{"id":"W4410754678","doi":"10.1038/s41588-025-02172-8","title":"Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice","year":2025,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"National Institute of Biomedical Imaging and Bioengineering; National Institute of Allergy and Infectious Diseases; National Institute of General Medical Sciences; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Heart, Lung, and Blood Institute","keywords":"Trinucleotide repeat expansion; Ataxia; Biology; Genetics; Allele; Somatic cell; Huntington's disease; Gene; Disease; Neuroscience; Pathology; Medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001968596,0.0003083269,0.0002269834,0.0002066062,0.0001040107,0.0002073702,0.0002180973,0.0003697538,0.001198036],"category_scores_gemma":[0.0001487533,0.0001099392,0.0001640848,0.00007190187,0.0001783517,0.0001009001,0.0001644873,0.0003896887,0.0002259308],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001273475,"about_ca_system_score_gemma":0.0001341494,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004322275,"about_ca_topic_score_gemma":0.0009947015,"domain_scores_codex":[0.9998456,0.00002888852,0.00001964289,0.00003739094,0.00004801366,0.0000203373],"domain_scores_gemma":[0.9999056,0.00002115128,0.0000301345,0.00001128221,0.000008020291,0.00002379672],"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":[0.00003671872,0.00003121009,0.00007648483,0.00001152846,0.000007620397,0.00004529761,0.00001347569,0.00005462617,0.9982842,0.00009401866,0.00003139009,0.001313405],"study_design_scores_gemma":[0.00003199237,0.0006278736,0.002251759,0.000008757796,0.00003006059,0.0007065987,0.00001574204,0.0008787166,0.9919859,0.00008180633,0.003375007,0.000005786518],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909679,0.0007935234,0.005408623,0.00008400639,0.00004214646,0.00005633949,0.000208502,0.0001721388,0.002266791],"genre_scores_gemma":[0.9890535,0.000567488,0.006579239,0.00007091254,0.00001155,0.00003570865,0.0004189771,0.00005511593,0.003207482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001198036,"threshold_uncertainty_score":0.004007816,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01546303035832527,"score_gpt":0.263066599348996,"score_spread":0.2476035689906707,"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."}}