Aneli S, et al. (2024) Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae. Hum Mol Genet 33(13):1152-1163 PMID:38558123
Figuccia S, et al. (2024) Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases. Hum Mol Genet 33(18):1630-1641 PMID:39230874
Marzollo A, et al. (2024) Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene. Br J Haematol 205(1):306-315 PMID:38815995
Ceccatelli Berti C, et al. (2022) Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress. Int J Mol Sci 24(1) PMID:36613877
Aleo SJ, et al. (2021) Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations. Hum Mol Genet 29(22):3631-3645 PMID:33231680
Ceccatelli Berti C, et al. (2021) The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases. Genes (Basel) 12(2) PMID:33672627
Figuccia S, et al. (2021) Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants. Int J Mol Sci 22(9) PMID:33926074
Gilea AI, et al. (2021)Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability. Genes (Basel) 12(12) PMID:34946817
Ceccatelli Berti C, et al. (2020) Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds. Int J Mol Sci 22(1) PMID:33396642
Dallabona C, et al. (2017) Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function. Biochem Biophys Res Commun 493(2):909-913 PMID:28947214
Brunetti D, et al. (2016) Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Mol Med 8(3):176-90 PMID:26697887
Dallabona C, et al. (2016) LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain 139(Pt 3):782-94 PMID:26912632
Nasca A, et al. (2016) Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. Hum Mutat 37(9):898-903 PMID:27328748
Alston CL, et al. (2015) A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Hum Genet 134(8):869-79 PMID:26008905
Ceccatelli Berti C, et al. (2015) Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism. Microb Cell 2(4):126-135 PMID:28357284
Nolli C, et al. (2015) Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy. Mitochondrion 25:38-48 PMID:26455272
De Rocco D, et al. (2014) Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. Biochim Biophys Acta 1842(2):269-74 PMID:24326104
Dusi S, et al. (2014) Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet 94(1):11-22 PMID:24360804
Panizza E, et al. (2013) Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. Hum Mol Genet 22(4):804-15 PMID:23175444
Alston CL, et al. (2012) Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet 49(9):569-77 PMID:22972948
Zara G, et al. (2012) FLO11 expression and lipid biosynthesis are required for air-liquid biofilm formation in a Saccharomyces cerevisiae flor strain. FEMS Yeast Res 12(7):864-6 PMID:22805178
Tuppen HA, et al. (2010) Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol Genet Metab 100(4):345-8 PMID:20472482
Ghezzi D, et al. (2009) SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet 41(6):654-6 PMID:19465911
Goffrini P, et al. (2009) 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. Hum Mol Genet 18(10):1860-8 PMID:19261679
Zara G, et al. (2009) Oxygen is required to restore flor strain viability and lipid biosynthesis under fermentative conditions. FEMS Yeast Res 9(2):217-25 PMID:19220867
Mannazzu I, et al. (2008) 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. Int J Food Microbiol 121(1):84-91 PMID:18055051
Massa V, et al. (2008) Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 82(6):1281-9 PMID:18499082
Fernandez-Vizarra E, et al. (2007) Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 16(10):1241-52 PMID:17403714
Goffrini P (2007) A respiratory-deficient mutation associated with high salt sensitivity in Kluyveromyces lactis. FEMS Yeast Res 7(2):180-7 PMID:17328740
Uccelletti D, et al. (2005) 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. Mol Biol Cell 16(10):4636-47 PMID:16030259
Donnini C, et al. (2004) Improved production of heterologous proteins by a glucose repression-defective mutant of Kluyveromyces lactis. Appl Environ Microbiol 70(5):2632-8 PMID:15128512
Farina F, et al. (2004) Alterations of O-glycosylation, cell wall, and mitochondrial metabolism in Kluyveromyces lactis cells defective in KlPmr1p, the Golgi Ca(2+)-ATPase. Biochem Biophys Res Commun 318(4):1031-8 PMID:15147977
Goffrini P, et al. (2002) Respiration-dependent utilization of sugars in yeasts: a determinant role for sugar transporters. J Bacteriol 184(2):427-32 PMID:11751819
Lodi T, et al. (2001) Three target genes for the transcriptional activator Cat8p of Kluyveromyces lactis: acetyl coenzyme A synthetase genes KlACS1 and KlACS2 and lactate permease gene KlJEN1. J Bacteriol 183(18):5257-61 PMID:11514507
Alberti A, et al. (2000) Cloning and characterization of the lactate-specific inducible gene KlCYB2, encoding the cytochrome b(2) of Kluyveromyces lactis. Yeast 16(7):657-65 PMID:10806428
Fiori A, et al. (2000) Isolation and molecular characterization of KlCOX14, a gene of Kluyveromyces lactis encoding a protein necessary for the assembly of the cytochrome oxidase complex. Yeast 16(4):307-14 PMID:10669868
Lodi T, et al. (1998) Transcriptional regulation of the KlDLD gene, encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase in Kluyveromyces lactis: effect of Klhap2 and fog mutations. Curr Genet 34(1):12-20 PMID:9683671
Goffrini P, et al. (1996) FOG1 and FOG2 genes, required for the transcriptional activation of glucose-repressible genes of Kluyveromyces lactis, are homologous to GAL83 and SNF1 of saccharomyces cerevisiae. Curr Genet 29(4):316-26 PMID:8598052
Lodi T, et al. (1995) IMP2, a gene involved in the expression of glucose-repressible genes in Saccharomyces cerevisiae. Microbiology (Reading) 141 ( Pt 9):2201-9 PMID:7496532
Lodi T, et al. (1994) Carbon catabolite repression in Kluyveromyces lactis: isolation and characterization of the KIDLD gene encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase. Mol Gen Genet 244(6):622-9 PMID:7969031
Wésolowski-Louvel M, et al. (1992) Glucose transport in the yeast Kluyveromyces lactis. I. Properties of an inducible low-affinity glucose transporter gene. Mol Gen Genet 233(1-2):89-96 PMID:1603078
Goffrini P, et al. (1991) A phosphoglucose isomerase gene is involved in the Rag phenotype of the yeast Kluyveromyces lactis. Mol Gen Genet 228(3):401-9 PMID:1896011