Article

Lipoprotein Lipase: Structure, Function, and Genetic Variation

2024-12-18

Abstract excerpt

Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase (LPL) cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) phenotype ranging from normal to severe hypertriglyceridemia (HTG), with longitudinal variation of phenotype severity seen often in a given carrier. Here we provide an updated overvie...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 33047d86-682c-50d2-90ea-b3077d8cbd9c
DOI: 10.20944/preprints202412.1414.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Lipoprotein Lipase: Structure, Function, and Genetic VariationDOI 10.20944/preprints202412.1414.v1Read

Lipoprotein Lipase: Structure, Function, and Genetic VariationSemantic proximity Read

What is the phenotype of heterozygous lipoprotein lipase deficiency?Semantic proximity Read

Lipoprotein lipase gene sequencing and plasma lipid profile.Semantic proximity Read

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.Semantic proximity Read

Phenotype in Individuals with Heterozygous Rare Variants in LIPC Encoding Hepatic Lipase.Semantic proximity Read

Understanding Hypertriglyceridemia: Integrating Genetic InsightsSemantic proximity Read

Molecular and functional characterization of familial chylomicronemia syndrome.Semantic proximity Read

Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants in LPL, APOC2, APOA5, GPIHBP1, LMF1, APOE and Polygenic Risk.Semantic proximity Read

Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.Semantic proximity Read

Genetics of Hypertriglyceridemia.Semantic proximity Read

New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.Semantic proximity Read

Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemiaSemantic proximity Read