{"id":"c6874866-ae81-54ae-81e7-0b027a2031db","stable_key":"fe6af7fc-7372-5c4f-9c2f-2bbf56695397:phosphorus-slc25a3-fibroblast","predicate":"spares_in_tested_tissue","statement":"Fibroblast mitochondrial ATP synthesis was preserved, correlating with use of the alternative exon-3B isoform.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"neutral","is_public":true,"mechanism_event_id":"d4e3c205-2ff7-5df1-943c-2ef779ca9aa5","mechanism_event_label":"A preserved result in fibroblasts did not rule out the muscle defect.","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":"dc134610-232a-5b69-bdf3-c4d98515ee64","slug":"human-fibroblast-mitochondrial-atp-synthesis","display_name":"Human fibroblast mitochondrial ATP synthesis in the SLC25A3 assay","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"d4e3c205-2ff7-5df1-943c-2ef779ca9aa5","stable_key":"fe6af7fc-7372-5c4f-9c2f-2bbf56695397:phosphorus-slc25a3-fibroblast-event","event_type":"biochemical_relationship","label":"A preserved result in fibroblasts did not rule out the muscle defect.","description":"Fibroblast mitochondrial ATP synthesis was preserved, correlating with use of the alternative exon-3B isoform.","status":"provisional","compartment":null,"participants":[{"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":0,"notes":""},{"entity":{"id":"dc134610-232a-5b69-bdf3-c4d98515ee64","slug":"human-fibroblast-mitochondrial-atp-synthesis","display_name":"Human fibroblast mitochondrial ATP synthesis in the SLC25A3 assay","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/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":"A preserved result in fibroblasts did not rule out the muscle defect.","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":"7587a3b8-11d4-548a-a645-7dd1964df54d","evidence_kind":"source_excerpt","locator":"Lines 555-566","start_line":555,"end_line":566,"excerpt":"### phosphorus-slc25a3-fibroblast\nFibroblast mitochondrial ATP synthesis was preserved, correlating with use of the alternative exon-3B isoform.\nCondition category: machinery_impairment\nnutrient_topic: Phosphorus research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A preserved result in fibroblasts did not rule out the muscle defect.\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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