{"id":"W2895793011","doi":"10.1016/j.neuron.2018.09.044","title":"ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS","year":2018,"lang":"en","type":"article","venue":"Neuron","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":242,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Medical Research Council; National Institute for Health and Care Research; Alzheimer Society; King’s College London; Wellcome Trust; South London and Maudsley NHS Foundation Trust; Ludwig Institute for Cancer Research; Muscular Dystrophy Association","keywords":"Stress granule; Biology; Mutant; Cell biology; Frontotemporal dementia; Axoplasmic transport; Mutation; Neurodegeneration; Neuroscience; Gene knockin; Translation (biology); Messenger RNA; Genetics; Gene; Medicine; Internal medicine; Disease; Dementia","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001233711,0.0001128345,0.0002428199,0.0001407493,0.00003559993,0.00001217034,0.00006957524,0.00006593925,0.0002998663],"category_scores_gemma":[0.0004846597,0.00009330577,0.00003793463,0.0001655449,0.0003549971,0.0001330398,0.00005390075,0.000145229,0.00001327965],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002799784,"about_ca_system_score_gemma":0.00005977694,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001184485,"about_ca_topic_score_gemma":0.00001831614,"domain_scores_codex":[0.9987856,0.0001318241,0.0002692297,0.0002603822,0.0003651547,0.0001878215],"domain_scores_gemma":[0.9993461,0.00008257572,0.00009746921,0.0002117175,0.000128443,0.0001337065],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.004872066,0.0003856309,0.06516947,0.0005861925,0.0000398365,0.0000574182,0.0004519621,0.0000121565,0.9088739,0.0003117384,0.00006641774,0.01917321],"study_design_scores_gemma":[0.001009799,0.0009866494,0.9651793,0.0003198421,0.00005669452,0.000006034996,0.00003314118,0.001174427,0.03072461,0.000239285,0.0001868971,0.00008331756],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982588,0.00004986981,0.00002049339,0.0008267019,0.00004825024,0.0005815047,0.000009867663,0.0000241474,0.0001803359],"genre_scores_gemma":[0.999434,0.00004382886,0.0002304897,0.00005429715,0.0001100671,0.00003294777,0.000006309279,0.0000255447,0.0000625082],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9000098,"threshold_uncertainty_score":0.3804899,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02331405107343513,"score_gpt":0.2815703409109873,"score_spread":0.2582562898375521,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}