{"id":"W4378802689","doi":"10.1126/scitranslmed.abo3189","title":"PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production","year":2023,"lang":"en","type":"article","venue":"Science Translational Medicine","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Women and Children’s Health Research Institute; University of Ottawa; University of Alberta; Université Laval; McGill University Health Centre","funders":"National Institute of Mental Health; Fundamental Research Funds for the Central Universities; Canadian Institutes of Health Research; Deutsche Forschungsgemeinschaft; Genome British Columbia; Ontario Genomics Institute; Genome Alberta; Simons Foundation Autism Research Initiative; Austrian Science Fund; Wellcome Trust; Agence Nationale de la Recherche; E-Rare; Genome Canada; National Institutes of Health; Ontario Genomics","keywords":"Proteasome; Biology; Protein subunit; Cell biology; Proteostasis; Interferon; Protein degradation; Unfolded protein response; Transcriptome; ISG15; HEK 293 cells; Genetics; Gene; Ubiquitin; Gene expression","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":[0.0005658235,0.00009569321,0.00008423209,0.000107416,0.0001803799,0.00001242027,0.0001096551,0.00003398558,0.00002582592],"category_scores_gemma":[0.0002750274,0.00007181111,0.000007612788,0.0006849294,0.0004453671,0.00001587062,0.00002310227,0.00007492086,0.000007246401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009772824,"about_ca_system_score_gemma":0.0001529309,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005789454,"about_ca_topic_score_gemma":0.00003312431,"domain_scores_codex":[0.998994,0.00003065468,0.0001167295,0.0003375456,0.0003296237,0.0001914713],"domain_scores_gemma":[0.9995938,0.00001154123,0.0000529771,0.0001003285,0.0001613801,0.00007998153],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002026622,0.00003286083,0.03878871,0.0000201865,0.00002119686,0.000007800197,0.0005661261,0.00006669218,0.9572695,0.0001244613,0.0003322377,0.002567584],"study_design_scores_gemma":[0.001012685,0.001016777,0.9245126,0.0002173012,0.0000186872,0.00006085831,0.0002415681,0.0004627549,0.0707736,0.000379582,0.001058485,0.0002450649],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966438,0.00007448325,0.000116147,0.002181068,0.0001919806,0.0002831369,0.000008063701,0.00003024508,0.0004711068],"genre_scores_gemma":[0.9989592,0.00002712583,0.000165556,0.0001212054,0.0001157475,0.00001819829,0.0001099397,0.000009199142,0.0004737619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8864959,"threshold_uncertainty_score":0.2928372,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02952692522648516,"score_gpt":0.2686805340544898,"score_spread":0.2391536088280046,"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."}}