{"id":"W4206935524","doi":"10.1093/brain/awac017","title":"Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Advance Queensland; National Institute of Neurological Disorders and Stroke; Medical Research Council; National Cancer Institute; Mater Foundation; National Institutes of Health; Sigrid Juséliuksen Säätiö; National Health and Medical Research Council; University of Texas Southwestern Medical Center","keywords":"Downregulation and upregulation; Glycogen synthase; Glycogen; GSK3B; Endocrinology; Chemistry; GSK-3; Biology; Internal medicine; Medicine; Biochemistry; Phosphorylation; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001846627,0.000667904,0.0004097473,0.000732242,0.0002142296,0.0004098786,0.0004514855,0.0007317056,0.002563898],"category_scores_gemma":[0.0002304502,0.0002968586,0.00037643,0.0002528888,0.0003779666,0.0002290832,0.0002949189,0.000993804,0.001309881],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004531155,"about_ca_system_score_gemma":0.0003243721,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001297061,"about_ca_topic_score_gemma":0.001828139,"domain_scores_codex":[0.9997366,0.00002700925,0.00004197172,0.00006622446,0.00007066587,0.00005752836],"domain_scores_gemma":[0.9995437,0.00004514233,0.0001359611,0.00003797198,0.00003983367,0.0001973572],"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":[0.0001438444,0.00004706316,0.0001665321,0.0000456278,0.00001031548,0.000192234,0.00001685568,0.00015203,0.9975654,0.0001447072,0.0001441209,0.001371236],"study_design_scores_gemma":[0.0001100236,0.0005914783,0.009137619,0.00003690261,0.00005155652,0.001131328,0.00007556646,0.003038723,0.9792149,0.0001737675,0.006413511,0.00002451188],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896372,0.001668402,0.003195805,0.0003200262,0.0001094979,0.00005267052,0.0023155,0.0007208316,0.001980156],"genre_scores_gemma":[0.9853333,0.001006885,0.002022875,0.0001011763,0.00001981566,0.00007136283,0.002072224,0.0002073724,0.009164978],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002563898,"threshold_uncertainty_score":0.008577108,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01338975291166097,"score_gpt":0.2591640881542988,"score_spread":0.2457743352426378,"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."}}