{"id":"W4413390030","doi":"10.1101/2025.08.15.670547","title":"Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy","year":2025,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre; Institute for Research in Immunology and Cancer; McGill University; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Canadian Institutes of Health Research; Centre hospitalier universitaire Sainte-Justine","keywords":"Interneuron; Biology; Glycosylation; Allele; Genetics; Cell biology; Neuroscience; Gene","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":[0.0003401029,0.001647431,0.0005313369,0.001610183,0.0004060533,0.0005706071,0.0005776965,0.001292011,0.003085635],"category_scores_gemma":[0.0001826384,0.000492951,0.0006852173,0.0004486249,0.0008630679,0.0004252086,0.000516133,0.001395204,0.0009224056],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006288535,"about_ca_system_score_gemma":0.0003448129,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001279913,"about_ca_topic_score_gemma":0.00181014,"domain_scores_codex":[0.9995348,0.00008148004,0.00008194644,0.0001171276,0.00009074416,0.0000937639],"domain_scores_gemma":[0.9995925,0.00005116843,0.0001380094,0.00003811083,0.00002281268,0.0001575422],"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":[0.0004528826,0.0002723147,0.0003840956,0.0000467756,0.00002438874,0.001017523,0.00005859946,0.0001260006,0.9961739,0.0003971151,0.0001400419,0.0009064152],"study_design_scores_gemma":[0.0004950774,0.002602502,0.01172037,0.00008172949,0.0001788428,0.007327667,0.0003080529,0.003688312,0.9673555,0.0005741777,0.005627513,0.0000401834],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917797,0.0005393269,0.003238322,0.0003737109,0.00007588474,0.0001378044,0.001989146,0.0003481691,0.001517815],"genre_scores_gemma":[0.9853397,0.0008982178,0.003628801,0.0001539945,0.00002806584,0.0002383554,0.001688819,0.0001353295,0.007888718],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003085635,"threshold_uncertainty_score":0.01032251,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01710942819961625,"score_gpt":0.2502763210176518,"score_spread":0.2331668928180355,"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."}}