{"id":"W4413929560","doi":"10.1101/2025.08.28.672891","title":"A Common PD-Risk <i>GBA1</i> Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction","year":2025,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"National Institutes of Health; Celgene; National Institute of Neurological Disorders and Stroke; Sanofi; GlaxoSmithKline; Deutsches Elektronen-Synchrotron; Pfizer; Verily Life Sciences; Bristol-Myers Squibb","keywords":"Glucocerebrosidase; Function (biology); Mitochondrion; Cell biology; Medicine; Internal medicine; Chemistry; Biology; Disease","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":[0.0001388776,0.0005437285,0.0003628309,0.0001976515,0.0002724456,0.0002538009,0.0003732823,0.0004936777,0.002712437],"category_scores_gemma":[0.0001267474,0.0001561872,0.0004814654,0.00022876,0.0003764227,0.0001123057,0.0003526463,0.0007758522,0.0009166748],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004129646,"about_ca_system_score_gemma":0.0002055951,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001381482,"about_ca_topic_score_gemma":0.001157672,"domain_scores_codex":[0.9998111,0.00003088203,0.00002321346,0.00005045598,0.00005014513,0.00003411984],"domain_scores_gemma":[0.9998839,0.0000117458,0.00003766401,0.00001368995,0.000007603076,0.00004540284],"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":[0.0002754797,0.00007753546,0.001218756,0.00003066036,0.00003874554,0.001183818,0.00001601813,0.0001792842,0.9946291,0.0003110376,0.0003769491,0.001662674],"study_design_scores_gemma":[0.000187756,0.0008195771,0.02930819,0.00003080593,0.000129488,0.01790882,0.00009236515,0.005172307,0.9335052,0.0005535433,0.01224788,0.00004391109],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995243,0.0004258204,0.0018279,0.0002131301,0.000052708,0.00003269841,0.0006488858,0.0001366926,0.001419188],"genre_scores_gemma":[0.9972312,0.0001359782,0.000997418,0.0001431181,0.000008278013,0.00002073837,0.0005100695,0.00003316941,0.0009200117],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002712437,"threshold_uncertainty_score":0,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01003197070512221,"score_gpt":0.2477267381533999,"score_spread":0.2376947674482777,"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."}}