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Nature (London), ISSN 1476-4687, 2015, Volume 525, Issue 7567, pp. 129 - 133
...). The basis for pathogenesis is unknown. To elucidate the consequences of G(4)C(2) repeat expansion in a tractable genetic system, we generated transgenic fly lines expressing 8, 28 or 58 G(4)C(2... 
C9FTD/ALS | MULTIDISCIPLINARY SCIENCES | NUCLEAR-PORE COMPLEX | FRONTOTEMPORAL DEMENTIA | DISEASE | MESSENGER-RNA EXPORT | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | PROTEINS | HEXANUCLEOTIDE REPEAT | STEM-CELL MODELS | Protein Biosynthesis | Salivary Glands - pathology | DNA Repeat Expansion - genetics | Humans | Male | Neurons - cytology | Drosophila melanogaster - genetics | Salivary Glands - cytology | RNA - genetics | Drosophila melanogaster - metabolism | RNA Transport - genetics | Female | C9orf72 Protein | Neurons - metabolism | Induced Pluripotent Stem Cells - cytology | Muscles - metabolism | Active Transport, Cell Nucleus - genetics | Frontotemporal Dementia - pathology | Induced Pluripotent Stem Cells - metabolism | RNA - metabolism | Eye - metabolism | Frontotemporal Dementia - genetics | Animals, Genetically Modified | Amyotrophic Lateral Sclerosis - genetics | Nuclear Pore - pathology | Drosophila melanogaster - cytology | Nuclear Pore - genetics | Nuclear Pore - metabolism | Open Reading Frames - genetics | Proteins - genetics | Amyotrophic Lateral Sclerosis - pathology | Phenotype | Animals | HeLa Cells | Salivary Glands - metabolism | Muscles - cytology | Trinucleotide repeats | Genetic research | Genetic aspects | Research | Biological transport | Cytoplasm | Proteins | Insects | Toxicity | Pathogenesis | Amyotrophic lateral sclerosis | Chromosomes | Dementia | RAN translation | genetic screen | repeat expansion | Drosophila | DPR | FTD | ALS | C9ORF72 | nuclear pore
Journal Article
PLoS genetics, ISSN 1553-7404, 2012, Volume 8, Issue 1, p. e1002456
.... Pink1 loss also affects the enzymatic activity of isolated Complex I of the electron transport chain (ETC... 
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 | Deoxyribonucleic acid | DNA
Journal Article
Nature (London), ISSN 1476-4687, 2015, Volume 525, Issue 7567, pp. 56 - 61
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2012, Volume 8, Issue 3, p. e1002537
Journal Article
The Journal of neuroscience, ISSN 1529-2401, 2012, Volume 32, Issue 8, pp. 2628 - 2636
Previous studies in Caenorhabditis elegans showed that RPM-1 (Regulator of Presynaptic Morphology-1) regulates axon termination and synapse formation. To... 
REGULATOR | GENE | MAP KINASE PATHWAY | SYNAPTOGENESIS | NUCLEAR-PORE COMPLEX | NEURONS | RNA EXPORT FACTOR | C-ELEGANS | RPM-1 | NUP98 | NEUROSCIENCES | Protein Binding - genetics | Immunoprecipitation | Humans | Caenorhabditis elegans Proteins - metabolism | Molecular Sequence Data | rab GTP-Binding Proteins - genetics | Axons - physiology | Synapses - genetics | Amino Acid Sequence - genetics | Guanine Nucleotide Exchange Factors - metabolism | Mass Spectrometry | Mechanoreceptors - cytology | rab GTP-Binding Proteins - metabolism | Guanine Nucleotide Exchange Factors - genetics | Animals, Genetically Modified | F-Box Proteins - metabolism | Gene Expression Regulation - genetics | Synapses - physiology | Ubiquitin-Protein Ligases - metabolism | Nuclear Matrix-Associated Proteins - metabolism | Signal Transduction - genetics | Mutation - genetics | Nucleocytoplasmic Transport Proteins - genetics | Caenorhabditis elegans | Microscopy, Confocal | Nuclear Matrix-Associated Proteins - deficiency | Animals | Nucleocytoplasmic Transport Proteins - metabolism | Nuclear Matrix-Associated Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Luminescent Proteins - genetics | Nucleocytoplasmic Transport Proteins - deficiency | Adaptor Proteins, Signal Transducing - metabolism | Amino Acid Motifs - genetics | Ubiquitin-Protein Ligases - genetics | Caenorhabditis elegans Proteins - genetics | F-Box Proteins - genetics
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2008, Volume 31, Issue 2, pp. 230 - 239
Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | LINKED MENTAL-RETARDATION | ARGININE RESTRICTION | ENERGY HOMEOSTASIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | MAGNETIC-RESONANCE | CLINICAL CHARACTERISTICS | RAT-BRAIN | TRANSPORTER GENE SLC6A8 | INBORN ERROR | Glycine - analogs & derivatives | Glycine - metabolism | Prognosis | Guanidinoacetate N-Methyltransferase - genetics | Humans | Brain - enzymology | Amidinotransferases - genetics | Developmental Disabilities - genetics | Intellectual Disability - genetics | Membrane Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - genetics | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Movement Disorders - enzymology | Intellectual Disability - enzymology | Creatine - deficiency | Amidinotransferases - deficiency | Genetic Predisposition to Disease | Language Development Disorders - genetics | Speech Disorders - genetics | Language Development Disorders - enzymology | Phenotype | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Speech Disorders - enzymology | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Creatine | Central nervous system
Journal Article
by Flannick, Jason and Thorleifsson, Gudmar and Beer, Nicola L and Jacobs, Suzanne B R and Grarup, Niels and Burtt, Noël P and Mahajan, Anubha and Fuchsberger, Christian and Atzmon, Gil and Benediktsson, Rafn and Blangero, John and Bowden, Don W and Brandslund, Ivan and Brosnan, Julia and Burslem, Frank and Chambers, John and Cho, Yoon Shin and Christensen, Cramer and Douglas, Desirée A and Duggirala, Ravindranath and Dymek, Zachary and Farjoun, Yossi and Fennell, Timothy and Fontanillas, Pierre and Forsén, Tom and Gabriel, Stacey and Glaser, Benjamin and Gudbjartsson, Daniel F and Hanis, Craig and Hansen, Torben and Hreidarsson, Astradur B and Hveem, Kristian and Ingelsson, Erik and Isomaa, Bo and Johansson, Stefan and Jørgensen, Torben and Jørgensen, Marit Eika and Kathiresan, Sekar and Kong, Augustine and Kooner, Jaspal and Kravic, Jasmina and Laakso, Markku and Lee, Jong-Young and Lind, Lars and Lindgren, Cecilia M and Linneberg, Allan and Masson, Gisli and Meitinger, Thomas and Mohlke, Karen L and Molven, Anders and Morris, Andrew P and Potluri, Shobha and Rauramaa, Rainer and Ribel-Madsen, Rasmus and Richard, Ann-Marie and Rolph, Tim and Salomaa, Veikko and Segrè, Ayellet V and Skärstrand, Hanna and Steinthorsdottir, Valgerdur and Stringham, Heather M and Sulem, Patrick and Tai, E Shyong and Teo, Yik Ying and Teslovich, Tanya and Thorsteinsdottir, Unnur and Trimmer, Jeff K and Tuomi, Tiinamaija and Tuomilehto, Jaakko and Vaziri-Sani, Fariba and Voight, Benjamin F and Wilson, James G and Boehnke, Michael and McCarthy, Mark I and Njølstad, Pål R and Pedersen, Oluf and Groop, Leif and Cox, David R and Stefansson, Kari and Altshuler, David and Go-T2D Consortium and T2D-GENES Consortium and T2D-Genes Consortium
Nature genetics, ISSN 1546-1718, 2014, Volume 46, Issue 4, pp. 357 - 363
Journal Article
Methods (San Diego, Calif.), ISSN 1046-2023, 2017, Volume 115, pp. 80 - 90
[Display omitted] •TrackMate is a software tool for automated, and semi-automated particle tracking.•TrackMate’s major development focus is on usability and... 
Phototoxicity | Open-source software | Image analysis | Single-particle tracking | Microscopy | Clathin-mediated endocytosis | SYSTEM | CLATHRIN-MEDIATED ENDOCYTOSIS | TPLATE | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | TRANSPORT | DYNAMICS | ARABIDOPSIS | CELL | EMBRYOGENESIS | Image Processing, Computer-Assisted - statistics & numerical data | Plant Cells - metabolism | Adaptor Proteins, Vesicular Transport - genetics | Cell Tracking - methods | Embryo, Nonmammalian - metabolism | Arabidopsis - ultrastructure | Clathrin - genetics | Adaptor Proteins, Vesicular Transport - metabolism | Fibroblasts - ultrastructure | Cell Tracking - statistics & numerical data | Clathrin - metabolism | Arabidopsis - metabolism | Caenorhabditis elegans | Endocytosis | Algorithms | Animals | Light Signal Transduction | Single-Cell Analysis - statistics & numerical data | Single-Cell Analysis - methods | Embryo, Nonmammalian - ultrastructure | Plant Cells - ultrastructure | Gene Expression Regulation, Plant | Software | Fibroblasts - metabolism | Single-Cell Analysis/methods | Arabidopsis/metabolism | Embryo, Nonmammalian/ultrastructure | Cellular Biology | Life Sciences | Clathrin/genetics | Fibroblasts/metabolism | Cell Tracking/methods | Plant Cells/metabolism | Cell Tracking/statistics & numerical data | Arabidopsis/ultrastructure | Image Processing, Computer-Assisted/statistics & numerical data | Embryo, Nonmammalian/metabolism | Adaptor Proteins, Vesicular Transport/genetics | Clathrin/metabolism | Plant Cells/ultrastructure | Single-Cell Analysis/statistics & numerical data | Fibroblasts/ultrastructure | Adaptor Proteins, Vesicular Transport/metabolism
Journal Article