{"id":"e0a6c21c-dac0-570b-8deb-a0e430b4e7c3","stable_key":"3b5aff9b-4086-5574-bfb4-3ea49ba520d7:coq10-kidney-sulfide","predicate":"defect_associated_with","statement":"Affected Pdss2-mutant kidneys accumulated sulfide and had reduced sulfide-oxidation pathway proteins.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"949fd048-692c-5694-b6e3-06636b5b8050","mechanism_event_label":"The same mutation had different biochemical consequences in different tissues.","subject":{"id":"16088a23-64cd-5629-ab6c-9d315b0eda1a","slug":"mouse-pdss2","display_name":"Mouse Pdss2","entity_type_key":"protein"},"object":{"id":"187f369e-2b78-5d44-97cb-abecc9c12bb3","slug":"renal-sulfide-accumulation","display_name":"Renal hydrogen sulfide accumulation","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"949fd048-692c-5694-b6e3-06636b5b8050","stable_key":"3b5aff9b-4086-5574-bfb4-3ea49ba520d7:coq10-kidney-sulfide-event","event_type":"biochemical_relationship","label":"The same mutation had different biochemical consequences in different tissues.","description":"Affected Pdss2-mutant kidneys accumulated sulfide and had reduced sulfide-oxidation pathway proteins.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"16088a23-64cd-5629-ab6c-9d315b0eda1a","slug":"mouse-pdss2","display_name":"Mouse Pdss2","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"187f369e-2b78-5d44-97cb-abecc9c12bb3","slug":"renal-sulfide-accumulation","display_name":"Renal hydrogen sulfide accumulation","entity_type_key":"cellular_process"},"role":"target","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_span","value_text":"{\"source_cache\": \"artifacts/coq10-research/27856618.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"a8b98767d3bed9661c05c7b82b55817b6d9912abd8bfc9dd9d59ca9763025485\", \"start_char\": 0, \"end_char\": 1261, \"text_sha256\": \"a8b98767d3bed9661c05c7b82b55817b6d9912abd8bfc9dd9d59ca9763025485\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Patient fibroblasts, biosynthesis inhibition and mouse genetics","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Genetic or pharmacological CoQ depletion and in-vitro repletion","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Tissue-specific disease models; mouse residual percentages are not diagnostic human thresholds.","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 fibroblasts/HeLa cells and Pdss2 mutant mice","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"The same mutation had different biochemical consequences in different tissues.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[coq10-p27856618] Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. (2017). https://pubmed.ncbi.nlm.nih.gov/27856618/ DOI: 10.15252/emmm.201606356","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Sulfide oxidation and tissue CoQ","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":"18cfb3bc-e5c4-5809-8933-e68ee01512b4","evidence_kind":"source_excerpt","locator":"Lines 567-578","start_line":567,"end_line":578,"excerpt":"### coq10-kidney-sulfide\nAffected Pdss2-mutant kidneys accumulated sulfide and had reduced sulfide-oxidation pathway proteins.\nCondition category: machinery_impairment\nnutrient_topic: Coenzyme Q10 research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The same mutation had different biochemical consequences in different tissues.\norganism: Human fibroblasts/HeLa cells and Pdss2 mutant mice\ntissue_or_cell_type: Sulfide oxidation and tissue CoQ\nexperimental_model: Patient fibroblasts, biosynthesis inhibition and mouse genetics\nlimitations: Tissue-specific disease models; mouse residual percentages are not diagnostic human thresholds.\nexposure: Genetic or pharmacological CoQ depletion and in-vitro repletion\nevidence_span: {\"source_cache\": \"artifacts/coq10-research/27856618.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"a8b98767d3bed9661c05c7b82b55817b6d9912abd8bfc9dd9d59ca9763025485\", \"start_char\": 0, \"end_char\": 1261, \"text_sha256\": \"a8b98767d3bed9661c05c7b82b55817b6d9912abd8bfc9dd9d59ca9763025485\"}\n[coq10-p27856618] Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. 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