{"id":"W4319225959","doi":"10.1038/s41531-023-00459-3","title":"Parkinsonism mutations in DNAJC6 cause lipid defects and neurodegeneration that are rescued by Synj1","year":2023,"lang":"en","type":"article","venue":"npj Parkinson s Disease","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women and Children’s Health Research Institute; Canadian Institutes of Health Research","funders":"Vlaamse regering; Fonds Wetenschappelijk Onderzoek; Chan Zuckerberg Initiative","keywords":"Neurodegeneration; Biology; Lipid metabolism; Cell biology; Parkinsonism; Parkin; Vesicular transport protein; Synaptic vesicle; Mitophagy; Sphingolipid; Neuroscience; Parkinson's disease; Biochemistry; Autophagy; Disease; Vesicle; Internal medicine; Medicine","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":[0.0001374373,0.0001710508,0.0001263373,0.00009614855,0.0001161452,0.00004958191,0.00008169692,0.0001145185,0.00001384385],"category_scores_gemma":[0.00005615072,0.0001843938,0.00006919343,0.0001938811,0.00005717697,0.00001175793,0.00003257903,0.00008633105,0.00001700984],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001353956,"about_ca_system_score_gemma":0.00005030181,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002874457,"about_ca_topic_score_gemma":0.0003421723,"domain_scores_codex":[0.9988393,0.0000953489,0.000172913,0.0004690546,0.0001666655,0.0002567107],"domain_scores_gemma":[0.9994095,0.00001334998,0.0000627503,0.0002697472,0.00003033253,0.0002143389],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002129167,0.000106097,0.4389332,0.00005172636,0.00002021825,0.0001019021,0.0001024229,0.0003197025,0.5568341,0.00003017432,0.002351416,0.0009361348],"study_design_scores_gemma":[0.001242094,0.00007720941,0.7058758,0.00003631745,0.0000726244,0.000003436179,0.00009465517,0.001283907,0.05490667,0.00006986428,0.235931,0.0004064378],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972206,0.001293674,0.000512685,0.0003156242,0.0001457853,0.0002614523,0.0001459137,0.00004925766,0.00005502814],"genre_scores_gemma":[0.9905602,0.001149754,0.00001922339,0.0002408934,0.000116824,0.00008328645,0.00746017,0.00003184069,0.0003377733],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5019274,"threshold_uncertainty_score":0.7519361,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01686815732590109,"score_gpt":0.2373128073772836,"score_spread":0.2204446500513825,"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."}}