{"id":"W4403588268","doi":"10.1073/pnas.2415755121","title":"Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders","year":2024,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Lipid Membrane Structure and Behavior","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital; University Health Network","funders":"H2020 Marie Skłodowska-Curie Actions; University of Tsukuba; Fonds Wetenschappelijk Onderzoek; Japan Society for the Promotion of Science; Ministry of Education, Culture, Sports, Science and Technology; Vlaamse regering; European Commission; Muscular Dystrophy Association","keywords":"Sphingomyelin; Phosphatidylethanolamine; Phosphatidylserine; Phosphatidylcholine; Biology; Phospholipid; Cell biology; Point mutation; Mutant; Mutation; Sphingolipid; Biochemistry; Gene; Membrane","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":[0.00009076076,0.0005064896,0.0002543513,0.0001578537,0.0001681239,0.0003424191,0.0002212651,0.0005108419,0.0008100044],"category_scores_gemma":[0.0002571898,0.0001669905,0.000265865,0.000174449,0.0002226237,0.0001618622,0.0002364467,0.0002703031,0.0004672027],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002548283,"about_ca_system_score_gemma":0.0001847284,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009973214,"about_ca_topic_score_gemma":0.000881355,"domain_scores_codex":[0.9999034,0.00001629333,0.00001368233,0.00002811047,0.00002504516,0.00001340784],"domain_scores_gemma":[0.9999408,0.00001345609,0.00002284271,0.000005001357,0.000006786367,0.00001106622],"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":[0.0005105006,0.00006092731,0.01008502,0.00007978441,0.00004601592,0.005213922,0.00008560712,0.003787642,0.9703752,0.0009555247,0.0002388249,0.008561018],"study_design_scores_gemma":[0.0002507905,0.0004885499,0.05776634,0.00005458147,0.0001405755,0.01771374,0.0002310593,0.04403991,0.8680704,0.002133623,0.009023382,0.00008705955],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966704,0.0003938705,0.002066626,0.00005110485,0.00001623049,0.00001217964,0.0001112793,0.00004805281,0.0006301727],"genre_scores_gemma":[0.9984737,0.0001294885,0.001038794,0.00001556501,0.00000262388,0.000006585433,0.00008438145,0.0000105903,0.0002383367],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009973214,"threshold_uncertainty_score":0.002709687,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01918970042368988,"score_gpt":0.296560004844298,"score_spread":0.2773703044206081,"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."}}