Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 37

1.

A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.

Chin HL, Goh DL, Wang FS, Tay SKH, Heng CK, Donnini C, Baruffini E, Pines O.

J Mol Med (Berl). 2019 Nov;97(11):1557-1566. doi: 10.1007/s00109-019-01834-5. Epub 2019 Sep 16.

PMID:
31529142
2.

Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites.

Trasviña-Arenas CH, Hoyos-Gonzalez N, Castro-Lara AY, Rodriguez-Hernandez A, Sanchez-Sandoval ME, Jimenez-Sandoval P, Ayala-García VM, Díaz-Quezada C, Lodi T, Baruffini E, Brieba LG.

Mitochondrion. 2019 Nov;49:166-177. doi: 10.1016/j.mito.2019.08.005. Epub 2019 Aug 21.

PMID:
31445096
3.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E.

Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9.

PMID:
30801875
4.

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models.

Del Dotto V, Fogazza M, Musiani F, Maresca A, Aleo SJ, Caporali L, La Morgia C, Nolli C, Lodi T, Goffrini P, Chan D, Carelli V, Rugolo M, Baruffini E, Zanna C.

Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3496-3514. doi: 10.1016/j.bbadis.2018.08.004. Epub 2018 Aug 4.

5.

Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.

Gilberti M, Baruffini E, Donnini C, Dallabona C.

PLoS One. 2018 Oct 1;13(10):e0205014. doi: 10.1371/journal.pone.0205014. eCollection 2018.

6.

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
7.

Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function.

Dallabona C, Baruffini E, Goffrini P, Lodi T.

Biochem Biophys Res Commun. 2017 Nov 18;493(2):909-913. doi: 10.1016/j.bbrc.2017.09.122. Epub 2017 Sep 22.

PMID:
28947214
8.

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

Del Dotto V, Mishra P, Vidoni S, Fogazza M, Maresca A, Caporali L, McCaffery JM, Cappelletti M, Baruffini E, Lenaers G, Chan D, Rugolo M, Carelli V, Zanna C.

Cell Rep. 2017 Jun 20;19(12):2557-2571. doi: 10.1016/j.celrep.2017.05.073.

9.

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Nasca A, Legati A, Baruffini E, Nolli C, Moroni I, Ardissone A, Goffrini P, Ghezzi D.

Hum Mutat. 2016 Sep;37(9):898-903. doi: 10.1002/humu.23033. Epub 2016 Jul 11.

10.

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA.

EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894.

11.

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.

Pitayu L, Baruffini E, Rodier C, Rötig A, Lodi T, Delahodde A.

Hum Mol Genet. 2016 Feb 15;25(4):715-27. doi: 10.1093/hmg/ddv509. Epub 2015 Dec 21.

PMID:
26692522
12.

Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy.

Nolli C, Goffrini P, Lazzaretti M, Zanna C, Vitale R, Lodi T, Baruffini E.

Mitochondrion. 2015 Nov;25:38-48. doi: 10.1016/j.mito.2015.10.002. Epub 2015 Oct 8.

PMID:
26455272
13.

Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains.

Rivero D, Berná L, Stefanini I, Baruffini E, Bergerat A, Csikász-Nagy A, De Filippo C, Cavalieri D.

Environ Microbiol. 2015 Aug;17(8):3069-81. doi: 10.1111/1462-2920.12950. Epub 2015 Jul 30.

PMID:
26079802
14.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM.

Am J Hum Genet. 2015 May 7;96(5):826-31. doi: 10.1016/j.ajhg.2015.03.010. Epub 2015 Apr 23.

15.

DNA polymerase γ and disease: what we have learned from yeast.

Lodi T, Dallabona C, Nolli C, Goffrini P, Donnini C, Baruffini E.

Front Genet. 2015 Mar 17;6:106. doi: 10.3389/fgene.2015.00106. eCollection 2015. Review.

16.

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Baruffini E, Ferrari J, Dallabona C, Donnini C, Lodi T.

Mitochondrion. 2015 Jan;20:52-63. doi: 10.1016/j.mito.2014.11.003. Epub 2014 Nov 18.

17.

Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes.

Marchi L, Polverini E, Degola F, Baruffini E, Restivo FM.

Plant Physiol Biochem. 2014 Oct;83:225-31. doi: 10.1016/j.plaphy.2014.08.003. Epub 2014 Aug 19.

PMID:
25180813
18.

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW.

PLoS Genet. 2014 Jun 5;10(6):e1004424. doi: 10.1371/journal.pgen.1004424. eCollection 2014 Jun.

19.

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D.

Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.

20.

Novel (ovario) leukodystrophy related to AARS2 mutations.

Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS.

Neurology. 2014 Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7.

21.

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D.

Hum Mutat. 2013 Nov;34(11):1501-9. doi: 10.1002/humu.22393. Epub 2013 Sep 17.

22.

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H.

Am J Hum Genet. 2013 Aug 8;93(2):211-23. doi: 10.1016/j.ajhg.2013.06.006. Epub 2013 Jul 11.

23.

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M.

Am J Hum Genet. 2012 Jun 8;90(6):1079-87. doi: 10.1016/j.ajhg.2012.04.011. Epub 2012 May 17.

24.

Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.

Baruffini E, Serafini F, Ferrero I, Lodi T.

PLoS One. 2012;7(3):e34322. doi: 10.1371/journal.pone.0034322. Epub 2012 Mar 28.

25.

Insights into physiological and genetic mupirocin susceptibility in bifidobacteria.

Serafini F, Bottacini F, Viappiani A, Baruffini E, Turroni F, Foroni E, Lodi T, van Sinderen D, Ventura M.

Appl Environ Microbiol. 2011 May;77(9):3141-6. doi: 10.1128/AEM.02540-10. Epub 2011 Mar 18.

26.

Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity.

Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF.

Hepatology. 2010 Nov;52(5):1791-6. doi: 10.1002/hep.23891.

27.

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M, Lodi T.

Mitochondrion. 2011 Jan;11(1):182-90. doi: 10.1016/j.mito.2010.09.007. Epub 2010 Sep 29.

PMID:
20883824
28.

In vivo analysis of mtDNA replication defects in yeast.

Baruffini E, Ferrero I, Foury F.

Methods. 2010 Aug;51(4):426-36. doi: 10.1016/j.ymeth.2010.02.023. Epub 2010 Mar 2.

PMID:
20206271
29.

Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants.

Baruffini E, Lodi T.

Mitochondrion. 2010 Mar;10(2):183-7. doi: 10.1016/j.mito.2009.10.002. Epub 2009 Nov 1.

PMID:
19887119
30.

A variable neurodegenerative phenotype with polymerase gamma mutation.

Stricker S, Prüss H, Horvath R, Baruffini E, Lodi T, Siebert E, Endres M, Zschenderlein R, Meisel A.

J Neurol Neurosurg Psychiatry. 2009 Oct;80(10):1181-2. doi: 10.1136/jnnp.2008.166066. No abstract available.

PMID:
19762913
31.

Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains.

Baruffini E, Serafini F, Lodi T.

J Biotechnol. 2009 Sep 25;143(4):247-54. doi: 10.1016/j.jbiotec.2009.08.007. Epub 2009 Aug 14.

PMID:
19683551
32.

Galactose transporters discriminate steric anomers at the cell surface in yeast.

Fukasawa T, Sakurai H, Nogi Y, Baruffini E.

FEMS Yeast Res. 2009 Aug;9(5):723-31. doi: 10.1111/j.1567-1364.2009.00517.x. Epub 2009 May 1.

33.

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M.

J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008-1038-z. Epub 2008 Dec 27.

PMID:
19125351
34.
36.

Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1.

Baruffini E, Goffrini P, Donnini C, Lodi T.

FEMS Yeast Res. 2006 Dec;6(8):1235-42.

37.

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M, Ferrero I.

Hum Mol Genet. 2006 Oct 1;15(19):2846-55. Epub 2006 Aug 29.

PMID:
16940310

Supplemental Content

Loading ...
Support Center