ArticleJournal of medical genetics1994
Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.
Article in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 8 citations in OpenAlex.
- Review
- Biochemistry and pathophysiology of intravascular and intracellular lipolysis.Genes & development · 2013Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this paper we report on the molecular defect underlying apolipoprotein CII (apoCII) deficiency in an Italian kindred. ApoCII serves as cofactor for lipoprotein lipase (LPL) in triglyceride hydrolysis of chylomicrons and very low density lipoproteins. Homozygous apoCII deficiency manifests with type I hyperlipoproteinaemia and is a rare disorder of lipoprotein metabolism. Until now, only 10 kindreds with apoCII deficiency have been published and all underlying mutations were unique. The proband was the offspring of a consanguineous mating. Sequencing of cloned DNA from the proband presented in this report showed homozygosity for a C-->A substitution at position 3002 in the apoCII gene, resulting in the introduction of a premature stop codon at residue 37 of the mature apoCII protein. Therefore, a truncated apoCII is synthesised, lacking the part of the apolipoprotein that activates LPL. This mutation has previously been described in another Italian family and is known as apoCIIPadova. We propose that apoCIIPadova is a frequent cause of apoCII deficiency in persons of Italian descent.
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