{"id":"W4398193136","doi":"10.1093/hmg/ddae085","title":"PSMC5 insufficiency and P320R mutation impair proteasome function","year":2024,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Institute of Genetics; Children's Hospital of Eastern Ontario","funders":"National Institutes of Health; UK Dementia Research Institute; National Institute for Health and Care Research; Alzheimer's Society; Rosetrees Trust; Department of Health and Social Care; NIHR Cambridge Biomedical Research Centre; Wellcome Trust; National Institute of General Medical Sciences; Medical Research Council; Cure Alzheimer's Fund","keywords":"Proteasome; Nonsense mutation; Mutation; Ubiquitin; Biology; Nonsense-mediated decay; Genetics; Function (biology); Nonsense; Cell biology; Gene; Missense mutation; RNA","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":[0.0002250817,0.0005763681,0.0002595155,0.0005248329,0.0002861987,0.0001793321,0.0001841092,0.0004552834,0.001910987],"category_scores_gemma":[0.0004418521,0.0001102577,0.0002639229,0.0001995614,0.0003566675,0.0001797369,0.0003968433,0.0002657892,0.0002359027],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001936566,"about_ca_system_score_gemma":0.0001605421,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008575537,"about_ca_topic_score_gemma":0.0008225416,"domain_scores_codex":[0.9997836,0.00003024429,0.00003280382,0.00005056345,0.00006284291,0.00004004005],"domain_scores_gemma":[0.9998018,0.00005291909,0.00006362263,0.00001729623,0.0000130915,0.00005118471],"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":[0.0004245637,0.00004365301,0.03474957,0.00007154435,0.00006872942,0.01741318,0.0002868219,0.0001545875,0.9391584,0.0006553187,0.0001339051,0.006839742],"study_design_scores_gemma":[0.0000477836,0.0006619614,0.2909499,0.0000338114,0.000139428,0.08594393,0.0003817327,0.001472818,0.6143066,0.0008838648,0.00514574,0.00003229397],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980159,0.0005739038,0.0007177562,0.00003043224,0.000008236457,0.000004648905,0.0000945095,0.00002079985,0.0005338423],"genre_scores_gemma":[0.9992672,0.0001161507,0.0003288309,0.0000106952,0.000003385703,0.000002219494,0.00005899803,0.000003792209,0.000208774],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001910987,"threshold_uncertainty_score":0.006392896,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01095225095476159,"score_gpt":0.2581909593398742,"score_spread":0.2472387083851126,"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."}}