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Items: 1 to 50 of 421

1.

Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV.

Protasoni M, Pérez-Pérez R, Lobo-Jarne T, Harbour ME, Ding S, Peñas A, Diaz F, Moraes CT, Fearnley IM, Zeviani M, Ugalde C, Fernández-Vizarra E.

EMBO J. 2020 Jan 8:e102817. doi: 10.15252/embj.2019102817. [Epub ahead of print]

2.

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

Protasoni M, Bruno C, Donati MA, Mohamoud K, Severino M, Allegri A, Robinson AJ, Reyes A, Zeviani M, Garone C.

Mol Genet Metab. 2020 Jan;129(1):26-34. doi: 10.1016/j.ymgme.2019.11.003. Epub 2019 Nov 21.

PMID:
31787496
3.

Breathe: Your Mitochondria Will Do the Rest… If They Are Healthy!

Viscomi C, Zeviani M.

Cell Metab. 2019 Oct 1;30(4):628-629. doi: 10.1016/j.cmet.2019.09.004.

PMID:
31577932
4.

Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster.

Brischigliaro M, Corrà S, Tregnago C, Fernandez-Vizarra E, Zeviani M, Costa R, De Pittà C.

Front Physiol. 2019 Sep 6;10:1143. doi: 10.3389/fphys.2019.01143. eCollection 2019.

5.

Impaired Mitochondrial ATP Production Downregulates Wnt Signaling via ER Stress Induction.

Costa R, Peruzzo R, Bachmann M, Montà GD, Vicario M, Santinon G, Mattarei A, Moro E, Quintana-Cabrera R, Scorrano L, Zeviani M, Vallese F, Zoratti M, Paradisi C, Argenton F, Brini M, Calì T, Dupont S, Szabò I, Leanza L.

Cell Rep. 2019 Aug 20;28(8):1949-1960.e6. doi: 10.1016/j.celrep.2019.07.050.

6.

miR-181a/b downregulation exerts a protective action on mitochondrial disease models.

Indrieri A, Carrella S, Romano A, Spaziano A, Marrocco E, Fernandez-Vizarra E, Barbato S, Pizzo M, Ezhova Y, Golia FM, Ciampi L, Tammaro R, Henao-Mejia J, Williams A, Flavell RA, De Leonibus E, Zeviani M, Surace EM, Banfi S, Franco B.

EMBO Mol Med. 2019 May;11(5). pii: e8734. doi: 10.15252/emmm.201708734.

7.

Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.

Mohanraj K, Wasilewski M, Benincá C, Cysewski D, Poznanski J, Sakowska P, Bugajska Z, Deckers M, Dennerlein S, Fernandez-Vizarra E, Rehling P, Dadlez M, Zeviani M, Chacinska A.

EMBO Mol Med. 2019 May;11(5). pii: e9561. doi: 10.15252/emmm.201809561.

8.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

Musumeci O, Barca E, Lamperti C, Servidei S, Comi GP, Moggio M, Mongini T, Siciliano G, Filosto M, Pegoraro E, Primiano G, Ronchi D, Vercelli L, Orsucci D, Bello L, Zeviani M, Mancuso M, Toscano A.

Front Neurol. 2019 Feb 27;10:160. doi: 10.3389/fneur.2019.00160. eCollection 2019.

9.

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria.

Posse V, Al-Behadili A, Uhler JP, Clausen AR, Reyes A, Zeviani M, Falkenberg M, Gustafsson CM.

PLoS Genet. 2019 Jan 3;15(1):e1007781. doi: 10.1371/journal.pgen.1007781. eCollection 2019 Jan.

10.

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.

Signes A, Cerutti R, Dickson AS, Benincá C, Hinchy EC, Ghezzi D, Carrozzo R, Bertini E, Murphy MP, Nathan JA, Viscomi C, Fernandez-Vizarra E, Zeviani M.

EMBO Mol Med. 2019 Jan;11(1). pii: e9582. doi: 10.15252/emmm.201809582.

11.

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis.

Civiletto G, Dogan SA, Cerutti R, Fagiolari G, Moggio M, Lamperti C, Benincá C, Viscomi C, Zeviani M.

EMBO Mol Med. 2018 Nov;10(11). pii: e8799. doi: 10.15252/emmm.201708799.

12.

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo.

Gammage PA, Viscomi C, Simard ML, Costa ASH, Gaude E, Powell CA, Van Haute L, McCann BJ, Rebelo-Guiomar P, Cerutti R, Zhang L, Rebar EJ, Zeviani M, Frezza C, Stewart JB, Minczuk M.

Nat Med. 2018 Nov;24(11):1691-1695. doi: 10.1038/s41591-018-0165-9. Epub 2018 Sep 24.

13.

Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.

Reyes A, Melchionda L, Burlina A, Robinson AJ, Ghezzi D, Zeviani M.

EMBO Mol Med. 2018 Oct;10(10). pii: e8698. doi: 10.15252/emmm.201708698.

14.

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy.

Dogan SA, Cerutti R, Benincá C, Brea-Calvo G, Jacobs HT, Zeviani M, Szibor M, Viscomi C.

Cell Metab. 2018 Nov 6;28(5):764-775.e5. doi: 10.1016/j.cmet.2018.07.012. Epub 2018 Aug 16.

15.

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.

Al-Behadili A, Uhler JP, Berglund AK, Peter B, Doimo M, Reyes A, Wanrooij S, Zeviani M, Falkenberg M.

Nucleic Acids Res. 2018 Oct 12;46(18):9471-9483. doi: 10.1093/nar/gky708.

16.

Human diseases associated with defects in assembly of OXPHOS complexes.

Ghezzi D, Zeviani M.

Essays Biochem. 2018 Jul 20;62(3):271-286. doi: 10.1042/EBC20170099. Print 2018 Jul 20. Review.

17.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

18.

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R.

J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15.

PMID:
29764912
19.

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.

Quadalti C, Brunetti D, Lagutina I, Duchi R, Perota A, Lazzari G, Cerutti R, Di Meo I, Johnson M, Bottani E, Crociara P, Corona C, Grifoni S, Tiranti V, Fernandez-Vizarra E, Robinson AJ, Viscomi C, Casalone C, Zeviani M, Galli C.

Biochim Biophys Acta Mol Basis Dis. 2018 Jun;1864(6 Pt A):2131-2142. doi: 10.1016/j.bbadis.2018.03.021. Epub 2018 Mar 28.

20.

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

Sharma S, Singh P, Fernandez-Vizarra E, Zeviani M, Van der Knaap MS, Saran RK.

J Child Neurol. 2018 May;33(6):428-431. doi: 10.1177/0883073818760875. Epub 2018 Mar 26.

PMID:
29577824
21.

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AM, Moroni I, Bertini E, Robinson A, Carrozzo R, Zeviani M, Ghezzi D.

J Hum Genet. 2018 May;63(5):563-568. doi: 10.1038/s10038-018-0423-1. Epub 2018 Mar 12.

22.

Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization.

Iommarini L, Ghelli A, Tropeano CV, Kurelac I, Leone G, Vidoni S, Lombes A, Zeviani M, Gasparre G, Porcelli AM.

Int J Mol Sci. 2018 Mar 7;19(3). pii: E764. doi: 10.3390/ijms19030764.

23.

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.

Torres-Torronteras J, Cabrera-Pérez R, Vila-Julià F, Viscomi C, Cámara Y, Hirano M, Zeviani M, Martí R.

Hum Gene Ther. 2018 Jun;29(6):708-718. doi: 10.1089/hum.2017.133. Epub 2018 Feb 26.

PMID:
29284302
24.

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage.

Flønes IH, Fernandez-Vizarra E, Lykouri M, Brakedal B, Skeie GO, Miletic H, Lilleng PK, Alves G, Tysnes OB, Haugarvoll K, Dölle C, Zeviani M, Tzoulis C.

Acta Neuropathol. 2018 Mar;135(3):409-425. doi: 10.1007/s00401-017-1794-7. Epub 2017 Dec 21.

PMID:
29270838
25.

Mitochondrial complex III Rieske Fe-S protein processing and assembly.

Fernandez-Vizarra E, Zeviani M.

Cell Cycle. 2018;17(6):681-687. doi: 10.1080/15384101.2017.1417707. Epub 2018 Apr 10.

26.

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.

Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Mühlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D.

J Med Genet. 2017 Dec;54(12):815-824. doi: 10.1136/jmedgenet-2017-104822. Epub 2017 Oct 27.

27.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M.

Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. doi: 10.1093/hmg/ddx314.

28.

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

Kasapkara ÇS, Tümer L, Zanetti N, Ezgü F, Lamantea E, Zeviani M.

Turk J Haematol. 2017 Dec 1;34(4):376-377. doi: 10.4274/tjh.2017.0231. Epub 2017 Aug 23. No abstract available.

29.

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.

Di Meo I, Marchet S, Lamperti C, Zeviani M, Viscomi C.

Gene Ther. 2017 Oct;24(10):661-667. doi: 10.1038/gt.2017.53. Epub 2017 Jul 27.

30.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Ardissone A, Bello L, Bruno C, Ienco EC, Diodato D, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Primiano G, Ronchi D, Rubegni A, Salvatore S, Sciacco M, Valentino ML, Vercelli L, Toscano A, Zeviani M, Siciliano G, Mancuso M.

J Neurol. 2017 Aug;264(8):1777-1784. doi: 10.1007/s00415-017-8567-z. Epub 2017 Jul 10.

PMID:
28695364
31.

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

Bottani E, Cerutti R, Harbour ME, Ravaglia S, Dogan SA, Giordano C, Fearnley IM, D'Amati G, Viscomi C, Fernandez-Vizarra E, Zeviani M.

Mol Cell. 2017 Jul 6;67(1):96-105.e4. doi: 10.1016/j.molcel.2017.06.001. Epub 2017 Jun 29.

32.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D.

Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6.

33.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS.

Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun.

34.

MtDNA-maintenance defects: syndromes and genes.

Viscomi C, Zeviani M.

J Inherit Metab Dis. 2017 Jul;40(4):587-599. doi: 10.1007/s10545-017-0027-5. Epub 2017 Mar 21. Review.

35.

Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.

Profilo E, Peña-Altamira LE, Corricelli M, Castegna A, Danese A, Agrimi G, Petralla S, Giannuzzi G, Porcelli V, Sbano L, Viscomi C, Massenzio F, Palmieri EM, Giorgi C, Fiermonte G, Virgili M, Palmieri L, Zeviani M, Pinton P, Monti B, Palmieri F, Lasorsa FM.

Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1422-1435. doi: 10.1016/j.bbadis.2017.02.022. Epub 2017 Feb 21.

36.

Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency.

Bénit P, Pelhaître A, Saunier E, Bortoli S, Coulibaly A, Rak M, Schiff M, Kroemer G, Zeviani M, Rustin P.

EBioMedicine. 2017 Mar;17:75-87. doi: 10.1016/j.ebiom.2017.02.013. Epub 2017 Feb 16.

37.

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.

Vidoni S, Harbour ME, Guerrero-Castillo S, Signes A, Ding S, Fearnley IM, Taylor RW, Tiranti V, Arnold S, Fernandez-Vizarra E, Zeviani M.

Cell Rep. 2017 Feb 14;18(7):1727-1738. doi: 10.1016/j.celrep.2017.01.044.

38.

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.

Di Nottia M, Montanari A, Verrigni D, Oliva R, Torraco A, Fernandez-Vizarra E, Diodato D, Rizza T, Bianchi M, Catteruccia M, Zeviani M, Dionisi-Vici C, Francisci S, Bertini E, Carrozzo R.

Biochim Biophys Acta Mol Basis Dis. 2017 Apr;1863(4):961-967. doi: 10.1016/j.bbadis.2017.01.022. Epub 2017 Jan 26.

39.

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Sallevelt SC, Dreesen JC, Drüsedau M, Hellebrekers DM, Paulussen AD, Coonen E, van Golde RJ, Geraedts JP, Gianaroli L, Magli MC, Zeviani M, Smeets HJ, de Die-Smulders CE.

Hum Reprod. 2017 Mar 1;32(3):698-703. doi: 10.1093/humrep/dew356.

PMID:
28122886
40.

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

Zanolini A, Potic A, Carrara F, Lamantea E, Diodato D, Blasevich F, Marchet S, Mora M, Pallotti F, Morandi L, Zeviani M, Lamperti C.

Mol Genet Metab Rep. 2016 Dec 15;10:24-27. doi: 10.1016/j.ymgmr.2016.11.009. eCollection 2017 Mar.

41.

Transcription Factor EB Controls Metabolic Flexibility during Exercise.

Mansueto G, Armani A, Viscomi C, D'Orsi L, De Cegli R, Polishchuk EV, Lamperti C, Di Meo I, Romanello V, Marchet S, Saha PK, Zong H, Blaauw B, Solagna F, Tezze C, Grumati P, Bonaldo P, Pessin JE, Zeviani M, Sandri M, Ballabio A.

Cell Metab. 2017 Jan 10;25(1):182-196. doi: 10.1016/j.cmet.2016.11.003. Epub 2016 Dec 20.

42.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J.

Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.

43.

Mitochondrial Matchmaking.

Chinnery PF, Zeviani M.

N Engl J Med. 2016 Nov 10;375(19):1894-1896. No abstract available.

PMID:
27959648
44.

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, Isoniemi H, Höckerstedt K, Österlund P, Hurme M, Jylhävä J, Leppä S, Markkula R, Heliö T, Mombelli G, Uusimaa J, Laaksonen R, Laaksovirta H, Auranen M, Zeviani M, Smeitink J, Wiesner RJ, Nakada K, Isohanni P, Suomalainen A.

Neurology. 2016 Nov 29;87(22):2290-2299. Epub 2016 Oct 28.

45.

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.

Bianciardi L, Imperatore V, Fernandez-Vizarra E, Lopomo A, Falabella M, Furini S, Galluzzi P, Grosso S, Zeviani M, Renieri A, Mari F, Frullanti E.

Mol Genet Metab. 2016 Nov;119(3):214-222. doi: 10.1016/j.ymgme.2016.09.001. Epub 2016 Sep 3.

PMID:
27623250
46.

Mitochondrial diseases.

Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM.

Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Review.

PMID:
27775730
47.

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.

Martinez Lyons A, Ardissone A, Reyes A, Robinson AJ, Moroni I, Ghezzi D, Fernandez-Vizarra E, Zeviani M.

J Med Genet. 2016 Dec;53(12):846-849. doi: 10.1136/jmedgenet-2016-104194. Epub 2016 Sep 28.

48.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR.

Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.

49.

Myoclonus epilepsy in mitochondrial disorders.

Lamperti C, Zeviani M.

Epileptic Disord. 2016 Sep 1;18(S2):94-102. Review.

PMID:
27618766
50.

Data on cytochrome c oxidase assembly in mice and human fibroblasts or tissues induced by SURF1 defect.

Kovářová N, Pecina P, Nůsková H, Vrbacký M, Zeviani M, Mráček T, Viscomi C, Houštěk J.

Data Brief. 2016 Mar 26;7:1004-9. doi: 10.1016/j.dib.2016.03.065. eCollection 2016 Jun.

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