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Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

American journal of human genetics, 2011-10, Vol.89 (4), p.486-495

2011

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The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

Biochemical journal, 2004-08, Vol.382 (Pt 1), p.331-336

2004

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Synthesis, physiochemical characterization, and biocompatibility of a chitosan/dextran-based hydrogel for postsurgical adhesion prevention

Journal of materials science. Materials in medicine, 2014-12, Vol.25 (12), p.2743-2756

2014

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Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria

Biochemical journal, 2008-11, Vol.416 (1), p.15-26

2008

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LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model

Biochemical journal, 2012-01, Vol.441 (1), p.275-283

2012

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Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy

PloS one, 2013-03, Vol.8 (3), p.e57195-e57195

2013

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Diagnostic Accuracy of Blood Lactate-to-Pyruvate Molar Ratio in the Differential Diagnosis of Congenital Lactic Acidosis

Clinical chemistry (Baltimore, Md.), 2007-05, Vol.53 (5), p.916-921

2007

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Human Complex I deficiency: Clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

Biochimica et biophysica acta, 1998-05, Vol.1364 (2), p.271-286

Robinson, Brian H

1998

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Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations

Molecular genetics and metabolism, 2013-01, Vol.108 (1), p.40-50

2013

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Mitochondria, oxygen free radicals, disease and ageing

Trends in Biochemical Sciences, 2000-10, Vol.25 (10), p.502-508

2000

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Micellization of Hydrocarbon Surfactants in Supercritical Carbon Dioxide

Journal of the American Chemical Society, 2001-02, Vol.123 (5), p.988-989

2001

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Control of oxygen free radical formation from mitochondrial complex I: roles for protein kinase A and pyruvate dehydrogenase kinase

Free radical biology & medicine, 2002-03, Vol.32 (5), p.421-430

2002

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Thermodynamic and kinetic stability. Properties of micelles and vesicles formed by the decanoic acid/decanoate system

Colloids and surfaces. A, Physicochemical and engineering aspects, 2003-02, Vol.213 (1), p.37-44

2003

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Lactic acidemia and mitochondrial disease

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.3-13

Robinson, Brian H.

2006

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Synthesis, Structure, and Redox Chemistry of Ethenyl and Ethynyl Ferrocene Polyaromatic Dyads

Organometallics, 2005-04, Vol.24 (9), p.2051-2060

2005

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Formation and Morphology of Calcium Sulfate Nanoparticles and Nanowires in Water-in-Oil Microemulsions

Langmuir, 1999-03, Vol.15 (6), p.1993-2002

1999

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Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

Pediatric neurology, 2009-07, Vol.41 (1), p.27-33

2009

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Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia

Molecular and Cellular Biology, 2004-01, Vol.24 (2), p.527-536

2004

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Automated Spectrophotometric Analysis of Mitochondrial Respiratory Chain Complex Enzyme Activities in Cultured Skin Fibroblasts

Clinical chemistry (Baltimore, Md.), 2005-11, Vol.51 (11), p.2110-2116

2005

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Mitochondrial structure and function in the untreated Jackson toxic milk (tx-j) mouse, a model for Wilson disease

Molecular genetics and metabolism, 2008, Vol.93 (1), p.54-65

2008

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Unusual Low-Energy Near-Infrared Bands for Ferrocenyl–Naphthalimide Donor–Acceptor Dyads with Aromatic Spacer Groups: Prediction by Time-Dependent DFT and Observation by OTTLE Spectroscopy

Organometallics, 2015-06, Vol.34 (11), p.2662-2666

2015

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Energy intake rate influences survival of Black Oystercatcher Haematopus bachmani broods

Marine ornithology, 2019-10, Vol.47 (2), p.277

2019

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Low-concentration methylene blue maintains energy production and strongly improves survival of Leigh syndrome French Canadian skin fibroblasts

Journal of pharmacy & pharmaceutical sciences, 2011-01, Vol.14 (3), p.438

2011

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Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

Inhibition of Mitochondrial Translation as a Therapeutic Strategy for Human Acute Myeloid Leukemia

The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

Synthesis, physiochemical characterization, and biocompatibility of a chitosan/dextran-based hydrogel for postsurgical adhesion prevention

Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria

LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model

Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy

Diagnostic Accuracy of Blood Lactate-to-Pyruvate Molar Ratio in the Differential Diagnosis of Congenital Lactic Acidosis

Human Complex I deficiency: Clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations

Mitochondria, oxygen free radicals, disease and ageing

Micellization of Hydrocarbon Surfactants in Supercritical Carbon Dioxide

Control of oxygen free radical formation from mitochondrial complex I: roles for protein kinase A and pyruvate dehydrogenase kinase

Thermodynamic and kinetic stability. Properties of micelles and vesicles formed by the decanoic acid/decanoate system

Lactic acidemia and mitochondrial disease

Synthesis, Structure, and Redox Chemistry of Ethenyl and Ethynyl Ferrocene Polyaromatic Dyads

Formation and Morphology of Calcium Sulfate Nanoparticles and Nanowires in Water-in-Oil Microemulsions

Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia

Automated Spectrophotometric Analysis of Mitochondrial Respiratory Chain Complex Enzyme Activities in Cultured Skin Fibroblasts

Mitochondrial structure and function in the untreated Jackson toxic milk (tx-j) mouse, a model for Wilson disease

Unusual Low-Energy Near-Infrared Bands for Ferrocenyl–Naphthalimide Donor–Acceptor Dyads with Aromatic Spacer Groups: Prediction by Time-Dependent DFT and Observation by OTTLE Spectroscopy

Energy intake rate influences survival of Black Oystercatcher Haematopus bachmani broods

Low-concentration methylene blue maintains energy production and strongly improves survival of Leigh syndrome French Canadian skin fibroblasts

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