SPARQL | HTML5 RDFa and Microdata document
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    • http://purl.org/dc/terms/isPartOf
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    • http://purl.org/dc/terms/isPartOf
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    • http://purl.org/dc/terms/isPartOf
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5108_r134580
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    • http://www.w3.org/1999/02/22-rdf-syntax-ns#type
      • http://vocabularies.wikipathways.org/wp#Pathway
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      • https://identifiers.org/wikipathways/WP5108
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      • WikiPathways
    • http://purl.org/dc/elements/1.1/title
      • Familial hyperlipidemia type 1
    • http://purl.org/dc/terms/description
      • Familial hyperlipidemias are classified according to the Fredrickson classification. Type 1 of this classification is linked to a decrease of LPL, either through mutations on the gene itself or because of other factors. LPL hydrolyzed triglycerides in chylomicrons and in very low-density lipoproteins. Type 1 familial hyperlipidemia shows an increase of chylomicrons. LPL normally hydrolizes these chylomicrons into chylomicron remnants. However, mutations in LPL have been shown to be the cause of the first form of type 1 hyperlipidemia. In tissue, LMF1 causes proper folding and assembly of LPL, which is stabalized by Sel1L. LPL is then transported to the endothelial cell surface of the capillary lumen, where it binds to GPIHBP1. APOC2 is essential for LPL activation, which is stabalized by APOA5. Studies have found another form of LPL activity, but with an increased amount of LPL inhibitors. These inhibitors are ANGPTL3,4 and 8. Which of these are inhibiting LPL depends on the tissue the LPL is in.
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      • WP5108
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      • https://identifiers.org/pubmed/23055695
      • https://identifiers.org/pubmed/31676439
      • https://identifiers.org/pubmed/32120838
      • https://identifiers.org/pubmed/32198194
      • https://identifiers.org/pubmed/28766509
      • https://identifiers.org/pubmed/29100061
      • https://identifiers.org/pubmed/30249788
      • https://identifiers.org/pubmed/30333156
      • https://identifiers.org/pubmed/31462513
    • http://vocabularies.wikipathways.org/wp#cellTypeOntologyTag
      • http://purl.obolibrary.org/obo/CL_0000182
    • http://vocabularies.wikipathways.org/wp#diseaseOntologyTag
      • http://purl.obolibrary.org/obo/DOID_1168
      • http://purl.obolibrary.org/obo/DOID_0111419
      • http://purl.obolibrary.org/obo/DOID_0111420
      • http://purl.obolibrary.org/obo/DOID_0111422
      • http://purl.obolibrary.org/obo/DOID_0111417
      • http://purl.obolibrary.org/obo/DOID_14118
      • http://purl.obolibrary.org/obo/DOID_0111418
    • http://vocabularies.wikipathways.org/wp#isAbout
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    • http://vocabularies.wikipathways.org/wp#ontologyTag
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      • http://purl.obolibrary.org/obo/CL_0000182
      • http://purl.obolibrary.org/obo/DOID_0111419
      • http://purl.obolibrary.org/obo/PW_0000013
      • http://purl.obolibrary.org/obo/DOID_0111420
      • http://purl.obolibrary.org/obo/DOID_0111422
      • http://purl.obolibrary.org/obo/DOID_0111418
      • http://purl.obolibrary.org/obo/DOID_0111417
      • http://purl.obolibrary.org/obo/DOID_14118
      • http://vocabularies.wikipathways.org/wp#Curation:RareDiseases
      • http://purl.obolibrary.org/obo/DOID_1168
    • http://vocabularies.wikipathways.org/wp#organism
      • http://purl.obolibrary.org/obo/NCBITaxon_9606
    • http://vocabularies.wikipathways.org/wp#organismName
      • Homo sapiens
    • http://vocabularies.wikipathways.org/wp#pathwayOntologyTag
      • http://purl.obolibrary.org/obo/PW_0000013
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      • https://www.wikipathways.org//wpi/wpi.php?action=downloadFile&type=png&pwTitle=Pathway:WP5108&oldid=134580
      • https://www.wikipathways.org//wpi/wpi.php?action=downloadFile&type=svg&pwTitle=Pathway:WP5108&oldid=134580
  • https://identifiers.org/chebi/CHEBI:16113
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