{"id":"a65ba45b-826d-5bf8-819e-d174dba59aec","stable_key":"3b5aff9b-4086-5574-bfb4-3ea49ba520d7:coq10-pdss2","predicate":"loss_impairs","statement":"Patient fibroblasts with PDSS2 variants had severely impaired decaprenyl-diphosphate synthesis.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"f4998ad1-3dfc-5711-8443-5259f7b2d074","mechanism_event_label":"The cell cannot finish CoQ normally if its tail-building machinery is impaired.","subject":{"id":"6f2ba753-f348-5ca7-95bd-01593c1ab194","slug":"pdss2","display_name":"Human decaprenyl-diphosphate synthase subunit 2 / PDSS2","entity_type_key":"protein"},"object":{"id":"2662ff7c-8044-542a-9420-50276f2e3072","slug":"coq-sidechain-biosynthesis","display_name":"Coenzyme Q isoprenoid side-chain biosynthesis","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"f4998ad1-3dfc-5711-8443-5259f7b2d074","stable_key":"3b5aff9b-4086-5574-bfb4-3ea49ba520d7:coq10-pdss2-event","event_type":"biochemical_relationship","label":"The cell cannot finish CoQ normally if its tail-building machinery is impaired.","description":"Patient fibroblasts with PDSS2 variants had severely impaired decaprenyl-diphosphate synthesis.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"12280be6-9483-56dd-a558-a7d0df55472f","slug":"decaprenyl-diphosphate","display_name":"Decaprenyl diphosphate","entity_type_key":"small_molecule"},"role":"product","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"6f2ba753-f348-5ca7-95bd-01593c1ab194","slug":"pdss2","display_name":"Human decaprenyl-diphosphate synthase subunit 2 / PDSS2","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"2662ff7c-8044-542a-9420-50276f2e3072","slug":"coq-sidechain-biosynthesis","display_name":"Coenzyme Q isoprenoid side-chain biosynthesis","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/coq10-research/17186472.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"e9c50c316029827591ba4c9e6cc96b6a1b7b890f5b8dadfd88ac686c73d83865\", \"start_char\": 0, \"end_char\": 1039, \"text_sha256\": \"e9c50c316029827591ba4c9e6cc96b6a1b7b890f5b8dadfd88ac686c73d83865\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human genetics and radiolabeled-substrate assays","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Compound heterozygous PDSS2 variants","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Rare genetic disease; dietary shortage and tissue-wide thresholds were not established.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Coenzyme Q10 research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"coq10","display_name":"Coenzyme Q10 / CoQ10 redox system","entity_type_key":"chemical_species"}},{"dimension":"organism","value_text":"Human infant and patient fibroblasts","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"The cell cannot finish CoQ normally if its tail-building machinery is impaired.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[coq10-p17186472] Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. (2006). https://pubmed.ncbi.nlm.nih.gov/17186472/ DOI: 10.1086/510023","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Muscle and fibroblast CoQ production","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":"032714a3-9ef2-5ee6-866c-d1bf15e70810","evidence_kind":"source_excerpt","locator":"Lines 190-201","start_line":190,"end_line":201,"excerpt":"### coq10-pdss2\nPatient fibroblasts with PDSS2 variants had severely impaired decaprenyl-diphosphate synthesis.\nCondition category: machinery_impairment\nnutrient_topic: Coenzyme Q10 research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The cell cannot finish CoQ normally if its tail-building machinery is impaired.\norganism: Human infant and patient fibroblasts\ntissue_or_cell_type: Muscle and fibroblast CoQ production\nexperimental_model: Human genetics and radiolabeled-substrate assays\nlimitations: Rare genetic disease; dietary shortage and tissue-wide thresholds were not established.\nexposure: Compound heterozygous PDSS2 variants\nevidence_span: {\"source_cache\": \"artifacts/coq10-research/17186472.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"e9c50c316029827591ba4c9e6cc96b6a1b7b890f5b8dadfd88ac686c73d83865\", \"start_char\": 0, \"end_char\": 1039, \"text_sha256\": \"e9c50c316029827591ba4c9e6cc96b6a1b7b890f5b8dadfd88ac686c73d83865\"}\n[coq10-p17186472] Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 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