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

Nature genetics, 2006-05, Vol.38 (5), p.570-575

2006

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

PloS one, 2012-03, Vol.7 (3), p.e34322-e34322

2012

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Respiration-Dependent Utilization of Sugars in Yeasts: a Determinant Role for Sugar Transporters

Journal of Bacteriology, 2002-01, Vol.184 (2), p.427-432

2002

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Oxygen-Dependent Transcriptional Regulator Hap1p Limits Glucose Uptake by Repressing the Expression of the Major Glucose Transporter Gene RAG1 in Kluyveromyces lactis

Eukaryotic Cell, 2008-11, Vol.7 (11), p.1895-1905

2008

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Polymerase γ Gene POLG determines the risk of sodium valproate‐induced liver toxicity

Hepatology (Baltimore, Md.), 2010-11, Vol.52 (5), p.1791-1796

2010

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In vivo analysis of mtDNA replication defects in yeast

Methods (San Diego, Calif.), 2010-08, Vol.51 (4), p.426-436

2010

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

Human molecular genetics, 2007-05, Vol.16 (10), p.1241-1252

2007

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

Human molecular genetics, 2010-03, Vol.19 (6), p.1098-1107

2010

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The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

American journal of human genetics, 2009-05, Vol.84 (5), p.594-604

2009

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

Human molecular genetics, 2006-10, Vol.15 (19), p.2846-2855

2006

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Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

American journal of human genetics, 2007-01, Vol.80 (1), p.44-58

2007

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Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human

Biochimica et biophysica acta, 2007-12, Vol.1772 (11), p.1225-1235

2007

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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome (P1.301)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

Human molecular genetics, 2005-10, Vol.14 (20), p.3079-3088

2005

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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

Human molecular genetics, 2009-05, Vol.18 (10), p.1860-1868

2009

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

Mitochondrion, 2011-01, Vol.11 (1), p.182-190

2011

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Mitochondrial DNA defects in caused by functional interactions between DNA polymerase gamma mutations associated with disease in human

Biochimica et biophysica acta. Molecular basis of disease, 2007-12, Vol.1772 (11-12)

2007

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

Molecular genetics and metabolism, 2010-08, Vol.100 (4), p.345-348

2010

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

Human molecular genetics, 2004-05, Vol.13 (9), p.923-934

2004

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POLG determines the risk of sodium valproate induced liver toxicity

Hepatology (Baltimore, Md.), 2010-11, Vol.52 (5)

2010

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Polymerase [gamma] Gene POLG determines the risk of sodium valproate-induced liver toxicity

Hepatology (Baltimore, Md.), 2010-11, Vol.52 (5), p.1791

2010

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Carboxylic acids permeases in yeast: two genes in Kluyveromyces lactis

Gene, 2004-09, Vol.339 (C), p.111-119

2004

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Mutation D104G in ANT1 gene: Complementation study in Saccharomyces cerevisiae as a model system

Biochemical and biophysical research communications, 2006-03, Vol.341 (3), p.810-815

2006

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Polymerase y Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity

Hepatology (Baltimore, Md.), 2010, Vol.52 (5), p.1791-1796

2010

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RAG4 gene encodes a glucose sensor in Kluyveromyces lactis

Genetics (Austin), 2001-06, Vol.158 (2), p.541-548

2001

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

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

Respiration-Dependent Utilization of Sugars in Yeasts: a Determinant Role for Sugar Transporters

Oxygen-Dependent Transcriptional Regulator Hap1p Limits Glucose Uptake by Repressing the Expression of the Major Glucose Transporter Gene RAG1 in Kluyveromyces lactis

Polymerase γ Gene POLG determines the risk of sodium valproate‐induced liver toxicity

In vivo analysis of mtDNA replication defects in yeast

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

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

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

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

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome (P1.301)

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

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

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

Mitochondrial DNA defects in caused by functional interactions between DNA polymerase gamma mutations associated with disease in human

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

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

POLG determines the risk of sodium valproate induced liver toxicity

Polymerase [gamma] Gene POLG determines the risk of sodium valproate-induced liver toxicity

Carboxylic acids permeases in yeast: two genes in Kluyveromyces lactis

Mutation D104G in ANT1 gene: Complementation study in Saccharomyces cerevisiae as a model system

Polymerase y Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity

RAG4 gene encodes a glucose sensor in Kluyveromyces lactis

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