{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001099788,0.000720563,0.0002712772,0.0005300033,0.0003170109,0.0002310017,0.0002023415,0.0004928725,0.001538606],"category_scores_gemma":[0.0003410735,0.0001376183,0.0002914073,0.000356701,0.000399507,0.0001501121,0.000278602,0.0002518218,0.0003927113],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001924791,"about_ca_system_score_gemma":0.0001920626,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001251965,"about_ca_topic_score_gemma":0.0009883563,"domain_scores_codex":[0.9998488,0.00003151532,0.00002621328,0.00003512833,0.00004119407,0.00001700158],"domain_scores_gemma":[0.9998041,0.00002892541,0.0000875339,0.00001624137,0.0000127157,0.00005058537],"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":[0.0005165567,0.00003740675,0.02001366,0.0001333886,0.0001059015,0.02322244,0.0002294247,0.0004750314,0.9461153,0.0007338132,0.0005766602,0.007840373],"study_design_scores_gemma":[0.0001465153,0.0005150822,0.2878649,0.000120606,0.0004236704,0.1583983,0.000436807,0.008328177,0.5224091,0.00214893,0.01912788,0.00007998306],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947501,0.001204822,0.002326055,0.0001657562,0.00004089592,0.0000165465,0.000453697,0.0002119103,0.000830306],"genre_scores_gemma":[0.9983107,0.0002203848,0.0007325913,0.00002943237,0.0000133194,0.000005829091,0.0002282087,0.00001658442,0.0004429129],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001538606,"threshold_uncertainty_score":0.005147159,"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."}}