{"id":"W7117357398","doi":"10.1186/s40659-025-00655-w","title":"Mitochondrial and lysosomal dysfunctions might be involved in the pathogenesis of the CACNA1A-related neurodevelopmental disorders according to in vitro studies","year":2025,"lang":"en","type":"article","venue":"Biological Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Natural Science Foundation of Hunan Province","keywords":"Mitochondrion; Mitochondrial DNA; mitochondrial fusion; Chinese hamster ovary cell; Mitochondrial disease; Mitophagy; DNAJA3; Adenosine triphosphate; Mutation; PINK1","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":[0.0005822592,0.0005635438,0.0003957538,0.0005220966,0.0003637317,0.0004996917,0.0004078263,0.0004653319,0.001884773],"category_scores_gemma":[0.0004114219,0.0001386006,0.0006136388,0.0003083545,0.0003459082,0.0003991863,0.0002946861,0.0005748566,0.0005418048],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000653939,"about_ca_system_score_gemma":0.0002492824,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001055581,"about_ca_topic_score_gemma":0.001231218,"domain_scores_codex":[0.9996102,0.00009428775,0.00006096244,0.00008843267,0.000098406,0.00004758521],"domain_scores_gemma":[0.99968,0.00006342255,0.0000862559,0.0000498232,0.00009080167,0.00002966506],"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":[0.0002652413,0.00007729703,0.003555772,0.000315881,0.00005836366,0.0003636947,0.00006727599,0.000133988,0.9927845,0.0002117538,0.0001191107,0.002047093],"study_design_scores_gemma":[0.00002617465,0.0004454431,0.01324083,0.00004516867,0.000220239,0.001922671,0.0001296452,0.001268558,0.9757412,0.0002535999,0.006693908,0.00001257832],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9643812,0.02102946,0.008636003,0.0005635537,0.000199668,0.00009716129,0.001522482,0.0001093146,0.003461229],"genre_scores_gemma":[0.9812281,0.008317358,0.005715548,0.0001936499,0.00006912035,0.00009151284,0.002210357,0.00003072578,0.002143737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001884773,"threshold_uncertainty_score":0.006305158,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06102038848386446,"score_gpt":0.3507413847359854,"score_spread":0.289720996252121,"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."}}