List of works - Paola Goffrini

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

scientific article published on February 1995

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

scientific article published on 26 May 2015

A respiratory-deficient mutation associated with high salt sensitivity in Kluyveromyces lactis

scientific article

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

scientific article published on June 2004

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

scientific article published on 12 November 2007

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

scientific article published on 22 June 2016

DNA polymerase γ and disease: what we have learned from yeast

scientific article

Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function

scientific article

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

scientific article

Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds

scientific article published on 30 December 2020

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

scientific article published on 17 May 2012

FLO11expression and lipid biosynthesis are required for air-liquid biofilm formation in aSaccharomyces cerevisiaeflor strain

scientific article published on 06 August 2012

Functional analysis of the Kluyveromyces lactis PDR1 gene

scientific article published in March 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

scientific article published on 4 March 2009

Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1

scientific article published on 01 December 2006

Glucose transport in the yeastKluyveromyces lactis

scientific article published on 01 May 1992

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

scientific article

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

scientific article

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

scientific article published in October 1997

Isolation and molecular characterization of KlCOX14, a gene of Kluyveromyces lactis encoding a protein necessary for the assembly of the cytochrome oxidase complex

scientific article published in March 2000

Killer DNA Plasmids of the Yeast Kluyveromyces lactis

scientific article published on 01 August 1982

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

scientific article

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

scientific article published on 24 April 2010

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

scientific article published on 6 April 2015

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

scientific article

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

scientific article published in March 2009

P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

article

RAG1 and RAG2: nuclear genes involved in the dependence/independence on mitochondrial respiratory function for growth on sugars.

scientific article

Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency ⬇️

scientific article published on September 1, 2012

Regulation of primary carbon metabolism in Kluyveromyces lactis

scientific article published on 01 June 2000

Respiration-dependent utilization of sugars in yeasts: a determinant role for sugar transporters

scientific article published on January 2002

Respiratory pathways in Hansenula saturnus

scientific article published on 01 December 1983

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

scientific article

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

scientific article published on 22 May 2008

Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates

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

scientific article

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

scientific article published on 22 January 2013

The in vivo effect of acriflavine on mitochondrial functions in the petite negative yeast Hansenula saturnus

The respiratory activities of four Hansenula species

article

TheRAG2gene of the yeastKluyveromyces lactiscodes for a putative phosphoglucose isomerase ⬇️

scientific article published on September 12, 1988

Three target genes for the transcriptional activator Cat8p of Kluyveromyces lactis: acetyl coenzyme A synthetase genes KlACS1 and KlACS2 and lactate permease gene KlJEN1.

scientific article

Transcriptional regulation of the KlDLD gene, encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase in Kluyveromyces lactis: effect of Klhap2 and fog mutations

scientific article

Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy

article

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

scientific article published on 21 November 2012

List of works by Paola Goffrini

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

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

A respiratory-deficient mutation associated with high salt sensitivity in Kluyveromyces lactis

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

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

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

DNA polymerase γ and disease: what we have learned from yeast

Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function

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

Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds

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

FLO11expression and lipid biosynthesis are required for air-liquid biofilm formation in aSaccharomyces cerevisiaeflor strain

Functional analysis of the Kluyveromyces lactis PDR1 gene

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

Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1

Glucose transport in the yeastKluyveromyces lactis

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

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

Influence of mutations in hexose-transporter genes on glucose repression 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

Killer DNA Plasmids of the Yeast Kluyveromyces lactis

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

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

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

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

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

P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

RAG1 and RAG2: nuclear genes involved in the dependence/independence on mitochondrial respiratory function for growth on sugars.

Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency ⬇️

Regulation of primary carbon metabolism in Kluyveromyces lactis

Respiration-dependent utilization of sugars in yeasts: a determinant role for sugar transporters

Respiratory pathways in Hansenula saturnus

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

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

Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates

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

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

The in vivo effect of acriflavine on mitochondrial functions in the petite negative yeast Hansenula saturnus

The respiratory activities of four Hansenula species

TheRAG2gene of the yeastKluyveromyces lactiscodes for a putative phosphoglucose isomerase ⬇️

Three target genes for the transcriptional activator Cat8p of Kluyveromyces lactis: acetyl coenzyme A synthetase genes KlACS1 and KlACS2 and lactate permease gene KlJEN1.

Transcriptional regulation of the KlDLD gene, encoding the mitochondrial enzyme D-lactate ferricytochrome c oxidoreductase in Kluyveromyces lactis: effect of Klhap2 and fog mutations

Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy

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