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Nature, ISSN 0028-0836, 03/2013, Volume 495, Issue 7442, pp. 467 - 473
Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with... 
RNA-BINDING PROTEINS | DROSOPHILA MODEL | TDP-43 | MULTIDISCIPLINARY SCIENCES | FRONTOTEMPORAL DEMENTIA | VCP MUTATIONS | DISEASE | AMYOTROPHIC-LATERAL-SCLEROSIS | SACCHAROMYCES-CEREVISIAE | STRESS GRANULES | MULTIPLE ALIGNMENT | Prions - genetics | Humans | Molecular Sequence Data | Osteitis Deformans - metabolism | Male | Drosophila melanogaster - genetics | Osteitis Deformans - genetics | Drosophila melanogaster - metabolism | Frontotemporal Dementia - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Myositis, Inclusion Body - pathology | Female | Inclusion Bodies - metabolism | Muscular Dystrophies, Limb-Girdle - pathology | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - genetics | Frontotemporal Dementia - pathology | RNA - metabolism | Frontotemporal Dementia - genetics | Amino Acid Sequence | Prions - metabolism | Peptide Termination Factors - genetics | Amyotrophic Lateral Sclerosis - genetics | Drosophila melanogaster - cytology | Mutant Proteins - genetics | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism | Mutant Proteins - metabolism | Protein Structure, Tertiary - genetics | Prions - chemistry | Saccharomyces cerevisiae Proteins - genetics | Mutation - genetics | Myositis, Inclusion Body - genetics | Peptide Termination Factors - metabolism | Amyotrophic Lateral Sclerosis - pathology | Inclusion Bodies - genetics | Osteitis Deformans - pathology | Animals | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - chemistry | Muscular Dystrophies, Limb-Girdle - metabolism | Mutant Proteins - chemistry | Amyotrophic Lateral Sclerosis - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Inclusion Bodies - pathology | Myositis, Inclusion Body - metabolism | Mice | Peptide Termination Factors - chemistry | HeLa Cells | Saccharomyces cerevisiae Proteins - chemistry | Pathology | Insects | Genomics | Genetics | Software | Genomes | Mutation | Genetic testing | Patients
Journal Article
Journal Article
Neuron, ISSN 0896-6273, 04/2013, Volume 78, Issue 1, pp. 65 - 80
Mutations in VCP cause multisystem degeneration impacting the nervous system, muscle, and/or bone. Patients may present with ALS, Parkinsonism, frontotemporal... 
PATHOGENESIS | PARKIN | VALOSIN-CONTAINING-PROTEIN | INCLUSION-BODY MYOPATHY | DROSOPHILA MODEL | FRONTOTEMPORAL DEMENTIA | PAGETS-DISEASE | BONE | NEUROSCIENCES | P97 | DEGENERATION | Embryo, Mammalian | Humans | Ganglia, Spinal - cytology | Drosophila Proteins - metabolism | HSP72 Heat-Shock Proteins - genetics | Protein Tyrosine Phosphatases - genetics | Neurons - ultrastructure | Time Factors | Carbonyl Cyanide m-Chlorophenyl Hydrazone - pharmacology | Neuromuscular Junction - genetics | Neurons - metabolism | Protein-Serine-Threonine Kinases - metabolism | Mitochondrial Membrane Transport Proteins - metabolism | Cell Cycle Proteins - metabolism | Enzyme Inhibitors - pharmacology | Ubiquitin-Protein Ligases - metabolism | Adenosine Triphosphatases - metabolism | Mutation - genetics | Leupeptins - pharmacology | GTP Phosphohydrolases - metabolism | Luminescent Proteins - genetics | Adenosine Triphosphatases - genetics | Ubiquitin-Protein Ligases - genetics | RNA, Small Interfering - metabolism | Immunoprecipitation | Neuromuscular Junction - metabolism | Valosin Containing Protein | Mitochondria - ultrastructure | Transfection | Mitochondria - genetics | Proton Ionophores - pharmacology | Cell Cycle Proteins - genetics | Microscopy, Electron, Transmission | Animals, Genetically Modified | Gene Expression Regulation - genetics | Drosophila | RNA, Small Interfering - pharmacology | Cells, Cultured | Protein-Serine-Threonine Kinases - genetics | Nuclear Proteins - metabolism | Mitochondria - metabolism | Mitochondria - drug effects | Transcription Factors - genetics | Transcription Factors - metabolism | Animals | Proteins - metabolism | Drosophila Proteins - genetics | In Vitro Techniques | Ubiquitination - genetics | Luminescent Proteins - metabolism | Ubiquitin | Analysis | Genomics | Quality control | Amyotrophic lateral sclerosis | Genetic aspects | Mitochondrial DNA | Dementia | Neurons | Parkinsons disease | Biosynthesis | Digital cameras | Kinases | DNA repair | Proteins | Mitochondria | Brain research | Insects | Microscopy | Morphology | Mutation
Journal Article
Cell, ISSN 0092-8674, 10/2016, Volume 167, Issue 3, pp. 774 - 788.e17
Journal Article
The EMBO journal, 04/2018, Volume 37, Issue 7
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2016, Volume 25, Issue 5, pp. 936 - 950
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2016, Volume 25, Issue 5, pp. 936 - 950
Adult-onset inherited myopathies with similar pathological features, including hereditary inclusion body myopathy (hIBM) and limb-girdle muscular dystrophy... 
RNA-PROCESSING PROTEIN | PRION-LIKE DOMAINS | BIOCHEMISTRY & MOLECULAR BIOLOGY | BINDING PROTEINS | GENETICS & HEREDITY | MOLECULAR CHAPERONE | GIRDLE MUSCULAR-DYSTROPHY | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | STRESS GRANULES | AGGREGATION | MULTIPLE ALIGNMENT | RNA-Binding Proteins - genetics | Molecular Chaperones - metabolism | Humans | Myositis, Inclusion Body - congenital | Molecular Sequence Data | Contracture - genetics | Drosophila Proteins - metabolism | Drosophila melanogaster - genetics | Muscles - pathology | DNA-Binding Proteins - metabolism | Drosophila melanogaster - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Myositis, Inclusion Body - pathology | Adult | Muscles - metabolism | Muscular Dystrophies, Limb-Girdle - pathology | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - genetics | Disease Models, Animal | Amino Acid Sequence | HSP40 Heat-Shock Proteins - metabolism | HSP40 Heat-Shock Proteins - genetics | Signal Transduction | Ophthalmoplegia - pathology | Contracture - pathology | Gene Expression Regulation | Molecular Chaperones - genetics | Heterogeneous-Nuclear Ribonucleoproteins - metabolism | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism | DNA-Binding Proteins - genetics | Myositis, Inclusion Body - genetics | Nerve Tissue Proteins - genetics | Heterogeneous-Nuclear Ribonucleoproteins - genetics | Nerve Tissue Proteins - metabolism | Sequence Homology, Amino Acid | Contracture - metabolism | Contracture - congenital | Phenotype | Sequence Alignment | Animals | Muscular Dystrophies, Limb-Girdle - metabolism | Age of Onset | Protein Binding | Myositis, Inclusion Body - metabolism | Ophthalmoplegia - genetics | Drosophila Proteins - genetics | Mutation | RNA-Binding Proteins - metabolism | Ophthalmoplegia - metabolism
Journal Article
Nature, ISSN 0028-0836, 3/2013, Volume 495, Issue 7442, pp. 467 - 473
Algorithms designed to identify canonical yeast prions predict that ~250 human proteins, including several RNA-binding proteins associated with... 
Journal Article
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