{"id":"W4307407876","doi":"10.1172/jci.insight.160308","title":"Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease","year":2022,"lang":"en","type":"article","venue":"JCI Insight","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute on Aging; NIH Clinical Center; National Institutes of Health; College of Pharmacy, University of Michigan; University of Pennsylvania; Medical School, University of Michigan; University of Michigan","keywords":"NPC1; Niemann–Pick disease, type C; Niemann–Pick disease; Disease; Medicine; Computational biology; Biology; Chemistry; Bioinformatics; Internal medicine; Endosome","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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0005273584,0.0002113968,0.0003704257,0.0004482066,0.000143736,0.00004670521,0.0003116965,0.00006048187,0.002087998],"category_scores_gemma":[0.0002610596,0.0001864431,0.00008675579,0.001362094,0.0001017801,0.0001075604,0.0001999765,0.0007411293,0.00007868047],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000809949,"about_ca_system_score_gemma":0.0003894041,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001011582,"about_ca_topic_score_gemma":0.0001044371,"domain_scores_codex":[0.9970705,0.0006167295,0.0003642483,0.000489213,0.0009665344,0.0004927624],"domain_scores_gemma":[0.9990654,0.0001792828,0.00006846857,0.0004576708,0.00005305119,0.0001761241],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.09677926,0.007648249,0.7225891,0.0004912563,0.0001605404,0.01298407,0.02290154,0.0003423745,0.1140904,0.004409475,0.002713881,0.0148898],"study_design_scores_gemma":[0.002769413,0.0009348383,0.9368347,0.0001161844,0.000009944169,0.00001202684,0.001682142,0.0005861054,0.0003428691,0.0003061021,0.05612404,0.0002816709],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892665,0.004130358,0.000007283136,0.003060748,0.0001463966,0.001208312,0.00001239703,0.0000580598,0.002109976],"genre_scores_gemma":[0.9932348,0.0001004904,0.00002070119,0.0002399405,0.00007182269,0.0002346013,0.00002057625,0.00004235971,0.00603471],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2142455,"threshold_uncertainty_score":0.9988242,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06227101439815947,"score_gpt":0.2907739894801427,"score_spread":0.2285029750819833,"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."}}