Paola Goffrini

Author PubWeight™ 15.00‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 2008 1.54
2 SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet 2009 1.51
3 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 2007 1.24
4 Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet 2012 1.04
5 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 2007 0.98
6 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol Genet Metab 2010 0.88
7 The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. EMBO Mol Med 2013 0.86
8 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 2005 0.85
9 Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1. FEMS Yeast Res 2006 0.83
10 FLO11 expression and lipid biosynthesis are required for air-liquid biofilm formation in a Saccharomyces cerevisiae flor strain. FEMS Yeast Res 2012 0.82
11 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. Hum Mol Genet 2012 0.82
12 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Hum Genet 2015 0.79
13 Improved production of heterologous proteins by a glucose repression-defective mutant of Kluyveromyces lactis. Appl Environ Microbiol 2004 0.78
14 Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60. J Aging Res 2012 0.77
15 Oxygen is required to restore flor strain viability and lipid biosynthesis under fermentative conditions. FEMS Yeast Res 2009 0.77
16 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 2004 0.76
17 Functional analysis of the Kluyveromyces lactis PDR1 gene. FEMS Yeast Res 2009 0.75