{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001251438,0.0007275784,0.0002908006,0.0002637071,0.0001674004,0.0001788521,0.0001379433,0.0003957377,0.0006372562],"category_scores_gemma":[0.0001833391,0.0002275624,0.0002761316,0.0001403774,0.0002503856,0.00009048035,0.0002191389,0.0002477019,0.000436855],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001629715,"about_ca_system_score_gemma":0.0001193573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004399495,"about_ca_topic_score_gemma":0.0006090765,"domain_scores_codex":[0.9998735,0.00002905577,0.00002220258,0.00003081235,0.00002518758,0.00001929969],"domain_scores_gemma":[0.9998564,0.00002111779,0.00005656594,0.00001427713,0.000007715521,0.00004381265],"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":[0.0001161917,0.00001523915,0.0008057863,0.00001566527,0.000008486356,0.001048901,0.00001090283,0.00004867844,0.9970886,0.00003943401,0.00002038498,0.0007818288],"study_design_scores_gemma":[0.0001295639,0.00155424,0.04851304,0.00002123996,0.00008218917,0.02618378,0.00008773908,0.003412275,0.916058,0.0002051359,0.003730184,0.00002257098],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985042,0.0003209068,0.0007030903,0.00003733635,0.0000120219,0.00001009665,0.0001158624,0.0000446645,0.0002519054],"genre_scores_gemma":[0.9979597,0.0002624088,0.0009141479,0.00002360835,0.00001009097,0.00001533761,0.000218901,0.0000169038,0.0005788672],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0007275784,"threshold_uncertainty_score":0.002131879,"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."}}