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(2007). https://pubmed.ncbi.nlm.nih.gov/17332895/ DOI: 10.1172/jci29089","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"CoQ-dependent respiratory function","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":"9518a0e6-f18c-53ca-a328-3fad5f759c44","evidence_kind":"source_excerpt","locator":"Lines 203-214","start_line":203,"end_line":214,"excerpt":"### coq10-pdss1\nThe PDSS1 D308E variant was associated with deficient CoQ-dependent respiratory activity and defective functional complementation.\nCondition category: machinery_impairment\nnutrient_topic: Coenzyme Q10 research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A second independent gene controls the same precursor supply route.\norganism: Human families and yeast validation\ntissue_or_cell_type: CoQ-dependent respiratory function\nexperimental_model: Pedigrees, respiratory assays and yeast complementation\nlimitations: Distinct families and mutations; quinone rescue in an assay is not equivalent to proven oral treatment of every organ.\nexposure: PDSS1 D308E or COQ2 frameshift variants\nevidence_span: {\"source_cache\": \"artifacts/coq10-research/17332895.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"0a500ba6d7c7b5f32817074367d71993504fbd9c5a10cb76038faf718fb79b87\", \"start_char\": 0, \"end_char\": 1416, \"text_sha256\": \"0a500ba6d7c7b5f32817074367d71993504fbd9c5a10cb76038faf718fb79b87\"}\n[coq10-p17332895] Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 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