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(2011). https://pubmed.ncbi.nlm.nih.gov/21944046/ DOI: 10.1016/j.ajhg.2011.08.011","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Fibroblasts and mitochondrial enzymes","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":"1d616606-315d-538d-a7ea-d97609b4caf2","evidence_kind":"source_excerpt","locator":"Lines 507-518","start_line":507,"end_line":518,"excerpt":"### ala-nfu1-patient-defect\nThe reported NFU1 splice-disrupting variant eliminated detectable mature mitochondrial NFU1 and accompanied lipoate-synthesis and 2-oxoacid dehydrogenase defects.\nCondition category: machinery_impairment\nnutrient_topic: Alpha-lipoic acid research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The cofactor pathway depends on correctly assembled iron-sulfur machinery.\norganism: Human\ntissue_or_cell_type: Fibroblasts and mitochondrial enzymes\nexperimental_model: Two families with Fe-S disorders and fibroblast gene complementation\nlimitations: Broader Fe-S defects can affect respiratory complexes as well as lipoylation; not direct proof of a BOLA3-to-LIAS transfer reaction.\nexposure: NFU1 and BOLA3 pathogenic variants; isoform-specific rescue\nevidence_span: {\"source_cache\": \"artifacts/ala-research/21944046.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"9cdfbbaf37dfadc160222f6b2205256e42d430569b731140b1d6f3132b157f44\", \"start_char\": 0, \"end_char\": 1658, \"text_sha256\": \"9cdfbbaf37dfadc160222f6b2205256e42d430569b731140b1d6f3132b157f44\"}\n[ala-p21944046] Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. (2011). https://pubmed.ncbi.nlm.nih.gov/21944046/ DOI: 10.1016/j.ajhg.2011.08.011","model_system":"Two families with Fe-S disorders and fibroblast gene complementation","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [ala-p21944046] Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. 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