{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003406123,0.0002289092,0.0003441233,0.0002607673,0.0001961793,0.000374687,0.0001680654,0.0003128123,0.0008262643],"category_scores_gemma":[0.000328797,0.0001246019,0.0001985663,0.0001931439,0.0003111102,0.0002337557,0.0002119482,0.0005703948,0.0001983967],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004103323,"about_ca_system_score_gemma":0.0002450824,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000617186,"about_ca_topic_score_gemma":0.0007913634,"domain_scores_codex":[0.9998264,0.00004052365,0.00003352158,0.00003426103,0.0000376075,0.00002766956],"domain_scores_gemma":[0.9998819,0.00003239896,0.00003110979,0.00001607753,0.00001204992,0.00002644465],"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":[0.000333966,0.00003842142,0.0005330464,0.00001903718,0.000007168553,0.0000454019,0.00001933742,0.000175213,0.9970988,0.0001024984,0.00003687257,0.001590362],"study_design_scores_gemma":[0.00003626689,0.0005763813,0.01196687,0.00000703248,0.00003677868,0.0006699758,0.00003847116,0.001127255,0.9837045,0.0001869777,0.001636498,0.00001300593],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964182,0.001165539,0.0008619966,0.00007521321,0.00001315008,0.0000353732,0.00025452,0.00003785412,0.001138],"genre_scores_gemma":[0.9978453,0.0006173154,0.00079295,0.00005338193,0.000004130584,0.00002395088,0.0001725731,0.00001654009,0.0004737323],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008262643,"threshold_uncertainty_score":0.002977192,"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."}}