{"id":"W2096974898","doi":"10.1093/hmg/ddn265","title":"The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2","year":2008,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":148,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Biology; Leucine; Translation (biology); Mitochondrial disease; MELAS syndrome; Mutation; Mitochondrial ribosome; Molecular biology; Transfer RNA; Biochemistry; Amino acid; Mitochondrion; Genetics; Mitochondrial DNA; Mitochondrial myopathy; Gene; Messenger RNA; RNA; Ribosome","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":[],"consensus_categories":[],"category_scores_codex":[0.000189934,0.0001938638,0.000181228,0.00004385805,0.0003052263,0.00003135966,0.0001146428,0.0002134532,0.000005862391],"category_scores_gemma":[0.000108919,0.0001690657,0.00007028112,0.00005955918,0.0002293171,0.00000570375,0.00008768192,0.00009681669,0.000001192399],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006938164,"about_ca_system_score_gemma":0.00005542629,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006617993,"about_ca_topic_score_gemma":0.00003580288,"domain_scores_codex":[0.9985979,0.0003176052,0.0003409192,0.0003612878,0.0001903166,0.000192039],"domain_scores_gemma":[0.9991652,0.00003077338,0.0002283792,0.0003530697,0.0001281489,0.00009438755],"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":[0.0001578444,0.00004369148,0.002617663,0.00002089354,0.00003790759,0.00001216387,0.0001029379,0.00004658067,0.995009,0.0001505528,0.001632557,0.0001681976],"study_design_scores_gemma":[0.001318365,0.001059878,0.01189523,0.00001421349,0.00005303821,0.00004120775,0.00002607539,0.00007964844,0.9808534,0.0001809826,0.004281817,0.0001960941],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913325,0.004058647,0.00400149,0.00003739716,0.0000949469,0.0003065093,0.00002007745,0.00001157435,0.000136823],"genre_scores_gemma":[0.9984069,0.000551483,0.0003858209,0.0002401392,0.00008023978,0.00002579948,0.0001413069,0.00002877345,0.0001395435],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01415556,"threshold_uncertainty_score":0.6894301,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01627217689421056,"score_gpt":0.2476253688031194,"score_spread":0.2313531919089088,"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."}}