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Journal of neurochemistry, ISSN 0022-3042, 11/2009, Volume 111, Issue 4, pp. 1062 - 1073
sequestosome 1/p62 | mutant superoxide dismutase 1 | autophagy | familial amyotrophic lateral sclerosis | Familial amyotrophic lateral sclerosis | Sequestosome 1/p62 | Autophagy | Mutant superoxide dismutase 1 | Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Cerebrospinal fluid. Meninges. Spinal cord | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Nervous system (semeiology, syndromes) | Superoxide Dismutase - genetics | Immunoprecipitation | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Microtubule-Associated Proteins - metabolism | Sequestosome-1 Protein | Humans | Ubiquitin - metabolism | Heat-Shock Proteins - genetics | Transfection | Spinal Cord - cytology | Superoxide Dismutase - metabolism | Heat-Shock Proteins - metabolism | Mice, Inbred C57BL | Cells, Cultured | Ubiquitin - genetics | Mutation - genetics | Motor Neurons - metabolism | Superoxide Dismutase - chemistry | Animals | Adaptor Proteins, Signal Transducing - genetics | Protein Binding | Mice | Adaptor Proteins, Signal Transducing - metabolism | Protein Structure, Tertiary - physiology | Proteins | Superoxide dismutase | Amyotrophic lateral sclerosis | Genetic aspects | Superoxide | Biochemistry | Neurological disorders | Index Medicus | mutant SOD1 | familial ALS | Sequestosome 1 | p62
Journal Article
Biochimica et biophysica acta. Molecular basis of disease, ISSN 0925-4439, 04/2015, Volume 1852, Issue 4, pp. 679 - 684
Familial ALS | Pathogenesis | Sporadic ALS | Paradigm shift | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | RNA-Binding Proteins - genetics | Superoxide Dismutase - genetics | Ubiquitins - genetics | Epigenesis, Genetic | Humans | Adaptor Proteins, Vesicular Transport - genetics | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - pathology | Adaptor Proteins, Vesicular Transport - metabolism | Motor Neurons - pathology | DNA-Binding Proteins - metabolism | Cell Cycle Proteins - genetics | C9orf72 Protein | Genetic Diseases, Inborn - metabolism | Ubiquitins - metabolism | Superoxide Dismutase - metabolism | Cell Survival | Amyotrophic Lateral Sclerosis - genetics | Cell Cycle Proteins - metabolism | RNA-Binding Protein FUS - genetics | RNA-Binding Protein FUS - metabolism | DNA-Binding Proteins - genetics | Motor Neurons - metabolism | Proteins - genetics | Amyotrophic Lateral Sclerosis - pathology | Animals | Proteins - metabolism | Amyotrophic Lateral Sclerosis - metabolism | Mice | Superoxide Dismutase-1 | RNA-Binding Proteins - metabolism | Epigenetic inheritance | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Proteolysis | Analysis
Journal Article
Neurobiology of aging, ISSN 0197-4580, 2011, Volume 32, Issue 3, pp. 553.e13 - 553.e21
Neurology | Internal Medicine | FIG4 | FUS | VAPB | TDP-43 | CHMP2B | Amyotrophic lateral sclerosis | Familial amyotrophic lateral sclerosis | ANG | SOD1 | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Superoxide Dismutase - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | RNA-Binding Protein FUS - genetics | Male | Taiwan - ethnology | DNA Mutational Analysis - methods | DNA-Binding Proteins - genetics | Mutation - genetics | Animals | Pedigree | Taiwan - epidemiology | Adult | Female | Superoxide Dismutase-1 | Cohort Studies | Evolution, Molecular | Analysis | Genetic aspects | Index Medicus
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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
Neurobiology of aging, ISSN 0197-4580, 11/2018, Volume 71, pp. 266.e1 - 266.e10
ALS | Familial ALS | TBK1 | WES | FTD | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Protein Structure, Tertiary | Phosphorylation | Genetic Association Studies | Exons | Amyotrophic Lateral Sclerosis - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Transcription Factor TFIIIA - genetics | Male | Codon, Nonsense | Mutation, Missense | Interferon Regulatory Factor-3 - genetics | Protein Binding | Female | Protein-Serine-Threonine Kinases - chemistry | Medicine, Experimental | Medical research | Genetic aspects | Analysis | Genomics | Medical genetics | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 09/2010, Volume 19, Issue 17, pp. 3440 - 3456
MOTOR-NEURONS | CHAPERONE ACTIVITY | ANDROGEN RECEPTOR | MUTANT MICE | MARIE-TOOTH-DISEASE | POLYGLUTAMINE TRACT | 5-ALPHA-REDUCTASE TYPE-2 | SPINAL-CORD | MUTATIONS | UMCG Approved | FAMILIAL ALS | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Superoxide Dismutase - genetics | Amyotrophic Lateral Sclerosis - physiopathology | Humans | HSP20 Heat-Shock Proteins - genetics | Male | Autophagy | HSP20 Heat-Shock Proteins - metabolism | DNA-Binding Proteins - metabolism | Heat-Shock Proteins - genetics | Muscle Proteins - metabolism | Female | Protein-Serine-Threonine Kinases - metabolism | Superoxide Dismutase - metabolism | Cell Line | Amyotrophic Lateral Sclerosis - genetics | Heat-Shock Proteins - metabolism | Mice, Inbred C57BL | Protein-Serine-Threonine Kinases - genetics | Mice, Transgenic | DNA-Binding Proteins - genetics | Protein Folding | Motor Neurons - metabolism | Muscle Proteins - genetics | Superoxide Dismutase - chemistry | Animals | Amyotrophic Lateral Sclerosis - metabolism | Mice | Superoxide Dismutase-1 | Index Medicus
Journal Article
Neurobiology of disease, ISSN 0969-9961, 03/2020, Volume 136, pp. 104702 - 104702
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European journal of human genetics : EJHG, ISSN 1018-4813, 2014, Volume 22, Issue 4, pp. 492 - 496
Familial ALS | Amyotrophic lateral sclerosis | p62 | Sequestosome-1(SQSTM1) | Paget's disease of bone | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Haplotypes | Exons | Sequestosome-1 Protein | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Databases, Genetic | Male | United Kingdom | Sequence Analysis, DNA | Osteitis Deformans - genetics | Genetic Variation | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Female | Heterozygote | Aged | Mutation | Cohort Studies | Paget's disease | Pathogenicity | Proteins | Homeostasis | Coexistence | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus | paget's disease of bone | sequestosome-1(SQSTM1) | familial ALS | amyotrophic lateral sclerosis
Journal Article
Neurobiology of disease, ISSN 0969-9961, 2007, Volume 26, Issue 1, pp. 1 - 13
Neurology | SOD1 mouse | Familial ALS | G93A | Animal model | Treatment trials | Motor neuron disease | Systematic review | Amyotrophic lateral sclerosis | Mouse model | Meta-analysis | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Superoxide Dismutase - genetics | Animals | Amyotrophic Lateral Sclerosis - genetics | Humans | Survival Analysis | Publication Bias | Mice | Sex Characteristics | Superoxide Dismutase-1 | Research Design | Amyotrophic Lateral Sclerosis - drug therapy | Disease Models, Animal | Clinical trials | Analysis | Porphyrins | Index Medicus
Journal Article
Neurobiology of aging, ISSN 0197-4580, 2012, Volume 33, Issue 5, pp. 1017.e17 - 1017.e23
Neurology | Internal Medicine | Sporadic | FUS | Familial | Amyotrophic lateral sclerosis | Korean | Mutation | SOD1 | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Genetic Predisposition to Disease - genetics | Superoxide Dismutase - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Ribonuclease, Pancreatic - genetics | Asian Continental Ancestry Group - genetics | Transcription Factor TFIIIA - genetics | RNA-Binding Protein FUS - genetics | Male | Amyotrophic Lateral Sclerosis - ethnology | DNA-Binding Proteins - genetics | Genetic Testing - methods | Pedigree | Aged, 80 and over | Adult | Female | Genetic Predisposition to Disease - ethnology | Aged | Superoxide Dismutase-1 | Republic of Korea - epidemiology | FUS protein | Gene frequency | Ethnic groups | Aging | FUS gene | Nervous system | Superoxide dismutase | Index Medicus
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