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The Mitochondrial RNA-Binding Protein GRSF1 Localizes to RNA Granules and Is Required for Posttranscriptional Mitochondrial Gene Expression

Cell metabolism, 2013-03, Vol.17 (3), p.386-398

2013

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MITRAC Links Mitochondrial Protein Translocation to Respiratory-Chain Assembly and Translational Regulation

Cell, 2012-12, Vol.151 (7), p.1528-1541

2012

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Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1

Human molecular genetics, 2009-06, Vol.18 (12), p.2230-2240

2009

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Mutation in TACO1 , encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

Nature genetics, 2009-07, Vol.41 (7), p.833-837

2009

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Mitochondrial Diseases and Cardiomyopathies

Canadian journal of cardiology, 2015-11, Vol.31 (11), p.1360-1376

2015

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Radioactive labeling of mitochondrial translation products in cultured cells

Methods in molecular biology (Clifton, N.J.), 2012-01, Vol.837, p.207

2012

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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

PLoS biology, 2012-03, Vol.10 (3), p.e1001288-e1001288

2012

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Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency

The New England journal of medicine, 2004-11, Vol.351 (20), p.2080-2086

2004

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The P174L Mutation in Human Sco1 Severely Compromises Cox17-dependent Metallation but Does Not Impair Copper Binding

The Journal of biological chemistry, 2006-05, Vol.281 (18), p.12270-12276

2006

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The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis

Human molecular genetics, 2014-10, Vol.23 (19), p.5159-5170

2014

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LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria

Molecular biology of the cell, 2010-04, Vol.21 (8), p.1315-1323

2010

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The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation

Molecular biology of the cell, 2013-02, Vol.24 (3), p.184-193

2013

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A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

Human mutation, 2012-08, Vol.33 (8), p.1201-1206

2012

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A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

Cell reports (Cambridge), 2015-11, Vol.13 (5), p.981-989

2015

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Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

Journal of Inherited Metabolic Disease, 2016-03, Vol.39 (2), p.173-188

2016

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The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

Human molecular genetics, 2011-12, Vol.20 (23), p.4634-4643

2011

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Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

American journal of human genetics, 2012-01, Vol.90 (1), p.142-151

2012

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The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

Human molecular genetics, 2006-06, Vol.15 (11), p.1835-1846

2006

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Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

Human molecular genetics, 2015-01, Vol.24 (2), p.480-491

2015

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An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

American journal of human genetics, 2012-10, Vol.91 (4), p.737-743

2012

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Oxidative phosphorylation: synthesis of mitochondrially encoded proteins and assembly of individual structural subunits into functional holoenzyme complexes

Methods in molecular biology (Clifton, N.J.), 2009, Vol.554, p.143

2009

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Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

American journal of human genetics, 2010-07, Vol.87 (1), p.115-122

2010

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An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

Human molecular genetics, 2015-07, Vol.24 (14), p.4103-4113

2015

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3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.445-455

2022

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The Mitochondrial RNA-Binding Protein GRSF1 Localizes to RNA Granules and Is Required for Posttranscriptional Mitochondrial Gene Expression

MITRAC Links Mitochondrial Protein Translocation to Respiratory-Chain Assembly and Translational Regulation

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1

Mutation in TACO1 , encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

Mitochondrial Diseases and Cardiomyopathies

Radioactive labeling of mitochondrial translation products in cultured cells

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency

The P174L Mutation in Human Sco1 Severely Compromises Cox17-dependent Metallation but Does Not Impair Copper Binding

The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria

The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

Oxidative phosphorylation: synthesis of mitochondrially encoded proteins and assembly of individual structural subunits into functional holoenzyme complexes

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method

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