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Human Molecular Genetics, ISSN 0964-6906, 04/2014, Volume 23, Issue 8, pp. 2078 - 2093
Mitochondrial dysfunction is a significant factor in human disease, ranging from systemic disorders of childhood to cardiomyopathy, ischaemia and... 
ELECTRON-TRANSPORT CHAIN | MALE-INFERTILITY | LIFE-SPAN | GENETIC-ANALYSIS | LEIGH-SYNDROME | REGULATES OXIDATIVE STRESS | HUMAN-CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MITOCHONDRIAL-DYSFUNCTION | C-OXIDASE | ROS PRODUCTION | Infertility, Male - prevention & control | Electron Transport Complex IV - antagonists & inhibitors | Cytochrome-c Oxidase Deficiency - metabolism | Neurodegenerative Diseases - etiology | Humans | Infertility, Male - etiology | Neurodegenerative Diseases - prevention & control | Developmental Disabilities - prevention & control | Male | Mitochondrial Proteins - genetics | Drosophila melanogaster - genetics | Immunoenzyme Techniques | Electron Transport Complex IV - metabolism | Drosophila melanogaster - metabolism | Mitochondrial Proteins - metabolism | Female | Plant Proteins - metabolism | Real-Time Polymerase Chain Reaction | Cytochrome-c Oxidase Deficiency - complications | Oxidoreductases - metabolism | Oxidoreductases - genetics | Developmental Disabilities - etiology | RNA, Messenger - genetics | Cells, Cultured | Mitochondria - metabolism | Electron Transport Complex IV - genetics | Mitochondria - pathology | Reverse Transcriptase Polymerase Chain Reaction | Animals, Genetically Modified - metabolism | Blotting, Western | Plant Proteins - genetics | Phenotype | Animals | Animals, Genetically Modified - growth & development | Animals, Genetically Modified - genetics | Drosophila melanogaster - growth & development | Cytochrome-c Oxidase Deficiency - genetics
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2003, Volume 100, Issue 2, pp. 605 - 610
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 01/2014, Volume 1842, Issue 1, pp. 56 - 64
Mitochondrial aminoacyl-tRNA synthetases (aaRSs) are essential enzymes in protein synthesis since they charge tRNAs with their cognate amino acids. Mutations... 
Mitochondria | Aminoacylation | Aminoacyl-tRNA synthetase | Protein synthesis | Mitochondrial disease | Mitochondrial translation | HUMAN-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | BRAIN-STEM | SIDEROBLASTIC ANEMIA | MISSENSE MUTATIONS | PERRAULT SYNDROME | HEARING-LOSS | LEUKOENCEPHALOPATHY | BIOPHYSICS | CAUSES MYOPATHY | LACTIC-ACIDOSIS | DNA MUTATIONS | Mitochondria - enzymology | Humans | Child, Preschool | Molecular Sequence Data | Male | RNA, Messenger - metabolism | Electron Transport Complex IV - metabolism | Myoblasts - metabolism | Mitochondria - genetics | Cyclooxygenase 2 - genetics | RNA, Transfer - genetics | Epilepsy - genetics | Cytochrome-c Oxidase Deficiency - enzymology | Amino Acyl-tRNA Synthetases - metabolism | Fibroblasts - metabolism | Amino Acyl-tRNA Synthetases - genetics | Epilepsy - enzymology | Amino Acid Sequence | Cytochrome-c Oxidase Deficiency - pathology | Cyclooxygenase 1 - genetics | Cytochrome-c Oxidase Deficiency - complications | Gene Expression | Muscle, Skeletal - enzymology | RNA, Transfer - metabolism | RNA, Messenger - genetics | Electron Transport Complex IV - genetics | Mitochondria - pathology | Myoblasts - pathology | Epilepsy - complications | Cyclooxygenase 2 - metabolism | Fibroblasts - cytology | Cyclooxygenase 1 - metabolism | Muscle, Skeletal - pathology | Mutation | Cytochrome-c Oxidase Deficiency - genetics | Epilepsy - pathology | Cytochrome c | Phenylalanine | Analysis | Epilepsy | Cytochrome oxidase | Protein biosynthesis | Genetic aspects | Aminoacyl-tRNA synthetases | Transfer RNA | Protein binding
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 209 - 222
Journal Article