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1. Full Text Mitochondrial medicine: entering the era of treatment
by Koene, S and Smeitink, J.A.M
Journal of Internal Medicine, ISSN 0954-6820, 2009, Volume 265, Issue 2, pp. 193 - 209
Research of patients with defects in cellular energy metabolism (mitochondrial disease) has led to a better understanding of mitochondrial biology in health... 
inborn errors of metabolism | treatment | mitochondria | oxidative phosphorylation | Parkinson | mitochondrial medicine | Mitochondria | Inborn errors of metabolism | Treatment | Oxidative phosphorylation | Mitochondrial medicine | OXIDATIVE-PHOSPHORYLATION DEFICIENCY | ADENINE-NUCLEOTIDE TRANSLOCATOR | HUMAN-CELLS | HUMAN SKELETAL-MUSCLE | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | MEDICINE, GENERAL & INTERNAL | OPTIMIZED ALLOTOPIC EXPRESSION | HEREDITARY OPTIC NEUROPATHY | SUPEROXIDE-DISMUTASE | COMPLEX-I DEFICIENCY | PARKINSONS-DISEASE | Mitochondrial Diseases - genetics | Animals | DNA, Mitochondrial - genetics | DNA, Mitochondrial - metabolism | Humans | Mitochondrial Diseases - metabolism | Oxidative Phosphorylation | Mice | Mitochondrial Diseases - therapy | Energy Metabolism - genetics | Energy Metabolism - physiology | Genetic Therapy - methods | Physiological aspects | Enzymes | Mitochondrial DNA | Gene expression | Antiparkinsonian agents | Index Medicus
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2. Full Text Monogenic Mitochondrial Disorders
by Koopman, Werner J.H and Willems, Peter H.G.M and Smeitink, Jan A.M
The New England Journal of Medicine, ISSN 0028-4793, 03/2012, Volume 366, Issue 12, pp. 1132 - 1141
Rare monogenic disorders of mitochondria have shed light on mitochondrial function, and the development of therapeutic agents for these disorders may be... 
APOPTOSIS | MEDICINE, GENERAL & INTERNAL | DISEASE | UBIQUINONE OXIDOREDUCTASE DEFICIENCY | MECHANISMS | MICE | HUMAN NADH | DYSFUNCTION | MOUSE MODELS | COMPLEX-I DEFICIENCY | CYCLOSPORINE | Mitochondrial Diseases - genetics | Enzyme Replacement Therapy | Humans | Ubiquinone - analogs & derivatives | Mitochondrial Diseases - metabolism | Mitochondria - metabolism | Adenosine Triphosphate - biosynthesis | Mitochondria - ultrastructure | Cyclosporine - therapeutic use | Phenotype | Ubiquinone - therapeutic use | Mitochondrial Diseases - therapy | Mutation | Mitochondria | Care and treatment | Physiological aspects | Causes of | Mitochondrial DNA | Mitochondrial diseases | Research | Diagnosis | Proteins | Aging | Cellular biology
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3. Full Text OXPHOS mutations and neurodegeneration
by Koopman, W.J.H and Distelmaier, F and Smeitink, J.A.M and Willems, P.H.G.M
EMBO Journal, ISSN 0261-4189, 2013, Volume 32, Issue 1, pp. 9 - 29
Mitochondrial oxidative phosphorylation (OXPHOS) sustains organelle function and plays a central role in cellular energy metabolism. The OXPHOS system consists... 
neurodegeneration | OXPHOS | mitochondria | RESPIRATORY-CHAIN | OXIDATIVE STRESS | CELLULAR STRESS-RESPONSE | SUPEROXIDE-PRODUCTION | BOVINE HEART-MITOCHONDRIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | BRAIN ENERGY-METABOLISM | CYTOCHROME-C-OXIDASE | ATP SYNTHASE | MITOCHONDRIAL COMPLEX-I | STROKE-LIKE EPISODES | Humans | Oxidative Phosphorylation | Models, Molecular | Multienzyme Complexes - metabolism | Neurodegenerative Diseases - genetics | Mitochondria - metabolism | Multienzyme Complexes - genetics | Leigh Disease - genetics | Mutation - genetics | Animals | DNA, Mitochondrial - genetics | Cell Nucleus - genetics | Mitochondria - genetics | Cellular biology | Genetics | Mitochondrial DNA | Biosynthesis | Mutation | Metabolism | Neurological disorders | Review
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4. Full Text Mitochondrial ATP synthase: architecture, function and pathology
by Jonckheere, A.I and Smeitink, J.A.M and Rodenburg, R.J.T
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2012, Volume 35, Issue 2, pp. 211 - 225
Human mitochondrial (mt) ATP synthase, or complex V consists of two functional domains: F(1), situated in the mitochondrial matrix, and F(o), located in the... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | DNA T8993G MUTATION | RESPIRATORY-CHAIN | OXIDATIVE-PHOSPHORYLATION | F-1 EPSILON-SUBUNIT | BILATERAL STRIATAL NECROSIS | LEIGH-SYNDROME | BLUE NATIVE ELECTROPHORESIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ADENOSINE-TRIPHOSPHATASE | HEREDITARY OPTIC NEUROPATHY | SACCHAROMYCES-CEREVISIAE | Mitochondrial Proton-Translocating ATPases - genetics | Mitochondria - enzymology | Animals | Mitochondria - genetics | Adenosine Triphosphate - metabolism | Humans | Adenosine Diphosphate - metabolism | Mitochondria - pathology | Mitochondrial Proton-Translocating ATPases - metabolism | Oligomers | Review
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5. Full Text Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation
by Koopman, W.J.H and Nijtmans, L.G.J and Dieteren, C.E.J and Roestenberg, P.M.H and Valsecchi, F and Smeitink, J.A.M and Willems, P.H.G.M
Antioxidants & Redox Signaling, ISSN 1557-7716, 2010, Volume 12, Issue 12, pp. 1431 - 1470
Virtually every mammalian cell contains mitochondria. These double-membrane organelles continuously change shape and position and contain the complete... 
OXIDATIVE-PHOSPHORYLATION SYSTEM | RESPIRATORY-CHAIN | SUPEROXIDE-PRODUCTION | BOVINE HEART-MITOCHONDRIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | ESCHERICHIA-COLI | ENDOCRINOLOGY & METABOLISM | ENDOPLASMIC-RETICULUM | HYDROGEN-PEROXIDE | ELECTRON-TRANSPORT-CHAIN | NADH-UBIQUINONE OXIDOREDUCTASE | CELL-DEATH | Mammals - metabolism | Reactive Oxygen Species - metabolism | Electron Transport Complex I - deficiency | Humans | NADH Dehydrogenase - physiology | Mitochondrial Diseases - metabolism | Oxidative Phosphorylation | Mitochondrial Proteins - physiology | Eukaryotic Cells - metabolism | Membrane Lipids - physiology | Organ Specificity | Fibroblasts - ultrastructure | Mitochondria - ultrastructure | Animals | Biological Transport | Chromans - pharmacology | Cattle | Fibroblasts - drug effects | Eukaryotic Cells - ultrastructure | Rotenone - pharmacology | Signal Transduction - physiology | Electron Transport Complex I - physiology | Electron Transport - physiology | Mitochondria - physiology | Antioxidants | Physiological aspects | Mitochondria | Biosynthesis | Research | Reactive oxygen species | Cellular control mechanisms | Cell metabolism | NAD (Coenzyme) | Health aspects
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6. Oxidative phosphorylation in health and disease
by Smeitink, Jan A. M and Sengers, Rob C. A and Trijbels, J. M. Frans
2004, Medical intelligence unit, ISBN 0306482320, 205
Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of... 
Mitochondria | Mitochondrial pathology | Energy metabolism | Phosphorylation | Oxidative Phosphorylation | Mitochondrial Diseases | Oxidation, Physiological | Pre-clinical Medicine: Basic Sciences | Medicine & Public Health | Human Physiology | Microbial Genetics and Genomics | Metabolic Diseases | Molecular Medicine | Cell Biology | Eukaryotic Microbiology
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7. Full Text Metabolism, Gliomas, and IDH1
by Smeitink, Jan
The New England Journal of Medicine, ISSN 0028-4793, 03/2010, Volume 362, Issue 12, pp. 1144 - 1145
A mutation in IDH1, which encodes an isocitrate dehydrogenase, is associated with susceptibility to glioma. This mutation results in an acquired enzyme... 
MEDICINE, GENERAL & INTERNAL | Prognosis | Humans | Isocitrates - metabolism | Brain Neoplasms - genetics | Isocitrate Dehydrogenase - genetics | Mutant Proteins - metabolism | Genetic Markers | Metabolism, Inborn Errors - genetics | Brain Neoplasms - metabolism | Glioma - metabolism | Glioma - genetics | Isocitrate Dehydrogenase - metabolism | Glutarates - metabolism | Mutation | Ketoglutaric Acids - metabolism | Gene mutations | Gliomas | Analysis | Metabolic diseases | Genetic aspects | Research | Carcinogenesis | Metabolites | Metabolism | Disclosure | Metabolic disorders | Crystal structure
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8. Full Text Whole exome sequencing of suspected mitochondrial patients in clinical practice
by Wortmann, S.B and Koolen, D.A and Smeitink, J.A.M and Heuvel, L.P.W.J. van den and Rodenburg, R.J.T
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2015, Volume 38, Issue 3, pp. 437 - 443
Mitochondrial disorders are characterized by a broad clinical spectrum. Identical clinical signs and symptoms can be caused by mutations in different... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | DISEASE | MUTATION | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CANDIDATE GENE | GENOME | Mitochondrial Diseases - genetics | Humans | Child, Preschool | Infant | Male | Exome | Young Adult | Phenotype | Mitochondria - genetics | Adolescent | Adult | Female | Mutation | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Mitochondrial Diseases - diagnosis | Original
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