{"id":"W4390990050","doi":"10.1016/j.stemcr.2023.12.007","title":"Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons","year":2024,"lang":"en","type":"article","venue":"Stem Cell Reports","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Medical Research Council; Alzheimer’s Research UK; Motor Neurone Disease Association; Alzheimer's Society; Medical Research Council Canada; UK Dementia Research Institute; Alzheimer Society","keywords":"Biology; Excitotoxicity; Amyotrophic lateral sclerosis; Neuroscience; Glutamate receptor; Synapse; Synaptic plasticity; Synaptic vesicle; Cell biology; Genetics; Pathology","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":[0.0001021411,0.0001174269,0.00009382924,0.000129986,0.00002514849,0.00003154348,0.00005233396,0.0000689814,0.0000100579],"category_scores_gemma":[0.00001304008,0.0001277502,0.00003855365,0.0002240945,0.00001808628,0.000003363002,0.00006111703,0.00006468032,0.00001679668],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002266343,"about_ca_system_score_gemma":0.00009561932,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003256918,"about_ca_topic_score_gemma":0.0004829551,"domain_scores_codex":[0.9989455,0.00003263348,0.0003053733,0.0004210726,0.00009911741,0.0001962861],"domain_scores_gemma":[0.9996801,0.000008883333,0.00003605447,0.0002039581,0.00001798305,0.00005302439],"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":[0.000008455606,0.00004582624,0.003625797,0.00003973448,0.00000758637,0.0003661811,0.0002227503,0.004238482,0.986428,0.0000102078,0.0002090176,0.004797968],"study_design_scores_gemma":[0.0004376719,0.0003400433,0.3838107,0.0001283469,0.00002547158,0.0002417942,0.0005859043,0.001704289,0.5930861,0.000403415,0.01854655,0.0006897618],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957262,0.0006570403,0.0001392145,0.000181765,0.0003147897,0.0002883226,0.000002263633,0.00001430816,0.002676127],"genre_scores_gemma":[0.9985603,0.00005609932,0.0001607116,0.0001115854,0.00001049995,0.00004733491,0.00006716606,0.0000239805,0.0009623091],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3933419,"threshold_uncertainty_score":0.5209503,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009628392758134477,"score_gpt":0.2338023010211328,"score_spread":0.2241739082629983,"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."}}