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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.
Antiaflatoxigenic Thiosemicarbazones as Crop-Protective Agents: A Cytotoxic and Genotoxic Study.
Bartoli J, Montalbano S, Spadola G, Rogolino D, Pelosi G, Bisceglie F, Restivo FM, Degola F, Serra O, Buschini A, Feretti D, Zani C, Carcelli M.
J Agric Food Chem. 2019 Oct 2;67(39):10947-10953. doi: 10.1021/acs.jafc.9b01814.
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.
Sabotage at the Powerhouse? Unraveling the Molecular Target of 2-Isopropylbenzaldehyde Thiosemicarbazone, a Specific Inhibitor of Aflatoxin Biosynthesis and Sclerotia Development in Aspergillus flavus, Using Yeast as a Model System.
Dallabona C, Pioli M, Spadola G, Orsoni N, Bisceglie F, Lodi T, Pelosi G, Restivo FM, Degola F.
Molecules. 2019 Aug 16;24(16). pii: E2971. doi: 10.3390/molecules24162971.
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.
Aspergillus flavus as a Model System to Test the Biological Activity of Botanicals: An Example on Citrullus colocynthis L. Schrad. Organic Extracts.
Degola F, Marzouk B, Gori A, Brunetti C, Dramis L, Gelati S, Buschini A, Restivo FM.
Toxins (Basel). 2019 May 22;11(5). pii: E286. doi: 10.3390/toxins11050286.
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.
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.
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.
Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG.
Haematologica. 2018 Dec;103(12):e564-e566. doi: 10.3324/haematol.2018.194464.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.
Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.
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.
Gene variants and educational attainment in cannabis use: mediating role of DNA methylation.
Gerra MC, Jayanthi S, Manfredini M, Walther D, Schroeder J, Phillips KA, Cadet JL, Donnini C.
Transl Psychiatry. 2018 Jan 22;8(1):23. doi: 10.1038/s41398-017-0087-1.
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