{"id":"W2014121269","doi":"10.1074/jbc.m115.655043","title":"A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling","year":2015,"lang":"en","type":"article","venue":"Journal of Biological Chemistry","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"National Institutes of Health; National Institute of Diabetes and Digestive and Kidney Diseases; National Ataxia Foundation","keywords":"Ubiquitin ligase; Ubiquitin; Endoplasmic reticulum; Receptor; Biology; Cell biology; Neurodegeneration; Signal transduction; Point mutation; Inositol trisphosphate receptor; Mutant; Inositol; Biochemistry; Internal medicine; Gene","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":[0.0001394957,0.0008751658,0.000293921,0.0003711594,0.0001710585,0.0001693239,0.0002613809,0.0006178737,0.001327993],"category_scores_gemma":[0.0001580619,0.0001839678,0.000555156,0.0001744696,0.0004615394,0.0001130207,0.0002709313,0.0003642687,0.0007075028],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003575301,"about_ca_system_score_gemma":0.0002461772,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009294691,"about_ca_topic_score_gemma":0.001193096,"domain_scores_codex":[0.9998828,0.00001733914,0.00001875207,0.00002637617,0.00003634084,0.00001832618],"domain_scores_gemma":[0.9998118,0.00003718329,0.00006876672,0.00001372545,0.00001081014,0.00005761615],"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":[0.0001026403,0.0000263759,0.0002888119,0.00003408966,0.00001578985,0.0007296403,0.00001495996,0.0001110011,0.9970316,0.0001767027,0.00007428086,0.001394036],"study_design_scores_gemma":[0.00006019515,0.0003908892,0.008875061,0.00001662329,0.00004709283,0.00613472,0.00004262182,0.002439696,0.9762573,0.0001421991,0.005569119,0.00002440661],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920705,0.0004919056,0.004918149,0.00009534389,0.00007985189,0.00004727902,0.0008905761,0.0002062746,0.001199992],"genre_scores_gemma":[0.9939696,0.0002654491,0.003252617,0.00006080337,0.0000126915,0.00002980273,0.0006680338,0.00004135207,0.001699795],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001327993,"threshold_uncertainty_score":0.004442573,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03356361788060836,"score_gpt":0.2585580189415205,"score_spread":0.2249944010609121,"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."}}