{"id":"W2118393368","doi":"10.1074/jbc.m807428200","title":"Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease","year":2008,"lang":"en","type":"article","venue":"Journal of Biological Chemistry","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":170,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; American Heart Association","keywords":"Lafora disease; Glycogen; Progressive myoclonus epilepsy; Glycogen synthase; Glycogen debranching enzyme; Endocrinology; Neurodegeneration; Biology; Internal medicine; Biochemistry; Phosphorylation; Chemistry; Phosphatase; Medicine; Disease; 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":[0.0002742742,0.001006741,0.0005177645,0.0008329473,0.0005753332,0.0003030329,0.0003684904,0.001260475,0.001721699],"category_scores_gemma":[0.0005514352,0.0001990785,0.000424837,0.0002333994,0.0008076702,0.0005592614,0.0005057228,0.0006246102,0.0004231643],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002796505,"about_ca_system_score_gemma":0.0001836397,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000537657,"about_ca_topic_score_gemma":0.000452698,"domain_scores_codex":[0.9998215,0.00003311386,0.00002005486,0.00005903645,0.00003279312,0.00003359897],"domain_scores_gemma":[0.9997477,0.00003781395,0.00008962311,0.00001639318,0.00002653153,0.00008184922],"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":[0.001590714,0.0002662712,0.1067465,0.0003784935,0.0001602095,0.1530325,0.0006675582,0.000453309,0.7081216,0.002243204,0.001420285,0.02491933],"study_design_scores_gemma":[0.0001441912,0.001533086,0.3461223,0.0001692921,0.0003912477,0.4619366,0.0004393956,0.004893895,0.1673867,0.002416792,0.01444294,0.000123692],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893457,0.003488072,0.003155589,0.0003471211,0.00008362408,0.00004883874,0.0002408223,0.0003098288,0.002980299],"genre_scores_gemma":[0.9967417,0.001003066,0.001139171,0.000158371,0.00004648417,0.00001752722,0.0002509399,0.00002587821,0.0006168719],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001721699,"threshold_uncertainty_score":0.005759716,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03472308350102896,"score_gpt":0.2849491677775892,"score_spread":0.2502260842765602,"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."}}