{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000635487,0.0001639988,0.0001800156,0.000199432,0.00003216217,0.00001816026,0.0004446208,0.0001723461,0.00001843624],"category_scores_gemma":[0.0004186904,0.0001145807,0.0001439902,0.001300538,0.0002365407,0.0000113927,0.0001392883,0.000219571,0.000003567891],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004656427,"about_ca_system_score_gemma":0.0002336976,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006398385,"about_ca_topic_score_gemma":0.004397279,"domain_scores_codex":[0.9981182,0.0002793316,0.0006180608,0.0003933503,0.0003026325,0.0002884043],"domain_scores_gemma":[0.9992327,0.00004196604,0.0001116525,0.0004978685,0.00007829613,0.00003753693],"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":[0.0001656038,0.0001783237,0.0009595831,0.00009071354,0.000007073318,0.000003759067,0.000329757,0.0002198295,0.988952,0.0001812633,0.00004515285,0.008866922],"study_design_scores_gemma":[0.001436969,0.0001561105,0.05961033,0.0002652458,0.000005918501,0.000004619405,0.0001371249,0.001600262,0.9336104,0.00004696169,0.002975432,0.0001505697],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956869,0.002348271,0.00006627827,0.0007564221,0.0001417139,0.0005766629,0.0001362202,0.000006625598,0.0002809234],"genre_scores_gemma":[0.999239,0.0002268901,0.000111959,0.00002312073,0.00002504555,0.00003079871,0.00007740311,0.00002104159,0.0002447306],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05865075,"threshold_uncertainty_score":0.4672466,"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."}}