{"id":"W4411036401","doi":"10.1101/2025.06.03.657600","title":"Translation-specific disruption of Col1a1 expression in multiple models of Spinal Muscular Atrophy can be rescued by Risdiplam.","year":2025,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital","funders":"HORIZON EUROPE Marie Sklodowska-Curie Actions; Horizon 2020 Framework Programme; Fondazione Cassa Di Risparmio Di Trento E Rovereto; Università degli Studi di Trento; European Commission","keywords":"Spinal muscular atrophy; Translation (biology); Atrophy; Expression (computer science); Neuroscience; Biology; Anatomy; Computer science; Genetics; Messenger RNA; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004692771,0.0004176033,0.0008950974,0.0005931629,0.00006528622,0.00002239762,0.0003512297,0.000513054,0.00002624631],"category_scores_gemma":[0.00009672793,0.0004373822,0.0003184793,0.0006967185,0.0002098453,0.0000669708,0.0002098647,0.0007426248,0.00000111918],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001584892,"about_ca_system_score_gemma":0.0006910412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002361407,"about_ca_topic_score_gemma":0.00001593072,"domain_scores_codex":[0.996724,0.0002518541,0.0008876802,0.0008719992,0.0008315105,0.0004329573],"domain_scores_gemma":[0.9976966,0.00006565511,0.0003205348,0.00119928,0.0005141007,0.0002038684],"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":[0.0006700598,0.0005298837,0.005965466,0.001961305,0.0001099006,0.00002681785,0.00004458719,0.000870746,0.9895695,0.00007574562,0.0001378704,0.0000381207],"study_design_scores_gemma":[0.004690166,0.0003070293,0.05458851,0.002856006,0.0001773495,2.453032e-8,0.00002326673,0.005433365,0.928993,0.000007237312,0.002404951,0.0005190471],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9802186,0.008426787,0.008237703,0.0002406962,0.0001890621,0.002016866,0.0005917101,0.00005887119,0.00001968749],"genre_scores_gemma":[0.991712,0.00315253,0.004754106,0.00003462443,0.00005255354,0.0002145258,0.000005737445,0.00006735745,0.00000654137],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06057645,"threshold_uncertainty_score":0.9998078,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03543793414483146,"score_gpt":0.2720458243081032,"score_spread":0.2366078901632717,"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."}}