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TEFM (c17orf42) is necessary for transcription of human mtDNA

Nucleic acids research, 2011-05, Vol.39 (10), p.4284-4299

2011

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Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation

Antioxidants & redox signaling, 2010-06, Vol.12 (12), p.1431-1470

2010

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Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

Brain (London, England : 1878), 2012-01, Vol.135 (1), p.12-22

2012

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The Assembly Pathway of Mitochondrial Respiratory Chain Complex I

Cell metabolism, 2017-01, Vol.25 (1), p.128-139

2017

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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Nature genetics, 2012-07, Vol.44 (7), p.797-802

2012

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Unraveling the complexity of mitochondrial complex I assembly: A dynamic process

Biochimica et biophysica acta, 2016-07, Vol.1857 (7), p.980-990

2016

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Ribosome profiling reveals features of normal and disease-associated mitochondrial translation

Nature communications, 2013-12, Vol.4 (1), p.2886-2886, Article 2886

2013

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TMEM70 functions in the assembly of complexes I and V

Biochimica et biophysica acta. Bioenergetics, 2020-08, Vol.1861 (8), p.148202-148202, Article 148202

2020

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Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Human mutation, 2015-01, Vol.36 (1), p.34-38

2015

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Identification of Mitochondrial Complex I Assembly Intermediates by Tracing Tagged NDUFS3 Demonstrates the Entry Point of Mitochondrial Subunits

The Journal of biological chemistry, 2007-03, Vol.282 (10), p.7582-7590

2007

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Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins

Biochemical journal, 2006-08, Vol.398 (1), p.107-112

2006

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Human mitochondrial complex I assembly: A dynamic and versatile process

Biochimica et biophysica acta, 2007-10, Vol.1767 (10), p.1215-1227

2007

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Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

Human molecular genetics, 2004-03, Vol.13 (6), p.659-667

2004

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Solute diffusion is hindered in the mitochondrial matrix

Proceedings of the National Academy of Sciences - PNAS, 2011-05, Vol.108 (21), p.8657-8662

2011

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Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

American journal of human genetics, 2016-07, Vol.99 (1), p.208-216

2016

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ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

Human molecular genetics, 2014-03, Vol.23 (5), p.1311-1319

2014

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Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

Genome biology, 2012-02, Vol.13 (2), p.R12-R12

2012

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NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1273-1277

2017

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Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

American Journal of Physiology: Cell Physiology, 2007-07, Vol.293 (1), p.C22-C29

2007

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Blue Native electrophoresis to study mitochondrial and other protein complexes

Methods (San Diego, Calif.), 2002-04, Vol.26 (4), p.327-334

2002

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Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Human mutation, 2017-06, Vol.38 (6), p.692-703

2017

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Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

Genes & development, 2007-03, Vol.21 (5), p.615-624

2007

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A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

Human molecular genetics, 2014-12, Vol.23 (23), p.6356-6365

2014

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Subunits of Mitochondrial Complex I Exist as Part of Matrix- and Membrane-associated Subcomplexes in Living Cells

The Journal of biological chemistry, 2008-12, Vol.283 (50), p.34753-34761

2008

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Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

PloS one, 2013-07, Vol.8 (7), p.e68340-e68340

2013

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TEFM (c17orf42) is necessary for transcription of human mtDNA

Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

The Assembly Pathway of Mitochondrial Respiratory Chain Complex I

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Unraveling the complexity of mitochondrial complex I assembly: A dynamic process

Ribosome profiling reveals features of normal and disease-associated mitochondrial translation

TMEM70 functions in the assembly of complexes I and V

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Identification of Mitochondrial Complex I Assembly Intermediates by Tracing Tagged NDUFS3 Demonstrates the Entry Point of Mitochondrial Subunits

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins

Human mitochondrial complex I assembly: A dynamic and versatile process

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

Solute diffusion is hindered in the mitochondrial matrix

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

Blue Native electrophoresis to study mitochondrial and other protein complexes

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

Subunits of Mitochondrial Complex I Exist as Part of Matrix- and Membrane-associated Subcomplexes in Living Cells

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

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