{"id":"d28e0ec8-6e34-5e6d-b1eb-a5f1e718a1e0","stable_key":"e3f6ce02-0bd7-5103-acc1-68503ab6751b:coa-mutant-rescue","predicate":"context_dependent_observation","statement":"SLC25A42 N291D failed to restore mitochondrial CoA pools that wild-type SLC25A42 rescued.","claim_class":"observational","status":"source_recorded","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"6b50c965-56b3-58ed-8d81-19fd1fdfe4c5","mechanism_event_label":"SLC25A42 N291D failed to restore mitochondrial CoA pools that wild-type SLC25A42 rescued.","subject":{"id":"14124a14-1eb8-5e7b-89d2-ad6ed3409238","slug":"slc25a42","display_name":"Human mitochondrial coenzyme A transporter SLC25A42","entity_type_key":"protein"},"object":{"id":"94a217a9-2acb-5ce1-ae73-e7e7f024debd","slug":"human-mitochondrial-coash-pool","display_name":"Human-cell mitochondrial free CoASH pool","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"6b50c965-56b3-58ed-8d81-19fd1fdfe4c5","stable_key":"e3f6ce02-0bd7-5103-acc1-68503ab6751b:coa-mutant-rescue-event","event_type":"experimental_observation","label":"SLC25A42 N291D failed to restore mitochondrial CoA pools that wild-type SLC25A42 rescued.","description":"### coa-mutant-rescue\n\nSLC25A42 N291D failed to restore mitochondrial CoA pools that wild-type SLC25A42 rescued.\nThe mutant protein reached mitochondria; protein presence did not establish transport function. Mitochondrially targeted COASY also failed to restore the depleted pool.\nModel and exposure: Human K562 SLC25A42 knockout with re-expression; Fig. 6.\nLimitations: Limited to the recorded preparation, model, exposure and endpoint. Does not establish a human dietary deficiency, clinical benefit or unique molecular mediation.\nReference: Cellular pan-chain acyl-CoA profiling reveals SLC25A42/SLC25A16 in mitochondrial CoA import and metabolism. | 2025 | https://pubmed.ncbi.nlm.nih.gov/40925986/ | https://pmc.ncbi.nlm.nih.gov/articles/PMC12460162/ | https://doi.org/10.1038/s42255-025-01358-y | Access: Primary full text: relevant Results/Methods and figure descriptions reviewed; supplements only where explicitly stated.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"14124a14-1eb8-5e7b-89d2-ad6ed3409238","slug":"slc25a42","display_name":"Human mitochondrial coenzyme A transporter SLC25A42","entity_type_key":"protein"},"role":"tested factor","stoichiometry":null,"state_label":"N291D SLC25A42 re-expression","sequence_order":0,"notes":""},{"entity":{"id":"94a217a9-2acb-5ce1-ae73-e7e7f024debd","slug":"human-mitochondrial-coash-pool","display_name":"Human-cell mitochondrial free CoASH pool","entity_type_key":"cellular_process"},"role":"measured outcome","stoichiometry":null,"state_label":"mixed","sequence_order":1,"notes":""},{"entity":{"id":"4faa6456-aff8-59eb-9e3f-3326a436e401","slug":"coenzyme-a","display_name":"Coenzyme A","entity_type_key":"small_molecule"},"role":"measured pool","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"485e7221-d4ad-55fc-a7f2-28caa0d05066","slug":"coasy","display_name":"Coenzyme A synthase / COASY","entity_type_key":"protein"},"role":"separate failed rescue machinery","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_access","value_text":"Primary full text: relevant Results/Methods and figure descriptions reviewed; supplements only where explicitly stated.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_contrast","value_text":"{\"intervention\": \"N291D SLC25A42 re-expression\", \"comparator\": \"Wild-type SLC25A42 re-expression in knockout cells\", \"endpoint\": \"SLC25A42 N291D failed to restore mitochondrial CoA pools that wild-type SLC25A42 rescued.\", \"effect_direction\": \"mixed\", \"combination\": \"single\", \"conditions\": []}","comparator":null,"unit":null,"notes":"Explicit extracted experimental comparison; source-derived draft.","entity":null},{"dimension":"experimental_model","value_text":"Human K562 SLC25A42 knockout with re-expression; Fig. 6.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"interpretation_status","value_text":"Source-derived curation with stated access limits; ungraded, not independent replication.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Limited to the recorded preparation, model, exposure and endpoint. Does not establish a human dietary deficiency, clinical benefit or unique molecular mediation.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Acetyl-L-carnitine collection; exact intervention and molecular form govern interpretation.","comparator":null,"unit":null,"notes":"","entity":{"slug":"acetylcarnitine","display_name":"Acetyl-L-carnitine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"SLC25A42 N291D failed to restore mitochondrial CoA pools that wild-type SLC25A42 rescued.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Cellular pan-chain acyl-CoA profiling reveals SLC25A42/SLC25A16 in mitochondrial CoA import and metabolism. | https://pubmed.ncbi.nlm.nih.gov/40925986/ | https://pmc.ncbi.nlm.nih.gov/articles/PMC12460162/ | https://doi.org/10.1038/s42255-025-01358-y","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"source_locator","value_text":"Reviewed reference coa-mutant-rescue; The mutant protein reached mitochondria; protein presence did not establish transport function. Mitochondrially targeted COASY also failed to restore the depleted pool.","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":"ec16f6ba-bdb7-5f7f-aee1-c8d445f8175a","evidence_kind":"source_excerpt","locator":"Lines 84-90","start_line":84,"end_line":90,"excerpt":"### coa-mutant-rescue\n\nSLC25A42 N291D failed to restore mitochondrial CoA pools that wild-type SLC25A42 rescued.\nThe mutant protein reached mitochondria; protein presence did not establish transport function. Mitochondrially targeted COASY also failed to restore the depleted pool.\nModel and exposure: Human K562 SLC25A42 knockout with re-expression; Fig. 6.\nLimitations: Limited to the recorded preparation, model, exposure and endpoint. Does not establish a human dietary deficiency, clinical benefit or unique molecular mediation.\nReference: Cellular pan-chain acyl-CoA profiling reveals SLC25A42/SLC25A16 in mitochondrial CoA import and metabolism. | 2025 | https://pubmed.ncbi.nlm.nih.gov/40925986/ | https://pmc.ncbi.nlm.nih.gov/articles/PMC12460162/ | https://doi.org/10.1038/s42255-025-01358-y | Access: Primary full text: relevant Results/Methods and figure descriptions reviewed; supplements only where explicitly stated.","model_system":"Human K562 SLC25A42 knockout with re-expression; Fig. 6.","directness":"reported_statement","verification_status":"source_recorded","notes":"Original paraphrase in the retained reviewed reference, not a verbatim primary-paper quotation. Access level is explicit.","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"2588f904-245a-597a-8a12-65118013fb90","stable_key":"import-e3f6ce02-0bd7-5103-acc1-68503ab6751b","title":"Acetyl-L-carnitine: detailed mechanisms of action (reviewed 6 October 2026)","document_type":"imported_text","citation_label":"AI-assisted original review of primary studies and clearly identified official records. Exact primary access is stated; no independent replication is claimed.","file_path":"","sha256":"84cc82d6fbb0fd5d73c4ce779e9f88e7f0184ba2d29b18ad0f153815380f2975","revision_id":"dac7a950-dbe5-5c7a-9c70-2ea711d5c71a","review_status":"source_recorded","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}