{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000160308,0.001027426,0.0004089912,0.0005543501,0.0003530239,0.0002608203,0.0002723848,0.0007248693,0.001512786],"category_scores_gemma":[0.0005183166,0.0002500892,0.0003339543,0.0003623416,0.0005700907,0.0001437194,0.0003991326,0.0004269372,0.0004288063],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002600503,"about_ca_system_score_gemma":0.0002521067,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001205589,"about_ca_topic_score_gemma":0.001622242,"domain_scores_codex":[0.9997763,0.00002603901,0.00003352348,0.0000810487,0.00004505635,0.00003805572],"domain_scores_gemma":[0.9997723,0.00005314445,0.0000734938,0.00002333392,0.0000134143,0.0000642677],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006809948,0.0001086907,0.02206291,0.0001181012,0.00009078017,0.5988017,0.0003139976,0.0003650728,0.3699059,0.0007727121,0.0005733392,0.006205812],"study_design_scores_gemma":[0.00007691349,0.0008613865,0.1407436,0.00002969875,0.0001140493,0.8001691,0.0001940841,0.001121461,0.0529047,0.00047127,0.003270062,0.00004365497],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956465,0.0004803979,0.002155073,0.0001058339,0.0000385631,0.00003385352,0.0004427815,0.00007512415,0.001021835],"genre_scores_gemma":[0.9977841,0.0002819234,0.0007665597,0.00003857365,0.00002133512,0.000009414876,0.0002952755,0.00001415245,0.0007887724],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001512786,"threshold_uncertainty_score":0.005060792,"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."}}