{"id":"87f2c1f2-135b-5d0e-b08f-a25dec52868c","stable_key":"548ab9d6-3a9b-5bed-879c-17d03813b636:transport-flad1-s495del-stabilization","predicate":"stabilizes","statement":"Excess FAD reconstitution restored bound flavin and increased proteolytic stability of recombinant p.Ser495del FADS2.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"6bffc749-0cc9-515e-a84c-2010bef40d73","mechanism_event_label":"FAD helped stabilize this particular altered enzyme.","subject":{"id":"e2cd7179-f218-54e8-9ce9-7a836ae35fac","slug":"fad","display_name":"FAD","entity_type_key":"small_molecule"},"object":{"id":"043a308c-1d5b-5003-8c9f-6e1acd588ac3","slug":"flad1-s495del","display_name":"FLAD1 p.Ser495del variant","entity_type_key":"protein_state"},"evidence_count":1,"mechanism_event":{"id":"6bffc749-0cc9-515e-a84c-2010bef40d73","stable_key":"548ab9d6-3a9b-5bed-879c-17d03813b636:transport-flad1-s495del-stabilization-event","event_type":"biochemical_relationship","label":"FAD helped stabilize this particular altered enzyme.","description":"Excess FAD reconstitution restored bound flavin and increased proteolytic stability of recombinant p.Ser495del FADS2.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"e2cd7179-f218-54e8-9ce9-7a836ae35fac","slug":"fad","display_name":"FAD","entity_type_key":"small_molecule"},"role":"in-vitro-rescue-ligand","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"043a308c-1d5b-5003-8c9f-6e1acd588ac3","slug":"flad1-s495del","display_name":"FLAD1 p.Ser495del variant","entity_type_key":"protein_state"},"role":"variant-protein","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_location","value_text":"Figure 4A-B","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Recombinant variant FAD reconstitution and proteolysis","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Molar excess FAD during in vitro reconstitution.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Direct FAD exposure in vitro; does not prove universal rescue by dietary riboflavin.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Riboflavin research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"riboflavin","display_name":"Riboflavin (vitamin B2)","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"Homo sapiens protein","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"FAD helped stabilize this particular altered enzyme.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[transport-flad1-disease-2016] Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency (2016). https://pmc.ncbi.nlm.nih.gov/articles/PMC4908180/ DOI: 10.1016/j.ajhg.2016.04.006","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Purified protein","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":"e66b1987-22fd-5d4e-89e6-f041f31aa5ff","evidence_kind":"source_excerpt","locator":"Lines 399-410","start_line":399,"end_line":410,"excerpt":"### transport-flad1-s495del-stabilization\nExcess FAD reconstitution restored bound flavin and increased proteolytic stability of recombinant p.Ser495del FADS2.\nCondition category: machinery_impairment\nnutrient_topic: Riboflavin research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: FAD helped stabilize this particular altered enzyme.\norganism: Homo sapiens protein\ntissue_or_cell_type: Purified protein\nexperimental_model: Recombinant variant FAD reconstitution and proteolysis\nlimitations: Direct FAD exposure in vitro; does not prove universal rescue by dietary riboflavin.\nexposure: Molar excess FAD during in vitro reconstitution.\nevidence_location: Figure 4A-B\n[transport-flad1-disease-2016] Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency (2016). https://pmc.ncbi.nlm.nih.gov/articles/PMC4908180/ DOI: 10.1016/j.ajhg.2016.04.006","model_system":"Recombinant variant FAD reconstitution and proteolysis","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [transport-flad1-disease-2016] Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency (2016). https://pmc.ncbi.nlm.nih.gov/articles/PMC4908180/ DOI: 10.1016/j.ajhg.2016.04.006","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"4f7c9578-82bf-5e2d-b5c4-72a79fb4f6af","stable_key":"import-548ab9d6-3a9b-5bed-879c-17d03813b636","title":"Riboflavin: mechanisms, deficiency and nutrient interactions (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":"680cb6bc8249877f2410f551807f10d390fdd719014137d7414ba3420e29228d","revision_id":"7a61e299-908d-5372-860b-99ed190f9d7a","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}