{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001644553,0.0007519987,0.0003362145,0.0005679365,0.0002865608,0.0003545577,0.0002530232,0.0006558169,0.001765284],"category_scores_gemma":[0.000501652,0.0001619304,0.0002080449,0.0004774454,0.0004635551,0.0001462516,0.0004255571,0.0005013869,0.0004351261],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003179686,"about_ca_system_score_gemma":0.0001472178,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001014365,"about_ca_topic_score_gemma":0.0007910806,"domain_scores_codex":[0.9997513,0.00003489259,0.00003148684,0.00007820375,0.00007007345,0.00003412682],"domain_scores_gemma":[0.9997101,0.00005138827,0.0001130896,0.00002122744,0.00003053575,0.00007363572],"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":[0.001393882,0.0001236667,0.08090567,0.0001084138,0.00009408591,0.01418302,0.0002667284,0.000303394,0.8932334,0.0002147032,0.0005398776,0.008633252],"study_design_scores_gemma":[0.0001735604,0.001043339,0.6541673,0.00005963876,0.0001615255,0.1148827,0.0003191128,0.00297567,0.2212135,0.0003720295,0.004587111,0.00004450261],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985554,0.0002484521,0.0002980453,0.00005482474,0.000007117413,0.000009562412,0.0002252574,0.00003237348,0.0005689493],"genre_scores_gemma":[0.9987425,0.0001225579,0.0003643318,0.00004213904,0.000007333269,0.00000613768,0.0003950483,0.00001286322,0.0003071028],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001765284,"threshold_uncertainty_score":0.005905449,"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."}}