about
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyExome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationDNA polymerase γ and disease: what we have learned from yeastMutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.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.Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.Three target genes for the transcriptional activator Cat8p of Kluyveromyces lactis: acetyl coenzyme A synthetase genes KlACS1 and KlACS2 and lactate permease gene KlJEN1.Respiration-dependent utilization of sugars in yeasts: a determinant role for sugar transporters.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Improved production of heterologous proteins by a glucose repression-defective mutant of Kluyveromyces lactis.Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60.Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.Alterations of O-glycosylation, cell wall, and mitochondrial metabolism in Kluyveromyces lactis cells defective in KlPmr1p, the Golgi Ca(2+)-ATPase.A kluyveromyces lactis gene homologue to AAC2 complements the Saccaromyces cerevisiae op1 mutation.Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.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.Functional analysis of the Kluyveromyces lactis PDR1 gene.Oxygen is required to restore flor strain viability and lipid biosynthesis under fermentative conditions.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.Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function.Transcriptional regulation of the KlDLD gene, encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase in Kluyveromyces lactis: effect of Klhap2 and fog mutations.A respiratory-deficient mutation associated with high salt sensitivity in Kluyveromyces lactis.Isolation and molecular characterization of KlCOX14, a gene of Kluyveromyces lactis encoding a protein necessary for the assembly of the cytochrome oxidase complex.Influence of mutations in hexose-transporter genes on glucose repression in Kluyveromyces lactis.RAG1 and RAG2: nuclear genes involved in the dependence/independence on mitochondrial respiratory function for growth on sugars.Regulation of primary carbon metabolism in Kluyveromyces lactisValidation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophyFLO11expression and lipid biosynthesis are required for air-liquid biofilm formation in aSaccharomyces cerevisiaeflor strainSeverely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebratesP4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutationGalactose transport inKluyveromyces lactis: major role of the glucose permease Hgt1Glucose transport in the yeastKluyveromyces lactisThe in vivo effect of acriflavine on mitochondrial functions in the petite negative yeast Hansenula saturnusThe respiratory activities of four Hansenula speciesRespiratory pathways in Hansenula saturnus
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Paola Goffrini
@ast
Paola Goffrini
@en
Paola Goffrini
@es
Paola Goffrini
@nl
Paola Goffrini
@sl
type
label
Paola Goffrini
@ast
Paola Goffrini
@en
Paola Goffrini
@es
Paola Goffrini
@nl
Paola Goffrini
@sl
prefLabel
Paola Goffrini
@ast
Paola Goffrini
@en
Paola Goffrini
@es
Paola Goffrini
@nl
Paola Goffrini
@sl
P1053
C-3860-2015
P106
P1153
7004087302
P21
P31
P3829
P496
0000-0002-8650-4765