{"id":"W2468250250","doi":"10.15252/emmm.201506159","title":"SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome","year":2016,"lang":"en","type":"article","venue":"EMBO Molecular Medicine","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":210,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Université de Montréal; McGill University; Montreal Heart Institute; University of Toronto; Montreal Neurological Institute and Hospital","funders":"Natural Sciences and Engineering Research Council of Canada; Genome Canada; Canadian Institutes of Health Research; Ontario Genomics; Ontario Genomics Institute; McGill University","keywords":"MFN2; mitochondrial fusion; Cell biology; Mitochondrion; DNAJA3; Biology; Mitochondrial fission; MFN1; Endoplasmic reticulum; ATP–ADP translocase; Mitochondrial carrier; Inner mitochondrial membrane; Proteostasis; Mitochondrial membrane transport protein; Mitochondrial apoptosis-induced channel; Biochemistry; Bacterial outer membrane; Mitochondrial DNA","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":[0.0002757453,0.000258754,0.000384625,0.0001040593,0.0001244799,0.00001493832,0.0001323885,0.0002612252,0.00009368271],"category_scores_gemma":[0.0008947151,0.000183309,0.0001054799,0.00008560036,0.000302582,0.000007857358,0.00007983988,0.0000572575,0.00000414262],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001437341,"about_ca_system_score_gemma":0.00007672986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001065572,"about_ca_topic_score_gemma":0.000008521827,"domain_scores_codex":[0.9983298,0.00007717795,0.0003347741,0.0007245308,0.000141147,0.000392572],"domain_scores_gemma":[0.9989243,0.0001092929,0.000120148,0.0004569897,0.0001866736,0.0002026002],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001342983,0.0000171084,0.00004159134,0.00005943618,0.00007218074,0.00001512507,0.0001084674,6.356236e-8,0.9022892,0.0008415497,0.09071953,0.004492736],"study_design_scores_gemma":[0.007087966,0.002923504,0.0001446439,0.0001276273,0.0001161424,0.0002793206,0.00008987963,0.00001464669,0.3651714,0.00202533,0.6216899,0.0003296435],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5565372,0.009865886,0.3782772,0.0478138,0.003256521,0.002691444,0.0007097404,0.00006172653,0.0007864835],"genre_scores_gemma":[0.8534007,0.006872565,0.05106394,0.04021438,0.005152702,0.001385525,0.0005786454,0.0003691332,0.04096238],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5371178,"threshold_uncertainty_score":0.7475123,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01631605247254292,"score_gpt":0.2725725613453509,"score_spread":0.256256508872808,"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."}}