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Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 833 - 843
Journal Article
Neuron, ISSN 0896-6273, 04/2013, Volume 78, Issue 1, pp. 57 - 64
Valosin-containing protein (VCP) is a highly expressed member of the type II AAA+ ATPase family. mutations are the cause of inclusion body myopathy, Paget’s... 
LIPID-PEROXIDATION | SPINAL-CORD PATHOLOGY | MOUSE MODEL | ALS | AMYOTROPHIC-LATERAL-SCLEROSIS | DYSFUNCTION | BONE | NEUROSCIENCES | PAGET-DISEASE | TRANSGENIC MICE | REVEALS | RNA, Small Interfering - genetics | Humans | Middle Aged | Male | Frontotemporal Dementia - metabolism | Neurons - ultrastructure | Muscular Dystrophies, Limb-Girdle - genetics | Adenosine Triphosphate - metabolism | Membrane Potential, Mitochondrial - genetics | Muscular Dystrophies, Limb-Girdle - pathology | NAD - metabolism | Fibroblasts - metabolism | Animals, Newborn | Frontotemporal Dementia - genetics | Magnesium - metabolism | Mitochondria - pathology | Fibroblasts - pathology | Mutation - genetics | Myositis, Inclusion Body - genetics | Osteitis Deformans - pathology | Muscular Dystrophies, Limb-Girdle - metabolism | Analysis of Variance | Luminescent Proteins - genetics | Adenosine Triphosphatases - genetics | Mice | Lipid Peroxidation - genetics | RNA, Small Interfering - metabolism | Valosin Containing Protein | Osteitis Deformans - metabolism | Family Health | Cerebral Cortex - cytology | Case-Control Studies | Osteitis Deformans - genetics | Transfection | Mitochondria - genetics | Cell Cycle Proteins - genetics | Myositis, Inclusion Body - pathology | Adult | Female | Neuroblastoma - pathology | Frontotemporal Dementia - pathology | Adenosine Triphosphatases - deficiency | Mice, Inbred C57BL | Cells, Cultured | Cell Cycle Proteins - deficiency | Mitochondria - metabolism | Animals | Oxygen Consumption - genetics | Myositis, Inclusion Body - metabolism | Aged | Nervous system diseases | Neurosciences | Genes | Amyotrophic lateral sclerosis | Genetic aspects | Adenosine triphosphatase | Dementia | Proteins | Medical research | Phosphorylation | Biomedical research | Disease | Rodents | Respiration | Experiments | Patients | Index Medicus | Report
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 01/2012, Volume 8, Issue 1, pp. e1002456 - e1002456
Pink1 is a mitochondrial kinase involved in Parkinson's disease, and loss of Pink1 function affects mitochondrial morphology via a pathway involving Parkin and... 
LIFE-SPAN | OXIDATIVE STRESS | DROSOPHILA-PARKIN MUTANTS | ALTERNATIVE OXIDASE | QUINONE OXIDOREDUCTASE | NDI1 GENE | HUMAN-CELLS | INCREASED SENSITIVITY | GENETICS & HEREDITY | MITOCHONDRIAL-DYSFUNCTION | RESERVE POOL | Electron Transport Complex III - genetics | Electron Transport Complex III - metabolism | Cytoskeletal Proteins - genetics | Saccharomyces cerevisiae - genetics | Humans | Male | Drosophila Proteins - metabolism | Ciona intestinalis - genetics | Drosophila melanogaster - genetics | Electron Transport Complex I - metabolism | GTP-Binding Proteins - genetics | Electron Transport Complex IV - metabolism | Drosophila melanogaster - metabolism | Mitochondria - genetics | Electron Transport Complex I - genetics | Mitochondrial Proteins - metabolism | Cytoskeletal Proteins - metabolism | Membrane Proteins - metabolism | Plant Proteins - metabolism | Protein-Serine-Threonine Kinases - metabolism | Oxidoreductases - metabolism | Membrane Proteins - genetics | Gene Expression Regulation | Protein-Serine-Threonine Kinases - genetics | Ubiquitin-Protein Ligases - metabolism | Mitochondria - metabolism | Electron Transport Complex IV - genetics | Parkinson Disease - genetics | Saccharomyces cerevisiae Proteins - genetics | Animals, Genetically Modified - metabolism | Animals | Animals, Genetically Modified - genetics | Saccharomyces cerevisiae Proteins - metabolism | Drosophila Proteins - genetics | Mutation | Ubiquitin-Protein Ligases - genetics | GTP-Binding Proteins - metabolism | Parkinson's disease | Physiological aspects | NADH dehydrogenase | Genetic aspects | Mitochondrial DNA | Research | Electron transport | Risk factors | Enzymes | Mitochondria | Yeast | Insects | Parkinsons disease | Genetic engineering | Grants | Experiments | Evacuations & rescues | Deoxyribonucleic acid--DNA | Defects | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Neuron, ISSN 0896-6273, 08/2012, Volume 75, Issue 4, pp. 618 - 632
Mitochondrial abnormalities have been documented in Alzheimer’s disease and related neurodegenerative disorders, but the causal relationship between... 
ALZHEIMERS-DISEASE BRAIN | DOMINANT OPTIC ATROPHY | MITOCHONDRIAL-FUNCTION | MOUSE MODEL | LIGHT-CHAIN | FRONTOTEMPORAL DEMENTIA | AXONAL-TRANSPORT | NEUROSCIENCES | DYNAMIN-RELATED PROTEIN | PHOSPHORYLATION SITES | TRANSGENIC MICE | Neurons - pathology | Microtubule-Associated Proteins - genetics | Tauopathies - genetics | Cytoskeletal Proteins - genetics | Gelsolin - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Actins - metabolism | Tauopathies - pathology | Cytoplasm - metabolism | MicroRNAs - metabolism | Green Fluorescent Proteins - genetics | Mitochondrial Proteins - genetics | Drosophila Proteins - metabolism | GTP-Binding Proteins - genetics | Nerve Degeneration - metabolism | Neurons - ultrastructure | tau Proteins - genetics | Cell Death - genetics | Mitochondria - genetics | Mitochondrial Proteins - metabolism | ATP Synthetase Complexes - metabolism | Cell Cycle Proteins - genetics | Tauopathies - complications | Cytoskeletal Proteins - metabolism | Myosins - metabolism | Cytoplasm - genetics | RNA Interference - physiology | Disease Models, Animal | In Situ Nick-End Labeling | Green Fluorescent Proteins - metabolism | Animals, Genetically Modified | Gene Expression Regulation - genetics | Drosophila | Cell Cycle Proteins - metabolism | Mitochondria - metabolism | Mitochondria - pathology | Mutation - genetics | Animals | GTP Phosphohydrolases - metabolism | Analysis of Variance | GTP Phosphohydrolases - genetics | Gelsolin - genetics | Mice | Drosophila Proteins - genetics | Nerve Degeneration - etiology | Voltage-Dependent Anion Channels - metabolism | GTP-Binding Proteins - metabolism | Nervous system diseases | Actin | Neurons | Utrophin | Myosin | Mitochondrial DNA | Alzheimer's disease | Proteins | Phosphorylation | Mitochondria | Neurotoxicity | Insects | Microscopy | Neurodegeneration | Pathogenesis | Morphology | Mutation | Defects | Index Medicus | Neurodegenerative diseases | Tau protein | Cell death | Elongation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2018, Volume 103, Issue 3, pp. 413 - 420
Journal Article