Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 64

1.

Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System.

Fichi G, Naef V, Barca A, Longo G, Fronte B, Verri T, Santorelli FM, Marchese M, Petruzzella V.

Int J Mol Sci. 2019 May 15;20(10). pii: E2409. doi: 10.3390/ijms20102409. Review.

2.

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

Bianco A, Valletti A, Longo G, Bisceglia L, Montoya J, Emperador S, Guerriero S, Petruzzella V.

BMC Res Notes. 2018 Dec 20;11(1):911. doi: 10.1186/s13104-018-4025-y.

3.

Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.

Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, Tullo A, Zoccolella S, Guerriero S, Petruzzella V.

BMC Med Genet. 2018 Jul 27;19(1):129. doi: 10.1186/s12881-018-0644-3.

4.

Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.

Bianco A, Bisceglia L, Trerotoli P, Russo L, D'Agruma L, Guerriero S, Petruzzella V.

Acta Myol. 2017 Sep 1;36(3):163-177. eCollection 2017 Sep.

5.

Author Response: Increased mtDNA Copy Number Protects Against LHON.

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

Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):331. doi: 10.1167/iovs.17-22822. No abstract available.

PMID:
29346492
6.

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

Bianco A, Petruzzella V.

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

PMID:
28820924
7.

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

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

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

PMID:
28403426
8.

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

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

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

PMID:
28337894
9.

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

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

Brain. 2016 Jan;139(Pt 1):e1. doi: 10.1093/brain/awv216. Epub 2015 Jul 23. No abstract available.

PMID:
26209315
10.

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

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

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

PMID:
24603941
11.

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

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

Amyotroph Lateral Scler Frontotemporal Degener. 2013 May;14(4):261-6. doi: 10.3109/21678421.2012.735239. Epub 2012 Oct 24.

PMID:
23134511
12.

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

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

Eur J Neurol. 2012 Jul;19(7):e63-4. doi: 10.1111/j.1468-1331.2012.03720.x. No abstract available.

PMID:
22691093
13.

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 AM, Guerriero S, Gasparre G, Attimonelli M.

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

PMID:
22589247
14.

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

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.

J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8.

PMID:
22569581
15.

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

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

Biochim Biophys Acta. 2012 Jul;1817(7):1002-11. doi: 10.1016/j.bbabio.2012.03.019. Epub 2012 Mar 23.

16.

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

Petruzzella V, Sardanelli AM, Scacco S, Panelli D, Papa F, Trentadue R, Papa S.

Adv Exp Med Biol. 2012;942:371-84. doi: 10.1007/978-94-007-2869-1_17. Review.

PMID:
22399432
17.

The oxidative phosphorylation system in mammalian mitochondria.

Papa S, Martino PL, Capitanio G, Gaballo A, De Rasmo D, Signorile A, Petruzzella V.

Adv Exp Med Biol. 2012;942:3-37. doi: 10.1007/978-94-007-2869-1_1. Review.

PMID:
22399416
18.

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

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

Nucleic Acids Res. 2012 Jan;40(Database issue):D1150-9. doi: 10.1093/nar/gkr1086. Epub 2011 Dec 1.

19.

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

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

FEBS Lett. 2012 Mar 9;586(5):568-77. doi: 10.1016/j.febslet.2011.09.019. Epub 2011 Sep 19. Review.

20.

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

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

Middle East Afr J Ophthalmol. 2011 Jan;18(1):67-70. doi: 10.4103/0974-9233.75892.

21.

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

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

J Neurol. 2010 Dec;257(12):1999-2003. doi: 10.1007/s00415-010-5649-6. Epub 2010 Jul 15.

PMID:
20632027
22.

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

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.

Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13.

23.

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

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

Neuromuscul Disord. 2009 Jun;19(6):423-6. doi: 10.1016/j.nmd.2009.04.008. Epub 2009 May 9.

PMID:
19428252
24.

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

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.

Biochim Biophys Acta. 2009 May;1787(5):502-17. doi: 10.1016/j.bbabio.2008.12.018. Epub 2009 Jan 10. Review.

25.

The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.

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

Biochimie. 2008 Oct;90(10):1452-60. doi: 10.1016/j.biochi.2008.04.017. Epub 2008 May 27.

PMID:
18555024
26.

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

Aniello MS, Martino D, Petruzzella V, Eleopra R, Mancuso M, Dell'Aglio R, Cavallo M, Siciliano G, Defazio G.

Mov Disord. 2008 Jan;23(1):114-8.

PMID:
17960792
27.

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.

Petruzzella V, Tessa A, Torraco A, Fattori F, Dotti MT, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli FM.

Biochem Biophys Res Commun. 2007 Mar 30;355(1):181-7. Epub 2007 Feb 2.

PMID:
17292333
28.

Mutations in structural genes of complex I associated with neurological diseases.

Scacco S, Petruzzella V, Bertini E, Luso A, Papa F, Bellomo F, Signorile A, Torraco A, Papa S.

Ital J Biochem. 2006 Sep-Dec;55(3-4):254-62. Review.

PMID:
17274530
29.

Prefrontal dysfunction in schizophrenia controlling for COMT Val158Met genotype and working memory performance.

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.

Psychiatry Res. 2006 Oct 30;147(2-3):221-6. Epub 2006 Sep 6.

PMID:
16952445
30.

Prefrontal-hippocampal coupling during memory processing is modulated by COMT val158met genotype.

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.

Biol Psychiatry. 2006 Dec 1;60(11):1250-8. Epub 2006 Sep 1.

PMID:
16950222
31.

Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA.

Zoccolella S, Torraco A, Amati A, Lamberti P, Serlenga L, Papa S, Petruzzella V.

Funct Neurol. 2006 Jan-Mar;21(1):39-41.

PMID:
16735000
32.

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

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.

J Neurosci. 2006 Apr 12;26(15):3918-22.

33.

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.

Iuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, Minuto M, Ripoli M, Capitanio N, Zeviani M, Papa S.

J Biol Chem. 2006 Apr 14;281(15):10374-80. Epub 2006 Feb 13.

34.

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.

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

FEBS Lett. 2005 Jul 4;579(17):3770-6.

35.

Interaction of COMT (Val(108/158)Met) genotype and olanzapine treatment on prefrontal cortical function in patients with schizophrenia.

Bertolino A, Caforio G, Blasi G, De Candia M, Latorre V, Petruzzella V, Altamura M, Nappi G, Papa S, Callicott JH, Mattay VS, Bellomo A, Scarabino T, Weinberger DR, Nardini M.

Am J Psychiatry. 2004 Oct;161(10):1798-805.

PMID:
15465976
36.

Respiratory complex I in brain development and genetic disease.

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

Neurochem Res. 2004 Mar;29(3):547-60.

PMID:
15038602
37.

Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation.

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

Clin Genet. 2004 Jan;65(1):64-5. No abstract available.

PMID:
15032978
38.

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

Budde SM, van den Heuvel LP, Smeets RJ, Skladal D, Mayr JA, Boelen C, Petruzzella V, Papa S, Smeitink JA.

J Inherit Metab Dis. 2003;26(8):813-5.

PMID:
14765537
39.

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

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.

Neurology. 2003 Oct 14;61(7):1017-8. No abstract available.

PMID:
14557590
40.

Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues.

Picková A, Paul J, Petruzzella V, Houstek J.

FEBS Lett. 2003 Sep 11;551(1-3):42-6.

41.

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.

Scacco S, Petruzzella V, Budde S, Vergari R, Tamborra R, Panelli D, van den Heuvel LP, Smeitink JA, Papa S.

J Biol Chem. 2003 Nov 7;278(45):44161-7. Epub 2003 Aug 27.

42.

Complex I and the cAMP cascade in human physiopathology.

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

Biosci Rep. 2002 Feb;22(1):3-16. Review.

PMID:
12418547
43.

Mitochondrial disease mimicking polymyositis: a case report.

Corrado A, Cantatore FP, Serlenga L, Amati A, Petruzzella V, Lapadula G.

Clin Rheumatol. 2002 Sep;21(5):411-4.

PMID:
12223994
44.
45.

The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade.

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

J Bioenerg Biomembr. 2002 Feb;34(1):1-10. Review.

PMID:
11860175
46.

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.

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

Hum Mol Genet. 2001 Mar 1;10(5):529-35.

PMID:
11181577
47.
48.

Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis.

Cantatore P, Petruzzella V, Nicoletti C, Papadia F, Fracasso F, Rustin P, Gadaleta MN.

FEBS Lett. 1998 Aug 7;432(3):173-8.

49.

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M.

Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22.

PMID:
9571187
50.

Disorders of nuclear-mitochondrial intergenomic signalling.

Zeviani M, Petruzzella V, Carrozzo R.

J Bioenerg Biomembr. 1997 Apr;29(2):121-30. Review.

PMID:
9239538

Supplemental Content

Loading ...
Support Center