{"id":"W2057976500","doi":"10.1074/jbc.m503411200","title":"Dominant Negative Mechanism Underlies Autosomal Dominant Stargardt-like Macular Dystrophy Linked to Mutations in ELOVL4","year":2005,"lang":"en","type":"article","venue":"Journal of Biological Chemistry","topic":"Retinal Diseases and Treatments","field":"Medicine","cited_by":83,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Eye Institute","keywords":"Mutant; Biology; Endoplasmic reticulum; Aggresome; Wild type; Subcellular localization; ER retention; Immunoprecipitation; Mutant protein; Mutation; Cell biology; Molecular biology; Biochemistry; Gene; Cytoplasm; Ubiquitin","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":[0.00024678,0.001048845,0.0004612645,0.000678047,0.000320349,0.0003395884,0.000426952,0.0007687829,0.001357079],"category_scores_gemma":[0.0003232244,0.0002077183,0.0003889978,0.0002292976,0.0006159346,0.0002076719,0.0004847185,0.0004426725,0.0003942688],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004399222,"about_ca_system_score_gemma":0.0002869115,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007062228,"about_ca_topic_score_gemma":0.0008194384,"domain_scores_codex":[0.9996765,0.00006251269,0.00003872539,0.00007597634,0.00009348377,0.00005284438],"domain_scores_gemma":[0.999781,0.00004190651,0.00008442846,0.00001557633,0.00002178969,0.00005540947],"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":[0.0003343815,0.00004775901,0.003489602,0.00006086334,0.00002652522,0.01829931,0.00006453087,0.0001591069,0.9752527,0.0004528109,0.0001662629,0.001646092],"study_design_scores_gemma":[0.0003565062,0.000903746,0.08954517,0.00005874643,0.0002822299,0.1671749,0.0003566536,0.009228202,0.7223697,0.001529193,0.008106656,0.00008836151],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962697,0.0008163821,0.001539246,0.0001478015,0.00003499163,0.00002084071,0.0001388525,0.0001018232,0.0009302753],"genre_scores_gemma":[0.9980806,0.0002800066,0.0006596175,0.00006980974,0.00001377838,0.00001030951,0.0000871661,0.0000150276,0.0007836171],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001357079,"threshold_uncertainty_score":0.004539907,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02057707718329007,"score_gpt":0.2873375404369838,"score_spread":0.2667604632536937,"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."}}