{"id":"W2794585983","doi":"10.1101/277392","title":"Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration","year":2018,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke; National Health and Medical Research Council; National Institutes of Health; Medical Research Council; Ontario Brain Institute","keywords":"Lafora disease; Glycogen; Neurodegeneration; Ubiquitin ligase; Glycogen synthase; Glycogen branching enzyme; Biology; Glycogen debranching enzyme; Ubiquitin; GSK-3; GSK3B; Cell biology; Endocrinology; Biochemistry; Internal medicine; Enzyme; Phosphorylation; Phosphatase; Medicine; Disease; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009134405,0.0005643629,0.0002342479,0.0005160309,0.0001495334,0.0002502595,0.0002169088,0.0003639554,0.002372195],"category_scores_gemma":[0.0001006185,0.0001814596,0.0002034285,0.0002031837,0.0003647039,0.00016001,0.0003324753,0.0005531707,0.0006962901],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003533377,"about_ca_system_score_gemma":0.0002141387,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007183747,"about_ca_topic_score_gemma":0.00099735,"domain_scores_codex":[0.9998904,0.0000125516,0.00001689089,0.00003555175,0.00002318454,0.00002129565],"domain_scores_gemma":[0.9998788,0.00001149407,0.0000475768,0.00001244114,0.000008251359,0.00004155017],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001963655,0.00002364899,0.0008310422,0.00004941704,0.00001445539,0.000375918,0.00001526028,0.00008973788,0.9962965,0.0001841351,0.0001954489,0.001728153],"study_design_scores_gemma":[0.00002768892,0.00009753717,0.01349076,0.00001454328,0.00003689725,0.001932636,0.00004183767,0.001019915,0.9797359,0.0002321294,0.003363159,0.000007094488],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992952,0.001139881,0.002652907,0.0002494957,0.00003169757,0.00001101172,0.001312617,0.0002195638,0.001430671],"genre_scores_gemma":[0.9900028,0.0006873559,0.00200511,0.0000508772,0.00001022832,0.00002032255,0.001689645,0.00005367726,0.005480061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002372195,"threshold_uncertainty_score":0.007935822,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02193470289921257,"score_gpt":0.2558772019364784,"score_spread":0.2339424990372659,"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."}}