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Items: 1 to 50 of 129

1.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Oláhová M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA.

Hum Mol Genet. 2019 Aug 22. pii: ddz202. doi: 10.1093/hmg/ddz202. [Epub ahead of print]

PMID:
31435670
2.

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
3.

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.

Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Ceccatelli Berti C, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schöls L, Shalev S, Khayat M, Mahajnah M, Spiegel R.

J Inherit Metab Dis. 2019 Mar;42(2):264-275. doi: 10.1002/jimd.12022. Epub 2019 Jan 28.

PMID:
30689204
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.

Guidelines and recommendations on yeast cell death nomenclature.

Carmona-Gutierrez D, Bauer MA, Zimmermann A, Aguilera A, Austriaco N, Ayscough K, Balzan R, Bar-Nun S, Barrientos A, Belenky P, Blondel M, Braun RJ, Breitenbach M, Burhans WC, Büttner S, Cavalieri D, Chang M, Cooper KF, Côrte-Real M, Costa V, Cullin C, Dawes I, Dengjel J, Dickman MB, Eisenberg T, Fahrenkrog B, Fasel N, Fröhlich KU, Gargouri A, Giannattasio S, Goffrini P, Gourlay CW, Grant CM, Greenwood MT, Guaragnella N, Heger T, Heinisch J, Herker E, Herrmann JM, Hofer S, Jiménez-Ruiz A, Jungwirth H, Kainz K, Kontoyiannis DP, Ludovico P, Manon S, Martegani E, Mazzoni C, Megeney LA, Meisinger C, Nielsen J, Nyström T, Osiewacz HD, Outeiro TF, Park HO, Pendl T, Petranovic D, Picot S, Polčic P, Powers T, Ramsdale M, Rinnerthaler M, Rockenfeller P, Ruckenstuhl C, Schaffrath R, Segovia M, Severin FF, Sharon A, Sigrist SJ, Sommer-Ruck C, Sousa MJ, Thevelein JM, Thevissen K, Titorenko V, Toledano MB, Tuite M, Vögtle FN, Westermann B, Winderickx J, Wissing S, Wölfl S, Zhang ZJ, Zhao RY, Zhou B, Galluzzi L, Kroemer G, Madeo F.

Microb Cell. 2018 Jan 1;5(1):4-31. doi: 10.15698/mic2018.01.607. Review.

6.

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.

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.

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.

9.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E.

Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Erratum in: Brain. 2018 Nov 1;141(11):e82.

PMID:
26912632
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.

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
12.

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW.

Hum Genet. 2015 Aug;134(8):869-79. doi: 10.1007/s00439-015-1568-z. Epub 2015 May 26.

13.

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.

14.

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.

Berti CC, Dallabona C, Lazzaretti M, Dusi S, Tosi E, Tiranti V, Goffrini P.

Microb Cell. 2015 Apr 6;2(4):126-135. doi: 10.15698/mic2015.04.196.

15.

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V.

Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19.

16.

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.

De Rocco D, Cerqua C, Goffrini P, Russo G, Pastore A, Meloni F, Nicchia E, Moraes CT, Pecci A, Salviati L, Savoia A.

Biochim Biophys Acta. 2014 Feb;1842(2):269-74. doi: 10.1016/j.bbadis.2013.12.002. Epub 2013 Dec 8.

17.

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.

Indrieri A, Conte I, Chesi G, Romano A, Quartararo J, Tatè R, Ghezzi D, Zeviani M, Goffrini P, Ferrero I, Bovolenta P, Franco B.

EMBO Mol Med. 2013 Feb;5(2):280-93. doi: 10.1002/emmm.201201739. Epub 2013 Jan 22. Erratum in: EMBO Mol Med. 2014 Jun;6(6):849.

18.

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

Panizza E, Ercolino T, Mori L, Rapizzi E, Castellano M, Opocher G, Ferrero I, Neumann HP, Mannelli M, Goffrini P.

Hum Mol Genet. 2013 Feb 15;22(4):804-15. doi: 10.1093/hmg/dds487. Epub 2012 Nov 21.

PMID:
23175444
19.

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW.

J Med Genet. 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.

20.

FLO11 expression and lipid biosynthesis are required for air-liquid biofilm formation in a Saccharomyces cerevisiae flor strain.

Zara G, Goffrini P, Lodi T, Zara S, Mannazzu I, Budroni M.

FEMS Yeast Res. 2012 Nov;12(7):864-6. doi: 10.1111/j.1567-1364.2012.00831.x. Epub 2012 Aug 6.

21.

Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60.

Rizzetto L, Zanni E, Uccelletti D, Ferrero I, Goffrini P.

J Aging Res. 2012;2012:946586. doi: 10.1155/2012/946586. Epub 2012 May 17.

22.

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW.

Mol Genet Metab. 2010 Aug;100(4):345-8. doi: 10.1016/j.ymgme.2010.04.010. Epub 2010 Apr 24.

PMID:
20472482
23.

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmüller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M.

Nat Genet. 2009 Jun;41(6):654-6. doi: 10.1038/ng.378. Epub 2009 May 24.

PMID:
19465911
24.

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor.

Goffrini P, Ercolino T, Panizza E, Giachè V, Cavone L, Chiarugi A, Dima V, Ferrero I, Mannelli M.

Hum Mol Genet. 2009 May 15;18(10):1860-8. doi: 10.1093/hmg/ddp102. Epub 2009 Mar 4.

PMID:
19261679
25.

Functional analysis of the Kluyveromyces lactis PDR1 gene.

Balkova K, Sarinova M, Hodurova Z, Goffrini P, Gbelska Y.

FEMS Yeast Res. 2009 Mar;9(2):321-7. doi: 10.1111/j.1567-1364.2008.00479.x.

26.

Oxygen is required to restore flor strain viability and lipid biosynthesis under fermentative conditions.

Zara G, Angelozzi D, Belviso S, Bardi L, Goffrini P, Lodi T, Budroni M, Mannazzu I.

FEMS Yeast Res. 2009 Mar;9(2):217-25. doi: 10.1111/j.1567-1364.2008.00472.x.

27.

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M.

Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22.

28.

Behaviour of Saccharomyces cerevisiae wine strains during adaptation to unfavourable conditions of fermentation on synthetic medium: cell lipid composition, membrane integrity, viability and fermentative activity.

Mannazzu I, Angelozzi D, Belviso S, Budroni M, Farris GA, Goffrini P, Lodi T, Marzona M, Bardi L.

Int J Food Microbiol. 2008 Jan 15;121(1):84-91. Epub 2007 Nov 12.

PMID:
18055051
29.

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.

Hum Mol Genet. 2007 May 15;16(10):1241-52. Epub 2007 Apr 2.

PMID:
17403714
30.
31.

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.

32.

The Golgi Ca2+-ATPase KlPmr1p function is required for oxidative stress response by controlling the expression of the heat-shock element HSP60 in Kluyveromyces lactis.

Uccelletti D, Farina F, Pinton P, Goffrini P, Mancini P, Talora C, Rizzuto R, Palleschi C.

Mol Biol Cell. 2005 Oct;16(10):4636-47. Epub 2005 Jul 19.

33.

Alterations of O-glycosylation, cell wall, and mitochondrial metabolism in Kluyveromyces lactis cells defective in KlPmr1p, the Golgi Ca(2+)-ATPase.

Farina F, Uccelletti D, Goffrini P, Butow RA, Abeijon C, Palleschi C.

Biochem Biophys Res Commun. 2004 Jun 11;318(4):1031-8.

PMID:
15147977
34.

Improved production of heterologous proteins by a glucose repression-defective mutant of Kluyveromyces lactis.

Donnini C, Farina F, Neglia B, Compagno MC, Uccelletti D, Goffrini P, Palleschi C.

Appl Environ Microbiol. 2004 May;70(5):2632-8.

35.
37.

RAG4 gene encodes a glucose sensor in Kluyveromyces lactis.

Betina S, Goffrini P, Ferrero I, Wésolowski-Louvel M.

Genetics. 2001 Jun;158(2):541-8.

38.

Regulation of primary carbon metabolism in Kluyveromyces lactis.

Breunig KD, Bolotin-Fukuhara M, Bianchi MM, Bourgarel D, Falcone C, Ferrero I I, Frontali L, Goffrini P, Krijger JJ, Mazzoni C, Milkowski C, Steensma HY, Wésolowski-Louvel M, Zeeman AM.

Enzyme Microb Technol. 2000 Jun 1;26(9-10):771-780.

PMID:
10862884
39.

Current awareness on yeast.

Alberti A, Goffrini P, Ferrero I, Lodi T.

Yeast. 2000 May;16(7):667-74.

40.
43.

Influence of mutations in hexose-transporter genes on glucose repression in Kluyveromyces lactis.

Weirich J, Goffrini P, Kuger P, Ferrero I, Breunig KD.

Eur J Biochem. 1997 Oct 1;249(1):248-57.

44.
45.

IMP2, a gene involved in the expression of glucose-repressible genes in Saccharomyces cerevisiae.

Lodi T, Goffrini P, Ferrero I, Donnini C.

Microbiology. 1995 Sep;141 ( Pt 9):2201-9.

PMID:
7496532
46.

A kluyveromyces lactis gene homologue to AAC2 complements the Saccaromyces cerevisiae op1 mutation.

Viola AM, Galeotti CL, Goffrini P, Ficarelli A, Ferrero I.

Curr Genet. 1995 Feb;27(3):229-33.

PMID:
7736606
48.

Glucose transport in the yeast Kluyveromyces lactis. I. Properties of an inducible low-affinity glucose transporter gene.

Wésolowski-Louvel M, Goffrini P, Ferrero I, Fukuhara H.

Mol Gen Genet. 1992 May;233(1-2):89-96.

PMID:
1603078
49.

A phosphoglucose isomerase gene is involved in the Rag phenotype of the yeast Kluyveromyces lactis.

Goffrini P, Wésolowski-Louvel M, Ferrero I.

Mol Gen Genet. 1991 Sep;228(3):401-9.

PMID:
1896011
50.

Isolation and characterization of carbon catabolite repression mutants in Saccharomyces cerevisiae.

Donnini C, Goffrini P, Rossi C, Ferrero I.

Microbiologica. 1990 Oct;13(4):283-95.

PMID:
2087199

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