{"doi":"10.1016/j.jlr.2023.100474","title":"Dissecting cell type–specific impact in lysosomal acid lipase deficiency–associated disorders","abstract":"Lysosomal acid lipase (LAL), encoded by the LIPA gene, is the only known acidic lipase that hydrolyzes cholesteryl ester (CE) and triglycerides (TG) in lysosomes. These lipids originate from endocytosis of lipoproteins or lipophagy of cytoplasmic lipid droplets (1). LAL is critical for lysosomal lipid breakdown (1). Loss-of-function (LOF) mutations in the LIPA gene result in Mendelian disorders, leading to CE and TG accumulation in various tissues. Mutations causing the complete absence or near-absence of LAL activity lead to infant-onset Wolman disease, with major clinical features including hepatosplenomegaly, malabsorption, and adrenal insufficiency, presenting a median life expectancy of approximately 4 months.","journal":"Journal of Lipid Research","year":2023,"id":377978,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9553,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":240029,"name":"Fang Li","orcid":"0000-0001-9180-3615","position":1,"is_corresponding":false},{"id":225062,"name":"Hanrui Zhang","orcid":"0000-0001-8655-938X","position":2,"is_corresponding":false},{"id":500595,"name":"Marit Westerterp","orcid":"0000-0003-2230-1659","position":0,"is_corresponding":true}],"reference_count":13,"raw_metadata":null,"created_at":"2026-07-19T01:16:40.346877Z","pmid":"37972729","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}