{"id":"W2142098918","doi":"10.1155/2015/462592","title":"ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment","year":2015,"lang":"en","type":"article","venue":"BioMed Research International","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Medical Research Council; Bundesministerium für Bildung und Forschung; Deutsche Forschungsgemeinschaft; Wellcome Trust","keywords":"Mitochondrion; ATP synthase; Mitochondrial disease; Biology; Mitochondrial DNA; Mutation; Oxidative phosphorylation; Genetics; Leigh disease; Gene; Biochemistry","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":[0.0001295596,0.0004221924,0.0003574198,0.0002444455,0.0002287921,0.0001250528,0.0001562606,0.0005131605,0.0006456114],"category_scores_gemma":[0.0003750054,0.000135793,0.0002287903,0.0001456645,0.0003490198,0.0001231226,0.0002756757,0.0004063662,0.0001849116],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002080132,"about_ca_system_score_gemma":0.0001300954,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002663321,"about_ca_topic_score_gemma":0.0004205516,"domain_scores_codex":[0.999916,0.00001949902,0.00001336596,0.00001544454,0.00001509029,0.00002059203],"domain_scores_gemma":[0.9999045,0.00001717766,0.00003067085,0.000008186841,0.000007245307,0.00003215415],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001195189,0.0003054981,0.05159441,0.0003546587,0.0001358961,0.6016465,0.000352685,0.0004858982,0.2928666,0.0008452209,0.00106295,0.04915461],"study_design_scores_gemma":[0.0001843967,0.001892217,0.1041774,0.0000763759,0.0001190431,0.8178989,0.0001953672,0.0008936272,0.06748167,0.000560803,0.006496563,0.0000234924],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935359,0.002590854,0.001607726,0.0003193271,0.00004187074,0.00001944233,0.00004006896,0.00008540408,0.001759417],"genre_scores_gemma":[0.9985009,0.0005140089,0.0004085276,0.00006670588,0.00001340468,0.000004288676,0.00004544571,0.000007629688,0.0004389697],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0006456114,"threshold_uncertainty_score":0.002159774,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0648899643879157,"score_gpt":0.3694006229213181,"score_spread":0.3045106585334024,"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."}}