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http://purl.uniprot.org/citations/26892125http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26892125http://www.w3.org/2000/01/rdf-schema#comment"

Background

Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) has been demonstrated to be essential for the in vivo function of lipoprotein lipase (LPL), the major triglyceride (TG)-hydrolyzing enzyme involved in the intravascular lipolysis of TG-rich lipoproteins. Recently, loss-of-function mutations of GPIHBP1 have been reported as the cause of type I hyperlipoproteinemia in several patients.

Methods

Two unrelated patients were referred to our Lipid Units because of a severe hypertriglyceridemia and recurrent pancreatitis. We measured LPL activity in postheparin plasma and serum ApoCII and sequenced LPL, APOC2, and GPIHBP1.

Results

The 2 patients exhibited very low LPL activity not associated with mutations in LPL gene or with ApoCII deficiency. The sequence of GPIHBP1 revealed 2 novel point mutations. One patient (proband 1) was found to be homozygous for a C>A transversion in exon 3 resulting in the conversion of threonine to lysine at position 80 (p.Thr80Lys). The other patient (proband 2) was found to be homozygous for a G>T transversion in the third base of the ATG translation initiation codon in exon 1, resulting in the conversion of methionine to isoleucine (p.Met1Ile).

Conclusion

In conclusion, we have identified 2 novel GPIHBP1 missense mutations in 2 unrelated patients as the cause of their severe hypertriglyceridemia."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.org/dc/terms/identifier"doi:10.1016/j.jacl.2015.09.007"xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Calandra S."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Tarugi P."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Olivecrona G."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Plana N."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Rabacchi C."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Valdivielso P."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Ariza M.J."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Rioja J."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Ibarretxe D."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Grande-Aragon C."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/author"Martinez-Hernandez P.L."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/name"J Clin Lipidol"xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/pages"92-100.e1"xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/title"Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis."xsd:string
http://purl.uniprot.org/citations/26892125http://purl.uniprot.org/core/volume"10"xsd:string
http://purl.uniprot.org/citations/26892125http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/26892125
http://purl.uniprot.org/citations/26892125http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/26892125
http://purl.uniprot.org/uniprot/#_Q8IV16-mappedCitation-26892125http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/26892125
http://purl.uniprot.org/uniprot/Q8IV16http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/26892125