{"id":"W4288447650","doi":"10.1172/jci161908","title":"SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins","year":2022,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Stiftung für die Erforschung der Muskelkrankheiten; National Science Foundation","keywords":"Sphingolipid; Biology; Serine; Phenotype; HEK 293 cells; Transmembrane protein; Protein subunit; Cell biology; Genetics; Molecular biology; Gene; Phosphorylation; Receptor","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002903391,0.0001912269,0.0006600307,0.000141049,0.0002474653,0.00005819059,0.0002142811,0.0001212068,0.0001965113],"category_scores_gemma":[0.008132653,0.0001257228,0.000164904,0.0007195349,0.0002560931,0.0005903876,0.0000777873,0.001885635,0.00000457443],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003104576,"about_ca_system_score_gemma":0.001125417,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000866929,"about_ca_topic_score_gemma":0.0000597972,"domain_scores_codex":[0.9958521,0.0007934981,0.001226421,0.0003137831,0.001531937,0.0002822622],"domain_scores_gemma":[0.996261,0.0005904872,0.001725807,0.0002604218,0.0008680511,0.0002942421],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.03064091,0.006864059,0.8991266,0.0004025869,0.00307526,0.002032369,0.00526311,0.003795027,0.02051105,0.0003186848,0.01735571,0.01061461],"study_design_scores_gemma":[0.01078147,0.01847919,0.9575353,0.0009971918,0.0004991169,0.0007863155,0.0008471246,0.002140269,0.002879265,0.002226283,0.002460347,0.0003681455],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913213,0.00009026763,0.0004724655,0.006526762,0.0003056447,0.0008494102,0.000008633067,0.00003859033,0.0003869033],"genre_scores_gemma":[0.9960504,0.00001246024,0.002079602,0.0008412419,0.0005910721,0.00003608028,0.0000538405,0.00004088696,0.0002944517],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05840866,"threshold_uncertainty_score":0.9736133,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09747993868324506,"score_gpt":0.3938265052509983,"score_spread":0.2963465665677532,"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."}}