{"id":"W7844153","doi":"10.21775/cimb.003.057","title":"Degradation of Mutant Proteins, Underlying \"Loss of Function\" Phenotypes, Plays a Major Role in Genetic Disease","year":2001,"lang":"en","type":"review","venue":"Current Issues in Molecular Biology","topic":"Endoplasmic Reticulum Stress and Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; McGill University","funders":"","keywords":"Protein folding; Proteases; Mutant; Phenotype; Protein degradation; Protein aggregation; Cell biology; Biology; Mutation; Mutant protein; Folding (DSP implementation); Biophysics; Function (biology); Chemistry; Biochemistry; Enzyme; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001538513,0.0004481816,0.001065443,0.000318575,0.00002176147,0.000008651239,0.0003843805,0.0003695246,0.00002508025],"category_scores_gemma":[0.0001980017,0.0004077331,0.0003564218,0.0003687603,0.0002073456,0.000004029699,0.0001986411,0.0002400522,0.00000413833],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000454928,"about_ca_system_score_gemma":0.0003347145,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008184135,"about_ca_topic_score_gemma":0.00004328534,"domain_scores_codex":[0.9973316,0.0004207734,0.0009954512,0.0007190625,0.0001532256,0.0003798474],"domain_scores_gemma":[0.9986105,0.00002572164,0.0005162982,0.0006401853,0.00007922822,0.0001280791],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005205208,0.001648875,0.01172038,0.02324903,0.0004094784,0.0001637371,0.00005283922,0.000248253,0.01715081,0.003353408,0.00004581783,0.9414368],"study_design_scores_gemma":[0.004072182,0.001309623,0.001308929,0.02015116,0.001835895,0.00005427144,0.000107682,0.0001922466,0.005760986,0.005842601,0.9569385,0.00242593],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02534772,0.9702401,0.002859792,0.000007965131,0.0002112365,0.001062509,0.0002090868,0.000006910062,0.00005464263],"genre_scores_gemma":[0.03263666,0.9645795,0.0004356968,0.000008256132,0.00006895867,0.0002946527,0.001902197,0.00005042858,0.00002369719],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9568927,"threshold_uncertainty_score":0.9998375,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02626053572617579,"score_gpt":0.341216731479319,"score_spread":0.3149561957531433,"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."}}