{"id":"W3138244479","doi":"10.1093/hmg/ddab078","title":"Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses","year":2021,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research","keywords":"Biology; Unfolded protein response; Cell biology; XBP1; Endoplasmic reticulum; Mitochondrion; mTORC1; Integrated stress response; AMPK; Phosphorylation; Protein kinase A; Biochemistry; Gene; Protein kinase B","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":[0.0003574391,0.0006968028,0.000766551,0.00137367,0.0004835842,0.000672121,0.0002108047,0.0006795336,0.001293364],"category_scores_gemma":[0.0003532153,0.0001605363,0.000938286,0.001442029,0.0002104843,0.0002058802,0.0004485349,0.0006742136,0.0003597342],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003955392,"about_ca_system_score_gemma":0.0002807254,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001398556,"about_ca_topic_score_gemma":0.002135884,"domain_scores_codex":[0.999679,0.00002559979,0.00003881903,0.0001199021,0.00008427376,0.00005246819],"domain_scores_gemma":[0.9997914,0.00006014818,0.00004773808,0.00002707097,0.00003142528,0.00004208835],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001153769,0.0001368865,0.07480433,0.0002342947,0.0005523812,0.005826771,0.0001908409,0.001015582,0.9016874,0.000177759,0.001117219,0.01310277],"study_design_scores_gemma":[0.00005779256,0.0004441477,0.8330849,0.00008005068,0.0006675826,0.01163673,0.0007684968,0.009036549,0.1343579,0.0008251213,0.008980003,0.00006075258],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9854118,0.001152282,0.002982841,0.0003319389,0.00005050675,0.00002561667,0.009317197,0.0001155203,0.0006122798],"genre_scores_gemma":[0.9792672,0.0007980568,0.00737642,0.0003118813,0.00002950078,0.00004154449,0.01142212,0.00006121134,0.0006920079],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001398556,"threshold_uncertainty_score":0.004326701,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04242254132525466,"score_gpt":0.3180189797726318,"score_spread":0.2755964384473771,"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."}}