PubMed

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity.

Ghelli A, Porcelli AM, Zanna C, Vidoni S, Mattioli S, Barbieri A, Iommarini L, Pala M, Achilli A, Torroni A, Rugolo M, Carelli V.

PLoS One. 2009 Nov 19;4(11):e7922.PMID: 19936068 [PubMed - as supplied by publisher]

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.

Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA.

Biochim Biophys Acta. 2009 May;1787(5):518-28. Epub 2009 Mar 5. Review.PMID: 19268652 [PubMed - indexed for MEDLINE]Related articles

Inhibition of mitochondrial function induces an integrated stress response in oligodendroglia.

Silva JM, Wong A, Carelli V, Cortopassi GA.

Neurobiol Dis. 2009 May;34(2):357-65. Epub 2009 Feb 20.PMID: 19233273 [PubMed - indexed for MEDLINE]Related articles

Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON).

Guy J, Shaw G, Ross-Cisneros FN, Quiros P, Salomao SR, Berezovsky A, Carelli V, Feuer WJ, Sadun AA.

Mol Vis. 2008;14:2443-50. Epub 2008 Dec 22.PMID: 19104679 [PubMed - indexed for MEDLINE]Related articlesFree article

Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.

Ramos Cdo V, Bellusci C, Savini G, Carbonelli M, Berezovsky A, Tamaki C, Cinoto R, Sacai PY, Moraes-Filho MN, Miura HM, Valentino ML, Iommarini L, De Negri AM, Sadun F, Cortelli P, Montagna P, Salomao SR, Sadun AA, Carelli V, Barboni P.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1666-74. Epub 2008 Dec 20.PMID: 19098324 [PubMed - indexed for MEDLINE]Related articles

An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.

Gasparre G, Iommarini L, Porcelli AM, Lang M, Ferri GG, Kurelac I, Zuntini R, Mariani E, Pennisi LF, Pasquini E, Pasquinelli G, Ghelli A, Bonora E, Ceccarelli C, Rugolo M, Salfi N, Romeo G, Carelli V.

Hum Mutat. 2009 Mar;30(3):391-6.PMID: 19086058 [PubMed - indexed for MEDLINE]Related articles

Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels.

Porcelli AM, Angelin A, Ghelli A, Mariani E, Martinuzzi A, Carelli V, Petronilli V, Bernardi P, Rugolo M.

J Biol Chem. 2009 Jan 23;284(4):2045-52. Epub 2008 Dec 1.PMID: 19047048 [PubMed - indexed for MEDLINE]Related articles

Visual system involvement in patients with Friedreich's ataxia.

Fortuna F, Barboni P, Liguori R, Valentino ML, Savini G, Gellera C, Mariotti C, Rizzo G, Tonon C, Manners D, Lodi R, Sadun AA, Carelli V.

Brain. 2009 Jan;132(Pt 1):116-23. Epub 2008 Oct 18.PMID: 18931386 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C.

Hum Mol Genet. 2008 Dec 15;17(24):4001-11. Epub 2008 Sep 19.PMID: 18806273 [PubMed - indexed for MEDLINE]Related articles

Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.

Giordano C, Sebastiani M, De Giorgio R, Travaglini C, Tancredi A, Valentino ML, Bellan M, Cossarizza A, Hirano M, d'Amati G, Carelli V.

Am J Pathol. 2008 Oct;173(4):1120-8. Epub 2008 Sep 11.PMID: 18787099 [PubMed - indexed for MEDLINE]Related articlesFree article

Antioxidants partially restore glutamate transport defect in leber hereditary optic neuropathy cybrids.

Sala G, Trombin F, Beretta S, Tremolizzo L, Presutto P, Montopoli M, Fantin M, Martinuzzi A, Carelli V, Ferrarese C.

J Neurosci Res. 2008 Nov 15;86(15):3331-7.PMID: 18615737 [PubMed - indexed for MEDLINE]Related articles

Psychophysical analysis of contrast processing segregated into magnocellular and parvocellular systems in asymptomatic carriers of 11778 Leber's hereditary optic neuropathy.

Gualtieri M, Bandeira M, Hamer RD, Costa MF, Oliveira AG, Moura AL, Sadun F, De Negri AM, Berezovsky A, Salomão SR, Carelli V, Sadun AA, Ventura DF.

Vis Neurosci. 2008 May-Jun;25(3):469-74. Erratum in: Vis Neurosci. 2008 Sep-Dec;25(5-6):711. PMID: 18598420 [PubMed - indexed for MEDLINE]Related articles

Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.

Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R Jr, Braun TA, Sheffield VC, Sadun AA, Stone EM.

Ophthalmic Genet. 2008 Mar;29(1):17-24.PMID: 18363168 [PubMed - indexed for MEDLINE]Related articles

Myelin, mitochondria, and autoimmunity: what's the connection?

Carelli V, Bellan M.

Neurology. 2008 Mar 25;70(13 Pt 2):1075-6. No abstract available. PMID: 18362271 [PubMed - indexed for MEDLINE]Related articles

Choline pivaloyl ester enhances brain expression of both nerve growth factor and high-affinity receptor TrkA, and reverses memory and cognitive deficits, in rats with excitotoxic lesion of nucleus basalis magnocellularis.

Rispoli V, Marra R, Costa N, Rotiroti D, Tirassa P, Scipione L, De Vita D, Liberatore F, Carelli V.

Behav Brain Res. 2008 Jun 26;190(1):22-32. Epub 2008 Feb 8.PMID: 18355933 [PubMed - indexed for MEDLINE]Related articles

Retinal nerve fiber layer thickness in nonarteritic anterior ischemic optic neuropathy: OCT characterization of the acute and resolving phases.

Bellusci C, Savini G, Carbonelli M, Carelli V, Sadun AA, Barboni P.

Graefes Arch Clin Exp Ophthalmol. 2008 May;246(5):641-7. Epub 2008 Feb 28.PMID: 18305953 [PubMed - indexed for MEDLINE]Related articles

Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids.

Ghelli A, Porcelli AM, Zanna C, Martinuzzi A, Carelli V, Rugolo M.

Invest Ophthalmol Vis Sci. 2008 Feb;49(2):671-6.PMID: 18235013 [PubMed - indexed for MEDLINE]Related articlesFree article

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.

Zanna C, Ghelli A, Porcelli AM, Karbowski M, Youle RJ, Schimpf S, Wissinger B, Pinti M, Cossarizza A, Vidoni S, Valentino ML, Rugolo M, Carelli V.

Brain. 2008 Feb;131(Pt 2):352-67.PMID: 18222991 [PubMed - indexed for MEDLINE]Related articlesFree article

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V.

Neurology. 2008 Mar 4;70(10):762-70. Epub 2008 Jan 23.PMID: 18216301 [PubMed - indexed for MEDLINE]Related articles

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF.

Mol Vis. 2007 Dec 21;13:2339-43.PMID: 18199976 [PubMed - indexed for MEDLINE]Related articlesFree article

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V.

Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24.PMID: 18158317 [PubMed - indexed for MEDLINE]Related articlesFree article

Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis.

D'Aguanno S, Barassi A, Lupisella S, d'eril GM, Del Boccio P, Pieragostino D, Pallotti F, Carelli V, Valentino ML, Liguori R, Avoni P, Bernardini S, Gambi D, Urbani A, Federici G.

J Neuroimmunol. 2008 Jan;193(1-2):156-60. Epub 2007 Dec 3.PMID: 18061280 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial disorders.

Zeviani M, Carelli V.

Curr Opin Neurol. 2007 Oct;20(5):564-71. Review.PMID: 17885446 [PubMed - indexed for MEDLINE]Related articles

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Man PY, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF.

Am J Hum Genet. 2007 Aug;81(2):228-33. Epub 2007 Jun 4.PMID: 17668373 [PubMed - indexed for MEDLINE]Related articlesFree article

Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach.

Genasetti A, Valentino ML, Carelli V, Vigetti D, Viola M, Karousou EG, Melzi d'Eril GV, De Luca G, Passi A, Pallotti F.

J Mol Diagn. 2007 Sep;9(4):538-45. Epub 2007 Jul 25.PMID: 17652639 [PubMed - indexed for MEDLINE]Related articlesFree article

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Valentino ML, Martí R, Tadesse S, López LC, Manes JL, Lyzak J, Hahn A, Carelli V, Hirano M.

FEBS Lett. 2007 Jul 24;581(18):3410-4. Epub 2007 Jun 27.PMID: 17612528 [PubMed - indexed for MEDLINE]Related articlesFree article

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

Baracca A, Sgarbi G, Mattiazzi M, Casalena G, Pagnotta E, Valentino ML, Moggio M, Lenaz G, Carelli V, Solaini G.

Biochim Biophys Acta. 2007 Jul;1767(7):913-9. Epub 2007 May 18.PMID: 17568559 [PubMed - indexed for MEDLINE]Related articles

Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors.

Gasparre G, Porcelli AM, Bonora E, Pennisi LF, Toller M, Iommarini L, Ghelli A, Moretti M, Betts CM, Martinelli GN, Ceroni AR, Curcio F, Carelli V, Rugolo M, Tallini G, Romeo G.

Proc Natl Acad Sci U S A. 2007 May 22;104(21):9001-6. Epub 2007 May 15.PMID: 17517629 [PubMed - indexed for MEDLINE]Related articlesFree article

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

Carelli V, La Morgia C, Iommarini L, Carroccia R, Mattiazzi M, Sangiorgi S, Farne' S, Maresca A, Foscarini B, Lanzi L, Amadori M, Bellan M, Valentino ML.

Biosci Rep. 2007 Jun;27(1-3):173-84. Review.PMID: 17479363 [PubMed - indexed for MEDLINE]Related articles

Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study.

Sadun AA, Salomao SR, Berezovsky A, Sadun F, Denegri AM, Quiros PA, Chicani F, Ventura D, Barboni P, Sherman J, Sutter E, Belfort R Jr, Carelli V.

Trans Am Ophthalmol Soc. 2006;104:51-61.PMID: 17471325 [PubMed - indexed for MEDLINE]Related articlesFree article

Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy.

Ventura DF, Gualtieri M, Oliveira AG, Costa MF, Quiros P, Sadun F, de Negri AM, Salomão SR, Berezovsky A, Sherman J, Sadun AA, Carelli V.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2362-70.PMID: 17460303 [PubMed - indexed for MEDLINE]Related articlesFree article

Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?

Carelli V, Franceschini F, Venturi S, Barboni P, Savini G, Barbieri G, Pirro E, La Morgia C, Valentino ML, Zanardi F, Violante FS, Mattioli S.

Environ Health Perspect. 2007 Jan;115(1):113-5.PMID: 17366829 [PubMed - indexed for MEDLINE]Related articlesFree article

Leber hereditary optic neuropathy possibly triggered by exposure to tire fire.

Sanchez RN, Smith AJ, Carelli V, Sadun AA, Keltner JL.

J Neuroophthalmol. 2006 Dec;26(4):268-72.PMID: 17204920 [PubMed - indexed for MEDLINE]Related articles

Leber's hereditary optic neuropathy with childhood onset.

Barboni P, Savini G, Valentino ML, La Morgia C, Bellusci C, De Negri AM, Sadun F, Carta A, Carbonelli M, Sadun AA, Carelli V.

Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5303-9.PMID: 17122117 [PubMed - indexed for MEDLINE]Related articlesFree article

Optic nerve structure in healthy subjects.

Savini G, Zanini M, Carelli V, Sadun AA, Ross-Cisneros FN, Barboni P.

Arch Ophthalmol. 2006 Oct;124(10):1507; author reply 1508-9. No abstract available. Erratum in: Arch Ophthalmol. 2006 Dec;124(12):1700. Zannini, Maurizio [corrected to Zanini, Maurizio]. PMID: 17030731 [PubMed - indexed for MEDLINE]Related articles

Detection and quantification of retinal nerve fiber layer thickness in optic disc edema using stratus OCT.

Savini G, Bellusci C, Carbonelli M, Zanini M, Carelli V, Sadun AA, Barboni P.

Arch Ophthalmol. 2006 Aug;124(8):1111-7.PMID: 16908813 [PubMed - indexed for MEDLINE]Related articlesFree article

Choline pivaloyl ester strengthened the benefit effects of Tacrine and Galantamine on electroencephalographic and cognitive performances in nucleus basalis magnocellularis-lesioned and aged rats.

Rispoli V, Marra R, Costa N, Scipione L, Rotiroti D, De Vita D, Liberatore F, Carelli V.

Pharmacol Biochem Behav. 2006 Jul;84(3):453-67. Epub 2006 Jul 21.PMID: 16859739 [PubMed - indexed for MEDLINE]Related articles

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.

Valentino ML, Barboni P, Rengo C, Achilli A, Torroni A, Lodi R, Tonon C, Barbiroli B, Fortuna F, Montagna P, Baruzzi A, Carelli V.

J Med Genet. 2006 Jul;43(7):e38.PMID: 16816025 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcripts.

Cortopassi G, Danielson S, Alemi M, Zhan SS, Tong W, Carelli V, Martinuzzi A, Marzuki S, Majamaa K, Wong A.

Mitochondrion. 2006 Aug;6(4):161-75. Epub 2006 May 24.PMID: 16815102 [PubMed - indexed for MEDLINE]Related articles

The role of mitochondria in health, ageing, and diseases affecting vision.

Sadun AA, Carelli V.

Br J Ophthalmol. 2006 Jul;90(7):809-10. No abstract available. PMID: 16782943 [PubMed - indexed for MEDLINE]Related articlesFree article

Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III.

Bonora E, Porcelli AM, Gasparre G, Biondi A, Ghelli A, Carelli V, Baracca A, Tallini G, Martinuzzi A, Lenaz G, Rugolo M, Romeo G.

Cancer Res. 2006 Jun 15;66(12):6087-96.PMID: 16778181 [PubMed - indexed for MEDLINE]Related articlesFree article

Pathogenesis of retinal ganglion cell death in Leber hereditary optic neuropathy (LHON): possible involvement of mitochondria, light and glutamate.

Beretta S, Ferrarese C, Wood JP, Osborne NN, Carelli V.

Mitochondrion. 2006 Apr;6(2):102-3. Epub 2006 Apr 3. No abstract available. PMID: 16581312 [PubMed - indexed for MEDLINE]Related articles

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A.

Am J Hum Genet. 2006 Apr;78(4):564-74. Epub 2006 Jan 27.PMID: 16532388 [PubMed - indexed for MEDLINE]Related articlesFree article

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.

Giordano C, Sebastiani M, Plazzi G, Travaglini C, Sale P, Pinti M, Tancredi A, Liguori R, Montagna P, Bellan M, Valentino ML, Cossarizza A, Hirano M, d'Amati G, Carelli V.

Gastroenterology. 2006 Mar;130(3):893-901.PMID: 16530527 [PubMed - indexed for MEDLINE]Related articles

Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.

Quiros PA, Torres RJ, Salomao S, Berezovsky A, Carelli V, Sherman J, Sadun F, De Negri A, Belfort R, Sadun AA.

Br J Ophthalmol. 2006 Feb;90(2):150-3.PMID: 16424523 [PubMed - indexed for MEDLINE]Related articlesFree article

Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.

Sgarbi G, Baracca A, Lenaz G, Valentino LM, Carelli V, Solaini G.

Biochem J. 2006 May 1;395(3):493-500.PMID: 16402916 [PubMed - indexed for MEDLINE]Related articlesFree article

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage.

Perier C, Tieu K, Guégan C, Caspersen C, Jackson-Lewis V, Carelli V, Martinuzzi A, Hirano M, Przedborski S, Vila M.

Proc Natl Acad Sci U S A. 2005 Dec 27;102(52):19126-31. Epub 2005 Dec 19.PMID: 16365298 [PubMed - indexed for MEDLINE]Related articlesFree article

Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy.

Ventura DF, Quiros P, Carelli V, Salomão SR, Gualtieri M, Oliveira AG, Costa MF, Berezovsky A, Sadun F, de Negri AM, Sadun AA.

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4809-14.PMID: 16303983 [PubMed - indexed for MEDLINE]Related articlesFree article

Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G.

Zanna C, Ghelli A, Porcelli AM, Martinuzzi A, Carelli V, Rugolo M.

Apoptosis. 2005 Oct;10(5):997-1007.PMID: 16151635 [PubMed - indexed for MEDLINE]Related articles

Relative post-mortem sparing of afferent pupil fibers in a patient with 3460 Leber's hereditary optic neuropathy.

Bose S, Dhillon N, Ross-Cisneros FN, Carelli V.

Graefes Arch Clin Exp Ophthalmol. 2005 Nov;243(11):1175-9. Epub 2005 Jul 8.PMID: 16003516 [PubMed - indexed for MEDLINE]Related articles