{"id":"2cdcf579-ca5a-5b35-9f08-7a2dd931bb5d","stable_key":"fe6af7fc-7372-5c4f-9c2f-2bbf56695397:phosphorus-slc25a3-muscle","predicate":"impairs","statement":"Intact muscle mitochondria from the affected siblings showed deficient ATP synthesis.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"1a68af14-052a-53a8-aa84-f98381bd2327","mechanism_event_label":"The defect appeared in the tissue using the affected carrier isoform.","subject":{"id":"205fcfa1-95c2-5050-89f4-106de29241f8","slug":"slc25a3-isoform-a-g72e","display_name":"Human SLC25A3 isoform A Gly72Glu variant","entity_type_key":"protein_state"},"object":{"id":"4fc830f8-a4bc-593e-a39b-a1e7da99fc00","slug":"human-muscle-mitochondrial-atp-synthesis","display_name":"Human muscle mitochondrial ATP synthesis in the SLC25A3 assay","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"1a68af14-052a-53a8-aa84-f98381bd2327","stable_key":"fe6af7fc-7372-5c4f-9c2f-2bbf56695397:phosphorus-slc25a3-muscle-event","event_type":"biochemical_relationship","label":"The defect appeared in the tissue using the affected carrier isoform.","description":"Intact muscle mitochondria from the affected siblings showed deficient ATP synthesis.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"ee63fe8e-92f3-552f-8049-a5f1fa1e1523","slug":"phosphate-ion","display_name":"Inorganic phosphate (Pi; protonation depends on pH)","entity_type_key":"ion"},"role":"transport_substrate","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"58b974f1-d389-5bf6-81cd-889c44442c42","slug":"atp","display_name":"ATP","entity_type_key":"small_molecule"},"role":"measured_product","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"205fcfa1-95c2-5050-89f4-106de29241f8","slug":"slc25a3-isoform-a-g72e","display_name":"Human SLC25A3 isoform A Gly72Glu variant","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"4fc830f8-a4bc-593e-a39b-a1e7da99fc00","slug":"human-muscle-mitochondrial-atp-synthesis","display_name":"Human muscle mitochondrial ATP synthesis in the SLC25A3 assay","entity_type_key":"cellular_process"},"role":"target","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":"evidence_span","value_text":"{\"source_cache\": \"artifacts/phosphorus-research/17273968.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2\", \"start_char\": 0, \"end_char\": 805, \"text_sha256\": \"ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human family genetics, mitochondrial functional assay and yeast complementation","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Two siblings with homozygous SLC25A3 exon-3A c.215G>A, p.Gly72Glu","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Isoform- and tissue-specific inherited transport defect; normal dietary phosphorus cannot be assumed to repair the carrier.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Phosphorus research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"phosphorus","display_name":"Phosphorus","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human; yeast functional complementation","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"The defect appeared in the tissue using the affected carrier isoform.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[phosphorus-p17273968] Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (2007). https://pubmed.ncbi.nlm.nih.gov/17273968/ DOI: 10.1086/511788","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Muscle compared with fibroblasts","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":"ac872958-2a9c-585e-bf81-404487b12406","evidence_kind":"source_excerpt","locator":"Lines 542-553","start_line":542,"end_line":553,"excerpt":"### phosphorus-slc25a3-muscle\nIntact muscle mitochondria from the affected siblings showed deficient ATP synthesis.\nCondition category: machinery_impairment\nnutrient_topic: Phosphorus research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The defect appeared in the tissue using the affected carrier isoform.\norganism: Human; yeast functional complementation\ntissue_or_cell_type: Muscle compared with fibroblasts\nexperimental_model: Human family genetics, mitochondrial functional assay and yeast complementation\nlimitations: Isoform- and tissue-specific inherited transport defect; normal dietary phosphorus cannot be assumed to repair the carrier.\nexposure: Two siblings with homozygous SLC25A3 exon-3A c.215G>A, p.Gly72Glu\nevidence_span: {\"source_cache\": \"artifacts/phosphorus-research/17273968.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2\", \"start_char\": 0, \"end_char\": 805, \"text_sha256\": \"ff20a374b5c0a96a013cb9dd52c86c9dcc63d157e35e8aac58266dd26da9c0a2\"}\n[phosphorus-p17273968] Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 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