{"id":"W4403102659","doi":"10.3390/biom14101252","title":"A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ)","year":2024,"lang":"en","type":"article","venue":"Biomolecules","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Network of European Institutes for Advanced Study; Ottawa Hospital Research Institute; European Commission; Canada Foundation for Innovation; National Institutes of Health; Canada First Research Excellence Fund","keywords":"Acetylcholine receptor; Biology; Skeletal muscle; Neuromuscular junction; Glycosylation; Neuromuscular transmission; Internal medicine; Nicotinic acetylcholine receptor; Biochemistry; Endocrinology; Receptor; Neuroscience; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00019421,0.0007490634,0.000350727,0.0004324534,0.0002298915,0.0002855008,0.0003487018,0.0006897893,0.001069714],"category_scores_gemma":[0.0001634137,0.0002531506,0.0004553951,0.0002748857,0.0004289641,0.0002218545,0.0002801335,0.0006307629,0.0004559759],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004546872,"about_ca_system_score_gemma":0.0002758263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009851754,"about_ca_topic_score_gemma":0.001487474,"domain_scores_codex":[0.9997826,0.00001885964,0.0000268027,0.00007849014,0.00006515593,0.00002801672],"domain_scores_gemma":[0.9997981,0.00002077142,0.0001081263,0.0000126848,0.00001638804,0.00004387461],"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":[0.00003482521,0.00001168496,0.0002775498,0.00003922968,0.000005529679,0.00007038516,0.000008819487,0.00002358595,0.9988241,0.00005132882,0.00002834555,0.000624781],"study_design_scores_gemma":[0.00001861161,0.0003160109,0.01206353,0.0000189198,0.00003901337,0.00129516,0.00004652235,0.0007727061,0.9821629,0.00006567444,0.003192105,0.000008897025],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892591,0.002148739,0.006208189,0.0001934523,0.00007204146,0.00004524184,0.001038078,0.0002253032,0.0008099194],"genre_scores_gemma":[0.9858948,0.002147929,0.006089322,0.0001172032,0.0000130178,0.00007448306,0.001615616,0.00005166927,0.003995984],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001069714,"threshold_uncertainty_score":0.003578603,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01277662304579066,"score_gpt":0.2738671855886829,"score_spread":0.2610905625428923,"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."}}