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(2014). https://pubmed.ncbi.nlm.nih.gov/24847004/ DOI: 10.1093/hmg/ddu218","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"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":"3d6a8ddd-491d-549c-906f-b47c0316717b","evidence_kind":"source_excerpt","locator":"Lines 990-1001","start_line":990,"end_line":1001,"excerpt":"### b3-redox-nadk2-patient-decr-rescue\nTransfection with functional NADK2 rescued deficient DECR activity in the patient-cell experiments.\nCondition category: machinery_impairment\nnutrient_topic: Niacin research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Replacing the defective kinase restored the enzyme readout in cells.\norganism: Homo sapiens\ntissue_or_cell_type: Fibroblasts\nexperimental_model: Functional NADK2 transfection of patient fibroblasts\nlimitations: Cellular gene rescue; neither dietary niacin nor NADPH dosing was shown to reproduce it.\nexposure: Genetic complementation\nevidence_span: {\"source_cache\": \"artifacts/niacin-redox-sources/nadk2-patient-2014.abstract.txt\", \"locator\": \"Indexed abstract, rescue experiment\", \"start_char\": 706, \"end_char\": 1462, \"file_sha256\": \"0e8ce719f0454f41ce98a5c35f75c88a21f5219f0d9b574cf8a793697f39db5a\", \"text_sha256\": \"3e8d0b720e24732ab8f9603138f761f1dc2974876c1f81919cf5ecdae2f71eeb\"}\n[nadk2-patient-2014] Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. 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