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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":"6490e390-8c4f-50ef-992f-df4829ec59b5","evidence_kind":"source_excerpt","locator":"Lines 964-975","start_line":964,"end_line":975,"excerpt":"### b3-redox-nadk2-patient-pool\nPatient fibroblasts bearing a pathogenic NADK2 alteration had reduced mitochondrial NADP(H).\nCondition category: machinery_impairment\nnutrient_topic: Niacin research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The genetic defect impaired the mitochondrial phosphorylated cofactor pool.\norganism: Homo sapiens\ntissue_or_cell_type: Fibroblasts\nexperimental_model: Patient-derived fibroblasts\nlimitations: Single described patient context; mitochondrial NADP(H) shortage arose from kinase machinery impairment, not demonstrated dietary niacin shortage.\nexposure: Inherited NADK2 alteration\nevidence_span: {\"source_cache\": \"artifacts/niacin-redox-sources/nadk2-patient-2014.abstract.txt\", \"locator\": \"Indexed abstract, genetic and fibroblast results\", \"start_char\": 357, \"end_char\": 1462, \"file_sha256\": \"0e8ce719f0454f41ce98a5c35f75c88a21f5219f0d9b574cf8a793697f39db5a\", \"text_sha256\": \"e468b1beee1be208d337cdf94488aca05296b2dd3fcbba587ca323b8db6d2c96\"}\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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