{"id":"b0033604-fcbf-51b1-b318-a0702b3c1088","stable_key":"c3df3634-4c3a-5099-a5d9-e4f6344c1084:lox-variants-enzyme-activity","predicate":"variants_reduce","statement":"Expressed LOX Ser280Arg and Ser348Arg variants had lower catalytic activity than wild-type LOX.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"73f6ba70-8923-5463-97ac-4ae2c2da3726","mechanism_event_label":"Some inherited enzyme changes reduce activity despite the presence of lysine substrates.","subject":{"id":"43675a5c-ac37-5f23-9467-60999708a539","slug":"lox","display_name":"LOX","entity_type_key":"protein"},"object":{"id":"a10a83c3-9021-5768-857c-bc976a73aa9a","slug":"lox-activity","display_name":"Lysyl oxidase catalytic activity","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"73f6ba70-8923-5463-97ac-4ae2c2da3726","stable_key":"c3df3634-4c3a-5099-a5d9-e4f6344c1084:lox-variants-enzyme-activity-event","event_type":"biochemical_relationship","label":"Some inherited enzyme changes reduce activity despite the presence of lysine substrates.","description":"Expressed LOX Ser280Arg and Ser348Arg variants had lower catalytic activity than wild-type LOX.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"43675a5c-ac37-5f23-9467-60999708a539","slug":"lox","display_name":"LOX","entity_type_key":"protein"},"role":"enzyme","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"a10a83c3-9021-5768-857c-bc976a73aa9a","slug":"lox-activity","display_name":"Lysyl oxidase catalytic activity","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"d16219e9-0c3e-5d65-bbb6-35cf24acbb06","slug":"lox-s280r","display_name":"LOX Ser280Arg variant","entity_type_key":"protein_state"},"role":"impaired_enzyme_variant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"1dab5601-ff3a-5d7e-85cd-98ffbbaac3ef","slug":"lox-s348r","display_name":"LOX Ser348Arg variant","entity_type_key":"protein_state"},"role":"impaired_enzyme_variant","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"experimental_model","value_text":"Human-family genetic study with expressed mutant-enzyme assays.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Variant-specific activity measurements; free lysine was not shown to rescue the defect.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"organism","value_text":"Human","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Some inherited enzyme changes reduce activity despite the presence of lysine substrates.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[lox-variants-2016] LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections (2016). https://pubmed.ncbi.nlm.nih.gov/26838787/ DOI: 10.1161/CIRCRESAHA.115.307130","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Not specified as a whole tissue; see experimental model.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"a76c0eb7-5f68-5258-b9d0-ced294f1fa58","evidence_kind":"source_excerpt","locator":"Lines 517-525","start_line":517,"end_line":525,"excerpt":"### lox-variants-enzyme-activity\nExpressed LOX Ser280Arg and Ser348Arg variants had lower catalytic activity than wild-type LOX.\nPlain language: Some inherited enzyme changes reduce activity despite the presence of lysine substrates.\nCondition category: machinery_impairment\norganism: Human\ntissue_or_cell_type: Not specified as a whole tissue; see experimental model.\nexperimental_model: Human-family genetic study with expressed mutant-enzyme assays.\nlimitations: Variant-specific activity measurements; free lysine was not shown to rescue the defect.\n[lox-variants-2016] LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections (2016). https://pubmed.ncbi.nlm.nih.gov/26838787/ DOI: 10.1161/CIRCRESAHA.115.307130","model_system":"Human-family genetic study with expressed mutant-enzyme assays.","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact quote from the accompanying curation document, not from publisher text. Original study references: [lox-variants-2016] LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections (2016). https://pubmed.ncbi.nlm.nih.gov/26838787/ DOI: 10.1161/CIRCRESAHA.115.307130","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"7633bde7-dcc9-5086-91c6-a45eb96857f3","stable_key":"import-c3df3634-4c3a-5099-a5d9-e4f6344c1084","title":"L-Lysine: mechanism-first literature curation (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"93998d47c21525409ba82f1c82ededf2893dff15fbe61c7deffc175b0e298e97","revision_id":"3897e31f-6624-59e1-a053-8a81b7361632","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}