List of works - Enrico Baruffini

A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability

scientific article

A variable neurodegenerative phenotype with polymerase gamma mutation.

scientific article

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

scientific article published on 11 May 2021

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

scientific article published on 22 June 2016

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

scientific article

Clinical and molecular features of mitochondrial DNA depletion syndromes.

scientific article

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.

scientific article published on 21 December 2015

Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains.

scientific article published on 14 August 2009

Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants.

scientific article published in November 2009

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

scientific article

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

scientific article published on 23 December 2015

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

scientific article

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

scientific article

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations

scientific article published on 24 November 2020

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

scientific article

Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish

scientific article published on 19 January 2021

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

scientific article published on 01 December 2006

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

scientific article published on 29 August 2006

Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes

scientific article published on 19 August 2014

Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains

scientific article published on 16 June 2015

Insights into physiological and genetic mupirocin susceptibility in bifidobacteria

scientific article

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

scientific article

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

scientific article published on 21 May 2020

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

scientific article published on 17 May 2012

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

scientific article published in June 2017

Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast

scientific article

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

scientific article published in PLoS ONE

Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity

scientific article published on November 2010

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae

scientific article

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

scientific article published on 29 September 2010

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

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

article

List of works by Enrico Baruffini

A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability

A variable neurodegenerative phenotype with polymerase gamma mutation.

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

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

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.

Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains.

Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants.

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

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

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

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish

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

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes

Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains

Insights into physiological and genetic mupirocin susceptibility in bifidobacteria

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

Novel (ovario) leukodystrophy related to AARS2 mutations

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast

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

Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

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