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Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein
ARH appears to have a tissue-specific role in LDLR function, as it is required in liver but not in fibroblasts, and six mutations in a gene encoding a putative adaptor protein (ARH) are identified.
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.
Inherited Apolipoprotein A-V Deficiency in Severe Hypertriglyceridemia
- C. P. Oliva, L. Pisciotta, S. Calandra
- Biology, MedicineArteriosclerosis, thrombosis, and vascular…
- 9 December 2004
As predicted from animal studies, apoA-V deficiency is associated with severe hypertriglyceridemia in humans, and this observation suggests that apo A-V regulates the secretion and/or catabolism of triglyceride-rich lipoproteins.
Functional Lecithin: Cholesterol Acyltransferase Is Not Required for Efficient Atheroprotection in Humans
Genetically determined low LCAT activity in Italian families is not associated with enhanced preclinical atherosclerosis despite low high-density lipoprotein cholesterol levels, which challenges the notion that LCAT is required for effective atheroprotection and suggests that elevating LCAT expression or activity is not a promising therapeutic strategy to reduce cardiovascular risk.
Transcriptional Regulation of Human CYP27 Integrates Retinoid, Peroxisome Proliferator-Activated Receptor, and Liver X Receptor Signaling in Macrophages
The findings suggest that nuclear receptor-regulated CYP27 expression is likely to be a key integrator of retinoic acid receptor-PPARγ-LXR signaling, relying on natural ligands and contributing to lipid metabolism in macrophages.
Relationship among the concentrations of serum lipoproteins and changes in their chemical composition in patients with untreated nephrotic syndrome
- E. Gherardi, E. Rota, S. Calandra, R. Genova, A. Tamborino
- MedicineEuropean journal of clinical investigation
- 1 December 1977
Changes in serum lipoproteins studied in twelve patients with untreated uncomplicated nephrotic syndrome were strictly correlated with the concentration of serum albumin and were more pronounced in the patients with serumalbumin < 20 g l‐1.
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
No major novel locus for FH was detected, with no gene having a functional variant in more than three patients; however, an excess of novel variants was found in 18 genes, which suggests that the genetic cause of FH in these unexplained cases is likely to be very heterogeneous, which complicates the diagnostic and novel gene discovery process.