{"id":"W3170804229","doi":"10.1038/s41598-021-91367-0","title":"Rare CASP6N73T variant associated with hippocampal volume exhibits decreased proteolytic activity, synaptic transmission defect, and neurodegeneration","year":2021,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University; Montreal General Hospital; Jewish General Hospital","funders":"National Institute on Aging; Fonds de recherche du Québec – Nature et technologies; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; Genentech; National Institutes of Health; Fondation de l'Hôpital général juif; U.S. National Library of Medicine; National Institute of Neurological Disorders and Stroke; IXICO; National Institute of General Medical Sciences; H. Lundbeck A/S; Jewish General Hospital; Eisai; U.S. Department of Defense; Eli Lilly and Company; Universities Space Research Association; Northern California Institute for Research and Education; Illinois Department of Public Health; Rush University; Servier; CurePSP; Natural Sciences and Engineering Research Council of Canada; Pfizer; Biogen; BioClinica; Mayo Foundation for Medical Education and Research; F. Hoffmann-La Roche; Mayo Clinic; University of Southern California; Bristol-Myers Squibb; Alzheimer's Association; Alzheimer Society; Translational Genomics Research Institute; Novartis Pharmaceuticals Corporation; Arizona Department of Health Services; Michael J. Fox Foundation for Parkinson's Research; Arizona Biomedical Research Commission; Foundation for the National Institutes of Health; Alzheimer's Disease Neuroimaging Initiative; Meso Scale Diagnostics","keywords":"Neurodegeneration; Biology; Hippocampal formation; Cognitive decline; Neuroscience; Medicine; Pathology; Dementia","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000110115,0.0005362225,0.0003558326,0.0003818769,0.0002872287,0.0002537816,0.0002022746,0.0005285653,0.001735021],"category_scores_gemma":[0.0003662685,0.00009307224,0.0003913133,0.0003415683,0.000364969,0.0001224083,0.0001888021,0.0004504781,0.0003578903],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001377925,"about_ca_system_score_gemma":0.0001240579,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007059228,"about_ca_topic_score_gemma":0.0007733853,"domain_scores_codex":[0.9998631,0.00001568446,0.00002230364,0.00004442022,0.00003769507,0.00001678986],"domain_scores_gemma":[0.9997434,0.00003596938,0.0001296931,0.00002243848,0.00002622374,0.00004228321],"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":[0.001572524,0.0001998808,0.0352117,0.0002069715,0.0002692388,0.07812512,0.000270478,0.0002731846,0.8663765,0.0006073679,0.001167394,0.01571966],"study_design_scores_gemma":[0.0002084606,0.0009729118,0.3297041,0.00006069424,0.0004898417,0.4109694,0.0004028504,0.001626967,0.2463034,0.001576531,0.007601161,0.00008368635],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962026,0.000851593,0.001483708,0.0001208222,0.00006780035,0.00001336426,0.0003674969,0.00006736723,0.0008252006],"genre_scores_gemma":[0.9982762,0.0003005983,0.0005653664,0.00005056798,0.00003835521,0.000006576086,0.0002659621,0.00001661705,0.0004797049],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001735021,"threshold_uncertainty_score":0.005804241,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01907881806870313,"score_gpt":0.2611695873897195,"score_spread":0.2420907693210163,"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."}}