Lista de obras - Enrico Baruffini - Dominio Público Uruguay

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

artículo científico publicado en 2007

A variable neurodegenerative phenotype with polymerase gamma mutation.

artículo científico publicado en 2009

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

artículo científico publicado en 2021

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Clinical and molecular features of mitochondrial DNA depletion syndromes.

artículo científico publicado en 2008

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2021

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2015

Insights into physiological and genetic mupirocin susceptibility in bifidobacteria

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Novel (ovario) leukodystrophy related to AARS2 mutations

artículo científico publicado en 2014

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

artículo científico publicado en 2014

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

article

Lista de obras de 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