{"id":"df82b8d9-34f5-5227-b6e0-283a0c9f550c","stable_key":"5d8e27d8-6a74-5560-827f-3f90908bbc34:ala-lipt2-lipoylation-loss","predicate":"loss_impairs","statement":"Patient LIPT2 defects reduced mitochondrial protein lipoylation; wild-type LIPT2 expression restored it.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"2a401daa-5bcf-5b8e-8268-cedf5cbe481b","mechanism_event_label":"Repairing the assembly enzyme restored attachment of the cofactor.","subject":{"id":"1bd56cad-1080-5586-bcd3-3c9d626443eb","slug":"lipt2","display_name":"Human octanoyltransferase / LIPT2","entity_type_key":"protein"},"object":{"id":"a545cda4-692b-5513-a8f3-71c0afb0736c","slug":"mitochondrial-protein-lipoylation","display_name":"Mitochondrial protein lipoylation","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"2a401daa-5bcf-5b8e-8268-cedf5cbe481b","stable_key":"5d8e27d8-6a74-5560-827f-3f90908bbc34:ala-lipt2-lipoylation-loss-event","event_type":"biochemical_relationship","label":"Repairing the assembly enzyme restored attachment of the cofactor.","description":"Patient LIPT2 defects reduced mitochondrial protein lipoylation; wild-type LIPT2 expression restored it.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"1bd56cad-1080-5586-bcd3-3c9d626443eb","slug":"lipt2","display_name":"Human octanoyltransferase / LIPT2","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"a545cda4-692b-5513-a8f3-71c0afb0736c","slug":"mitochondrial-protein-lipoylation","display_name":"Mitochondrial protein lipoylation","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/ala-research/28757203.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"a03fbeaf7603f02004672c4068bb20fba9021a7662964565bafe62ccecb0ee1f\", \"start_char\": 0, \"end_char\": 1639, \"text_sha256\": \"a03fbeaf7603f02004672c4068bb20fba9021a7662964565bafe62ccecb0ee1f\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Three affected children from two families and patient-derived fibroblasts","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Biallelic LIPT2 variants; wild-type gene rescue and lipoic acid supplementation","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Rare inherited disease; not evidence for common dietary lipoic-acid deficiency.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Alpha-lipoic acid research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"lipoic-acid","display_name":"Lipoic acid","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"Human","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Repairing the assembly enzyme restored attachment of the cofactor.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[ala-p28757203] Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. (2017). https://pubmed.ncbi.nlm.nih.gov/28757203/ DOI: 10.1016/j.ajhg.2017.07.001","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Patient cells and clinical phenotype","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":"fb3c97a4-a6d5-55e5-b8a2-d940d0e1a088","evidence_kind":"source_excerpt","locator":"Lines 416-427","start_line":416,"end_line":427,"excerpt":"### ala-lipt2-lipoylation-loss\nPatient LIPT2 defects reduced mitochondrial protein lipoylation; wild-type LIPT2 expression restored it.\nCondition category: machinery_impairment\nnutrient_topic: Alpha-lipoic acid research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Repairing the assembly enzyme restored attachment of the cofactor.\norganism: Human\ntissue_or_cell_type: Patient cells and clinical phenotype\nexperimental_model: Three affected children from two families and patient-derived fibroblasts\nlimitations: Rare inherited disease; not evidence for common dietary lipoic-acid deficiency.\nexposure: Biallelic LIPT2 variants; wild-type gene rescue and lipoic acid supplementation\nevidence_span: {\"source_cache\": \"artifacts/ala-research/28757203.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"a03fbeaf7603f02004672c4068bb20fba9021a7662964565bafe62ccecb0ee1f\", \"start_char\": 0, \"end_char\": 1639, \"text_sha256\": \"a03fbeaf7603f02004672c4068bb20fba9021a7662964565bafe62ccecb0ee1f\"}\n[ala-p28757203] Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. (2017). https://pubmed.ncbi.nlm.nih.gov/28757203/ DOI: 10.1016/j.ajhg.2017.07.001","model_system":"Three affected children from two families and patient-derived fibroblasts","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [ala-p28757203] Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. (2017). https://pubmed.ncbi.nlm.nih.gov/28757203/ DOI: 10.1016/j.ajhg.2017.07.001","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"d8afa8c2-ced9-5b28-90ca-2ac120ec7202","stable_key":"import-5d8e27d8-6a74-5560-827f-3f90908bbc34","title":"Alpha-lipoic acid: cofactor assembly, redox signaling 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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