, Calabrese C, Petruzzella V, Tommaseo-Ponzetta M, Gasparre G, Attimonelli M. 2012

HmtDB, a genomic resource for mitochondrion-based human variability studies.. 

Nucleic Acids Res.;40:D1150-D1159.

  1. Papa S, DeRasmo D, Technikova-Dobrova Z, Panelli D, Signorile A, Scacco S, Petruzzella V, Papa F, Palmisano G, Gnoni A, Micelli L, Sardanelli AM. 2011.

Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases.

FEBS Lett. Sep 19.

  1. Guerriero S, Vetrugno M, Ciracì L, Artuso L, Dell'aglio R, Petruzzella V. 2011. 

Bilateral progressive visual loss in an epileptic, mentally retarded boy.

Middle East Afr J Ophthalmol. 18(1):67-70.

  1. Zoccolella S*, Petruzzella V*, Prascina F, Artuso L, Pacillo F, Dell'Aglio R, Avolio C, Delle Noci N, Attimonelli M, Specchio LM. 2010.

Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome.

J Neurol. Dec;257(12):1999-2003. Epub 2010 Jul 15.

  1. Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli Fm, Serlenga L, Zelante L, Bertini E, Petruzzella V. 2010.

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. European Journal of Human Genetics, 18:636-41.

  1. Negro R, Zoccolella S, Dell'aglio R, Amati A, Artuso L, Bisceglia L, Lavolpe V, Papa S, Serlenga L, Petruzzella V. 2009.

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.

Neuromuscular Disorders, 6;  423-426

  1. Papa S, Petruzzella V., Scacco S, Sardanelli Am, 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 2009.

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

Biochimica Biophysica Acta-Bioenergetics, Biochim Biophys Acta.;1787:502-17.

  1. Aniello Ms, Martino D, Petruzzella V., Eleopra R, Mancuso M, Dell'aglio R, Cavallo M, Siciliano G, Defazio G 2008.

Bilateral striatal necrosis, dystonia and multiple mitochondrial dna deletions: case study and effect of deep brain stimulation.

Movement Disorders, 1; 114-118

  1. Panelli D, Petruzzella V., Vitale R, De Rasmo D, Munnich A, Rötig A, Papa S 2008.

The regulation of ptc containing transcripts of the human ndufs4 gene of complex i of respiratory chain and the impact of pathological mutations.

Biochimie, 90; P. 1452-1460

  1. Petruzzella V., Tessa A, Torraco A, Fattori F, Dotti Mt, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli Fm. 2007.

The Ndufb11 gene is not a modifier in leber hereditary optic neuropathy.

Biochemical and Biophysical Research Communications, 355;  181-187

  1. Bertolino A, Blasi G, Latorre V, Rubino V, Rampino A, Sinibaldi L, Caforio G, Petruzzella V., Pizzuti A, Scarabino T, Nardini M, Weinberger Dr, Dallapiccola B. 2006.

Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.

The Journal of Neuroscience, 26; 3918-3922

  1. Bertolino A, Caforio G, Petruzzella V., Latorre V, Rubino V, Dimalta S, Torraco A, Blasi G, Quartesan R, Mattay Vs, Callicott Jh, Weinberger Dr, Scarabino T. 2006.

Prefrontal dysfunction in schizophrenia controlling for comt val158met genotype and working memory performance.

Psychiatry Research, 147; 221-226

  1. Bertolino A, Rubino V, Sambataro F, Blasi G, Latorre V, Fazio L, Caforio G, Petruzzella V., Kolachana B, Hariri A, Meyer-Lindenberg A, Nardini M, Weinberger Dr, Scarabino T. 2006.

Prefrontal-Hippocampal Coupling During Memory Processing Is Modulated BY Comt Val158met Genotype. Biological Psychiatry, 60; 1250-1258

  1. Petruzzella V., Panelli D, Torraco A, Stella A, Papa S. 2005.

Mutations in the NDUSF4 gene of mitochondrial complex I alter stability of the splice variants.

FEBS letters, vol. 379; P. 3770-3776

  1. Bertolino, G. Caforio, G. Blasi, M. De Candia, V. Latorre, Petruzzella V., Altamura, G. Nappi, S. Papa, J.H. Callicott, V.S. Mattay, A. Bellomo, T. Scarabino, D.R. Weinberger, M. Nardini. 2004.

Differential effect of comt val108/158 met genotype on enhancement of prefrontal cortical function and working memory in patients with schizophrenia treated with olanzapine.

The American Journal of Psychiatry,  161;  1-8,

  1. Papa, S., Petruzzella V., V., Scacco, S., Vergari, R., Panelli, D., Tamborra, R., Corsi, P., Picciariello, M., Lambo, R., Bertini E. And Santorelli, F.M. 2004.

Respiratory complex I in brain development and genetic disease.

Neurochemical research, vol. 29; P. 547-560, Issn: 0364-3190

  1. Petruzzella V., V., Zoccolella, S. Amati, A. Torraco, A., Lamberti, P., Carnicella, F., Serlenga, L., And Papa, S. 2004.

Cerebellar ataxia as atypical manifestation of the 3243a>g MELAS mutation.

Clinical genetics, vol. 65; p. 64-65, issn: 0009-9163

  1. Budde, S.M.S., Van Den Heuvel, L.P.W.J., Smeets R.J.P., Skladal, D., Konstantopoulou, V., Boelen, C., Petruzzella V., V., Papa, S., Smeitink, J.A.M. 2003.

Clinical heterogeneity in patients with mutations in the ndufs4 gene of mitochondrial complex I

Journal of inherited metabolic disease, vol. 26; p. 813-815, issn: 0141-8955

  1. 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. 2003.

Atypical Leigh syndrome associated with the d393n mutation in the mitochondrial nd5 subunit.

Neurology, vol. 61; p. 1017-8., issn: 0028-3878

  1. Pickova A, Paul J, Petruzzella V., Houstek J. 2003.

Differential expression of ATPaf1 and ATPaf2 genes encoding F(1)-ATPase assembly proteins in mouse tissues.

FEBS Letters, VOL. 551; P. 42-6., Issn: 0014-5793

  1. Scacco S, Petruzzella V., Budde S, Vergari R, Tamborra R, Panelli D, Van Den Heuvel Lp, Smeitink Ja, Papa S. 2003.

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, VOL. 278; P. 44161-7, Issn: 0021-9258

  1. Scacco, S., Petruzzella V., V., Budde, S., Vergari, R., Tamborra, R., Panelli, D., Van Den Heuvel, L.P. Smeitink, J., And Papa, S. 2003.

Genetic defect of the assembly of the respiratory complex i in fatal encephalopathy syndromes.

The Journal of Biological Chemistry, VOL. 278; P. 44161-44167, Issn: 0021-9258

  1. Corrado A, Cantatore Fp, Serlenga L, Amati A, Petruzzella V., Lapadula G. 2002. Mitochondrial disease mimicking polymyositis: a case report.

Clinical Rheumatology, VOL. 21; P. 411-4., Issn: 0770-3198

  1. Papa S, Scacco S, Sardanelli Am, Petruzzella V., Vergari R, Signorile A, Technikova-Dobrova Z. 2002.

Complex I and the cAMP cascade in human physiopathology.

Bioscience Reports, VOL. 22; P. 3-16, Issn: 0144-8463

  1. Petruzzella V., S. Papa. 2002.

Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the Ndufs4 gene.

Gene, VOL. 286; P. 149-154, Issn: 0378-1119

  1. Sardanelli A.M., Scacco S, Petruzzella V., Technikova- Dobrova Z., Vergari, Signorile A, Papa S. 2002. The Nadh- ubiquinone oxidoreductase (complex I) of mammalian respiratory chain and the cAMP cascade.

Journal of Bioenergetics and Biomembranes, VOL. 34; P. 1-10, Issn: 0145-479x

  1. Petruzzella V., Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa. 2001.

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, VOL. 10; P. 529-35., Issn: 0964-6906

  1. Cantatore P., Petruzzella V., Nicoletti C., Papadia F., Fracasso F., Rustin P., Gadaleta M.N. 1998.

Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin b12 coenzyme synthesis.

Febs Letters, VOL. 432; P. 173-178, Issn: 0014-5793

  1. Petruzzella V., Tiranti V., Fernandez Silva P., Ianna P, Carrozzo R., Zeviani. 1998. 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, VOL. 54; P. 494-504., Issn: 0888-7543

  1. Santorelli M.F, Bertini E, Petruzzella V., Dicapua M, Calvieri S, Gasparini, Zeviani M. 1998.

A novel insertion mutation (A1691) in the Cnl1 gene is associated with Infantile Neuronal Ceroid Lipofuscinosis in an italian patient.

Biochemical And Biophysical Research Communications, VOL. 245; P. 519-522, Issn: 0006-291x

  1. Zeviani M, Petruzzella V, Carrozzo R. 1997

Disorders of nuclear-mitochondrial intergenomic signalling.

J Bioenerg Biomembr. Apr;29(2):121-30.Review. PubMed PMID: 9239538.

  1. Petruzzella V, Fracasso F, Gadaleta MN, Cantatore P. 1995

Decrease of D-loop frequency in heart and cerebral hemispheres mitochondrial DNA of aged rat.

Mol Chem Neuropathol. Feb-Apr;24(2-3):193-202. PubMed PMID: 7632322.

  1. Gadaleta MN, Petruzzella V, Daddabbo L, Olivieri C, Fracasso F, Loguercio Polosa P, Cantatore P. 1994

Mitochondrial DNA transcription and translation in aged rat. Effect of acetyl-L-carnitine.

Ann N Y Acad Sci. Jun 30;717:150-60. PubMed PMID: 7518198.

  1. Petruzzella V, Moraes CT, Sano MC, Bonilla E, DiMauro S, Schon EA. 1994

Extremely  high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative

ragged-red fibers in patients harboring a point mutation at nt 3243.

Hum Mol Genet. Mar;3(3):449-54. PubMed PMID: 7912129.

  1. DiMauro S, Simonetti S, Chen X, Petruzzella V, Hirano M, Shanske S, Moraes

CT, Schon EA. 1993

Mitochondrial dysfunction as a mechanism of CNS injury.

Res Publ Assoc Res Nerv Ment Dis.;71:67-79. Review. PubMed PMID: 8417473.

  1. Petruzzella V, Fracasso F, Gadaleta MN, Cantatore P. Age-dependent structural

variations in rat brain mitochondrial DNA. Ann N Y Acad Sci. 1992 Dec

26;673:194-9. PubMed PMID: 1485717.

  1. Ruggiero FM, Cafagna F, Petruzzella V, Gadaleta MN, Quagliariello E. 1992

Lipid composition in synaptic and nonsynaptic mitochondria from rat brains and effect

of aging.

J Neurochem. Aug;59(2):487-91. PubMed PMID: 1629722.

  1. Moraes CT, Ricci E, Petruzzella V, Shanske S, DiMauro S, Schon EA, Bonilla E. 1992

Molecular analysis of the muscle pathology associated with mitochondrial DNA

deletions.

Nat Genet. Aug;1(5):359-67. PubMed PMID: 1284549.

  1. Petruzzella V, Chen X, Schon EA. 1992

Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease.

Biochem Biophys Res Commun. Jul 15;186(1):491-7. PubMed PMID: 1352971.

  1. Bonilla E, Sciacco M, Tanji K, Sparaco M, Petruzzella V, Moraes CT. 1992

New morphological approaches to the study of mitochondrial encephalomyopathies.

Brain Pathol. Apr;2(2):113-9. Review. PubMed PMID: 1341952.

  1. Petruzzella V, Baggetto LG, Penin F, Cafagna F, Ruggiero FM, Cantatore P, Gadaleta MN. 1992

In vivo effect of acetyl-L-carnitine on succinate oxidation, adenine

nucleotide pool and lipid composition of synaptic and non-synaptic mitochondria

from cerebral hemispheres of senescent rats.

Arch Gerontol Geriatr. Mar-Apr;14(2):131-44. PubMed PMID: 15374398.

  1. Fernandez-Silva P, Petruzzella V, Fracasso F, Gadaleta MN, Cantatore P. 1991

Reduced synthesis of mtRNA in isolated mitochondria of senescent rat brain.

Biochem Biophys Res Commun. Apr 30;176(2):645-53. PubMed PMID: 1709016.

  1. Gadaleta MN, Petruzzella V, Fracasso F, Fernandez-Silva P, Cantatore P. 1990

Acetyl-L-carnitine increases cytochrome oxidase subunit I mRNA content in

hypothyroid rat liver.

FEBS Lett. Dec 17;277(1-2):191-3. PubMed PMID:2176613.

  1. Gadaleta MN, Petruzzella V, Renis M, Fracasso F, Cantatore P. 1990

Reduced transcription of mitochondrial DNA in the senescent rat. Tissue dependence and

effect of L-carnitine.

Eur J Biochem. Feb 14;187(3):501-6. PubMed PMID:2154375.

  1. Cantatore P, Loguercio Polosa P, Mustich A, Petruzzella V, Gadaleta MN. 1988

Faithful and highly efficient RNA synthesis in isolated mitochondria from rat

liver.

  1. Curr Genet. Nov;14(5):477-82. PubMed PMID: 2852068.

 

pubblicato il 13/04/2018 — ultima modifica 13/04/2018

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