{"id":"W4391350860","doi":"10.1038/s41588-024-01653-6","title":"Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum","year":2024,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":133,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Université Laval; Hospital for Sick Children","funders":"National Institute on Aging; Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; University of Washington; CHDI Foundation; University of Michigan; Cure Huntington's Disease Initiative; National Institutes of Health; Government of Canada; Hereditary Disease Foundation; Sigrid Juséliuksen Säätiö; U.S. Department of Veterans Affairs","keywords":"Biology; Huntingtin; Cerebellum; Striatum; Huntington's disease; Cell biology; Somatic cell; Mutant; Medium spiny neuron; Huntingtin Protein; Programmed cell death; Polyglutamine tract; Trinucleotide repeat expansion; Purkinje cell; Neurodegeneration; Molecular biology; Neuroscience; Genetics; Apoptosis; Gene; Internal 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":[0.0001155877,0.0001969862,0.0002053935,0.0001747984,0.00009984146,0.00007789535,0.0001644089,0.0001844542,0.00002785148],"category_scores_gemma":[0.0001750859,0.000185533,0.00003875274,0.0004524636,0.0001774325,0.00003825396,0.0001781269,0.0004784585,0.000002294035],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001717814,"about_ca_system_score_gemma":0.0000598686,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004975661,"about_ca_topic_score_gemma":0.00001537806,"domain_scores_codex":[0.9983533,0.0001346184,0.0002993346,0.000676673,0.0002776144,0.0002584853],"domain_scores_gemma":[0.9992906,0.0001643039,0.00006102357,0.0003268385,0.00004897877,0.0001081958],"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":[0.00001081822,0.00006165135,0.002973665,0.0000749599,0.000001775804,0.0000378071,0.0002760337,0.00006411372,0.9951117,0.0002731491,0.0006080209,0.0005062945],"study_design_scores_gemma":[0.0002535235,0.0001272495,0.01188925,0.00005299829,0.00001607095,0.00001137181,0.00007823591,0.0004246814,0.9848688,0.0004074158,0.001698963,0.0001714671],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9877676,0.01084107,0.00001379708,0.0001037106,0.0004288044,0.0002682852,0.00006478194,0.00003777436,0.0004742078],"genre_scores_gemma":[0.9977096,0.001511857,0.0003135321,0.0001487169,0.00008961483,0.000004333124,0.000003816455,0.00003132766,0.0001871854],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01024294,"threshold_uncertainty_score":0.7565818,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02053722462787267,"score_gpt":0.2769974415911682,"score_spread":0.2564602169632956,"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."}}