List of works - Claudia Donnini

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

scientific article

ALG/alg: a single gene controlling the utilization of lactate in the presence of antimycin in the yeast Saccharomyces cerevisiae

scientific article published on 01 August 1984

Adverse childhood experiences (ACEs), genetic polymorphisms and neurochemical correlates in experimentation with psychotropic drugs among adolescents

scientific article published on 08 December 2010

Allelic association of a dopamine transporter gene polymorphism with antisocial behaviour in heroin-dependent patients.

scientific article published in September 2005

Association between gene variants and response to buprenorphine maintenance treatment

scientific article published on 11 November 2013

Association of the serotonin transporter promoter polymorphism with smoking behavior among adolescents.

scientific article

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

scientific article published on 10 April 2017

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

scientific article

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

scientific article

Dysregulated responses to emotions among abstinent heroin users: correlation with childhood neglect and addiction severity.

scientific article

Effect of chloramphenicol, antimycin A and hydroxamate on the morphogenetic development of the dimorphic ascomycete Endomycopsis capsularis

scientific article published on 01 January 1981

Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions

scientific article published on 3 August 2015

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

scientific article published on 01 December 2006

Homovanillic acid (HVA) plasma levels inversely correlate with attention deficit-hyperactivity and childhood neglect measures in addicted patients.

scientific article published on 10 August 2007

Human kappa opioid receptor gene (OPRK1) polymorphism is associated with opiate addiction.

scientific article

IMP2, a nuclear gene controlling the mitochondrial dependence of galactose, maltose and raffinose utilization in Saccharomyces cerevisiae

scientific article published on February 1, 1992

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

scientific article

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

scientific article

KNQ1, aKluyveromyces lactisgene encoding a transmembrane protein, may be involved in iron homeostasis

scientific article published on 12 April 2007

Lactose-induced cell death of beta-galactosidase mutants in Kluyveromyces lactis.

scientific article published in May 2005

MIG1-dependent and MIG1-independent regulation of GAL gene expression in Saccharomyces cerevisiae: role of Imp2p

scientific article published in October 2003

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

scientific article

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

scientific article

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

scientific article published on 11 March 2004

Oxygen-dependent transcriptional regulator Hap1p limits glucose uptake by repressing the expression of the major glucose transporter gene RAG1 in Kluyveromyces lactis

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

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

scientific article

Promising medications for cocaine dependence treatment.

scientific article published on May 2011

Psychobiological responses to unpleasant emotions in cannabis users

scientific article published on 20 July 2011

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

scientific article

Relevance of perceived childhood neglect, 5-HTT gene variants and hypothalamus-pituitary-adrenal axis dysregulation to substance abuse susceptibility.

scientific article published in April 2010

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

scientific article published on January 2002

Secretion of human serum albumin by Kluyveromyces lactis overexpressing KlPDI1 and KlERO1.

scientific article published on August 2005

Serotonin transporter promoter polymorphism genotype is associated with temperament, personality traits and illegal drugs use among adolescents.

scientific article published on 24 January 2005

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene

article

Supervised daily consumption, contingent take-home incentive and non-contingent take-home in methadone maintenance

scientific article

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

scientific article published on 30 December 2009

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

The role of the nuclear gene "mitochondrial mutability control" (MMC1) in the process of mutability of the mitochondrial genome by different mutagens in Saccharomyces cerevisiae.

scientific article

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

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

List of works by Claudia Donnini

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

ALG/alg: a single gene controlling the utilization of lactate in the presence of antimycin in the yeast Saccharomyces cerevisiae

Adverse childhood experiences (ACEs), genetic polymorphisms and neurochemical correlates in experimentation with psychotropic drugs among adolescents

Allelic association of a dopamine transporter gene polymorphism with antisocial behaviour in heroin-dependent patients.

Association between gene variants and response to buprenorphine maintenance treatment

Association of the serotonin transporter promoter polymorphism with smoking behavior among adolescents.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

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

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

Dysregulated responses to emotions among abstinent heroin users: correlation with childhood neglect and addiction severity.

Effect of chloramphenicol, antimycin A and hydroxamate on the morphogenetic development of the dimorphic ascomycete Endomycopsis capsularis

Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions

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

Homovanillic acid (HVA) plasma levels inversely correlate with attention deficit-hyperactivity and childhood neglect measures in addicted patients.

Human kappa opioid receptor gene (OPRK1) polymorphism is associated with opiate addiction.

IMP2, a nuclear gene controlling the mitochondrial dependence of galactose, maltose and raffinose utilization in Saccharomyces cerevisiae

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

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

KNQ1, aKluyveromyces lactisgene encoding a transmembrane protein, may be involved in iron homeostasis

Lactose-induced cell death of beta-galactosidase mutants in Kluyveromyces lactis.

MIG1-dependent and MIG1-independent regulation of GAL gene expression in Saccharomyces cerevisiae: role of Imp2p

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

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

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

Oxygen-dependent transcriptional regulator Hap1p limits glucose uptake by repressing the expression of the major glucose transporter gene RAG1 in Kluyveromyces lactis

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

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

Promising medications for cocaine dependence treatment.

Psychobiological responses to unpleasant emotions in cannabis users

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

Relevance of perceived childhood neglect, 5-HTT gene variants and hypothalamus-pituitary-adrenal axis dysregulation to substance abuse susceptibility.

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

Secretion of human serum albumin by Kluyveromyces lactis overexpressing KlPDI1 and KlERO1.

Serotonin transporter promoter polymorphism genotype is associated with temperament, personality traits and illegal drugs use among adolescents.

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene

Supervised daily consumption, contingent take-home incentive and non-contingent take-home in methadone maintenance

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

The role of the nuclear gene "mitochondrial mutability control" (MMC1) in the process of mutability of the mitochondrial genome by different mutagens in Saccharomyces cerevisiae.

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

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies