{"id":"W4317829600","doi":"10.1007/s12035-023-03219-9","title":"A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function","year":2023,"lang":"en","type":"article","venue":"Molecular Neurobiology","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Heart, Lung, and Blood Institute; European Regional Development Fund; AFM-Téléthon; National Human Genome Research Institute; Bundesministerium für Bildung und Forschung; Universitätsklinikum Essen; National Eye Institute; Ministerium für Kultur und Wissenschaft des Landes Nordrhein-Westfalen; French Muscular Dystrophy Association; Broad Institute; Muscular Dystrophy Association","keywords":"Biology; Phenotype; Cell biology; Proteasome; Proteostasis; Mutant protein; Genetics; Neuroscience; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002142069,0.0002573924,0.0002676327,0.0001214063,0.00009735476,0.00001329018,0.0001942832,0.0002405411,0.00001654134],"category_scores_gemma":[0.0001773548,0.0002381025,0.00005275603,0.0004898579,0.0001182528,0.000006811695,0.0002571245,0.0001569325,0.00002393888],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002019267,"about_ca_system_score_gemma":0.0001177777,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002957284,"about_ca_topic_score_gemma":0.00004337461,"domain_scores_codex":[0.9983953,0.0001986741,0.0002427631,0.0006161421,0.0001250234,0.0004220737],"domain_scores_gemma":[0.9993225,0.00002940714,0.0001281227,0.0002686967,0.0001277393,0.0001235153],"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":[0.0002669955,0.00005613311,0.000709837,0.00002697395,0.00007889569,0.0002825047,0.00006459884,0.0001315815,0.996361,0.00003340884,0.0001752784,0.001812748],"study_design_scores_gemma":[0.001196261,0.001988686,0.01866441,0.00006842279,0.0000362834,0.001200866,0.00007829363,0.00004302196,0.9727534,0.00006922511,0.003402326,0.0004987736],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975029,0.00004097942,0.0009355887,0.0001236468,0.00009125892,0.0007046165,0.00006481622,0.0000656068,0.0004706409],"genre_scores_gemma":[0.9983341,0.00002342295,0.0004883903,0.000450686,0.00003393284,0.0001095671,0.0002670795,0.00004790692,0.0002449786],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02360761,"threshold_uncertainty_score":0.9709536,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01033222538162169,"score_gpt":0.2151375014911103,"score_spread":0.2048052761094886,"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."}}