{"id":"4e7cc671-2c8c-5d67-830c-96c487108862","stable_key":"0ad8610d-d575-5870-b7cd-763a9f750783:copper-menkes-residual-function","predicate":"residual_function_associated_with","statement":"The two early-treated children with normal neurodevelopment and myelination had variants permitting residual ATP7A activity or some correctly spliced transcript.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"3aad399a-3730-511d-bab9-00d77400e411","mechanism_event_label":"Delivering copper early worked best when some transport machinery still functioned.","subject":{"id":"b9f71896-3b5a-5cea-adb0-c775342c2fa4","slug":"atp7a","display_name":"Human copper-transporting ATPase ATP7A","entity_type_key":"protein"},"object":{"id":"2d335d42-94d0-5ce5-b894-978c445770a8","slug":"menkes-neurodevelopment","display_name":"Neurodevelopment following early copper treatment in Menkes disease","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"3aad399a-3730-511d-bab9-00d77400e411","stable_key":"0ad8610d-d575-5870-b7cd-763a9f750783:copper-menkes-residual-function-event","event_type":"observed_intervention","label":"Delivering copper early worked best when some transport machinery still functioned.","description":"The two early-treated children with normal neurodevelopment and myelination had variants permitting residual ATP7A activity or some correctly spliced transcript.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"b9f71896-3b5a-5cea-adb0-c775342c2fa4","slug":"atp7a","display_name":"Human copper-transporting ATPase ATP7A","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"2d335d42-94d0-5ce5-b894-978c445770a8","slug":"menkes-neurodevelopment","display_name":"Neurodevelopment following early copper treatment in Menkes disease","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/copper-research/18256395.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"e855a0286cb633432b654005d756aa1e887ddace4f2a4dc5fee6cca518d895ce\", \"start_char\": 0, \"end_char\": 2319, \"text_sha256\": \"e855a0286cb633432b654005d756aa1e887ddace4f2a4dc5fee6cca518d895ce\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Early-treatment Menkes cohort with historical comparison and functional genotyping","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Copper injections begun by 22 days in twelve infants; comparison with fifteen later-treated historical patients","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Not randomized; survival follow-up differed between cohorts. Genotype and residual function influenced outcome, so results cannot be generalized to every ATP7A variant.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Copper research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"copper","display_name":"Copper","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human infants","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Delivering copper early worked best when some transport machinery still functioned.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[copper-p18256395] Neonatal diagnosis and treatment of Menkes disease. (2008). https://pubmed.ncbi.nlm.nih.gov/18256395/ DOI: 10.1056/nejmoa070613","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Survival and neurodevelopment","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":"b76b29c0-e3ce-5898-bf9b-883af80d6f50","evidence_kind":"source_excerpt","locator":"Lines 1456-1467","start_line":1456,"end_line":1467,"excerpt":"### copper-menkes-residual-function\nThe two early-treated children with normal neurodevelopment and myelination had variants permitting residual ATP7A activity or some correctly spliced transcript.\nCondition category: machinery_impairment\nnutrient_topic: Copper research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Delivering copper early worked best when some transport machinery still functioned.\norganism: Human infants\ntissue_or_cell_type: Survival and neurodevelopment\nexperimental_model: Early-treatment Menkes cohort with historical comparison and functional genotyping\nlimitations: Not randomized; survival follow-up differed between cohorts. Genotype and residual function influenced outcome, so results cannot be generalized to every ATP7A variant.\nexposure: Copper injections begun by 22 days in twelve infants; comparison with fifteen later-treated historical patients\nevidence_span: {\"source_cache\": \"artifacts/copper-research/18256395.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"e855a0286cb633432b654005d756aa1e887ddace4f2a4dc5fee6cca518d895ce\", \"start_char\": 0, \"end_char\": 2319, \"text_sha256\": \"e855a0286cb633432b654005d756aa1e887ddace4f2a4dc5fee6cca518d895ce\"}\n[copper-p18256395] Neonatal diagnosis and treatment of Menkes disease. (2008). https://pubmed.ncbi.nlm.nih.gov/18256395/ DOI: 10.1056/nejmoa070613","model_system":"Early-treatment Menkes cohort with historical comparison and functional genotyping","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [copper-p18256395] Neonatal diagnosis and treatment of Menkes disease. (2008). https://pubmed.ncbi.nlm.nih.gov/18256395/ DOI: 10.1056/nejmoa070613","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"9afba495-cbdc-51aa-998e-70a930dba3be","stable_key":"import-0ad8610d-d575-5870-b7cd-763a9f750783","title":"Copper: transport, cuproenzymes, deficiency, excess and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. 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