20 Numerous regulatory mechanisms involving negative feedback by bile acids have also been described for CYP27A1. 24–26 In a preliminary study from our laboratory, no clear effect on hepatic messenger ...

Conclusion: The compound heterozygous variants c.379C > T (p. Arg127Trp) and c.397 T > C (p. Trp133Arg) in the CYP27A1 gene are likely the cause of CTX in this pedigree. This finding expands our ...

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. GTC seizures and parkinsonism are the initial ...

Figure 1: Steady-state mRNA levels of genes that are regulated by Tcf1. Figure 4: Bile acid concentrations are increased in the serum, stool and urine of Tcf1 −/− mice. Figure 5: Tcf1 is a ...

Endothelial cell-specific loss of TGF-beta signaling in mice leads to CNS vascular defects, specifically impairing retinal development and promoting immune cell infiltration. The data are solid, ...

The liver is the site of first pass metabolism, detoxifying and metabolizing blood arriving from the hepatic portal vein and hepatic artery. It is made up of multiple cell types, including macrophages ...

Max Planck Research Unit for Enzymology of Protein Folding, Weinbergweg 22, D-06120 Halle/Saale, Germany * To whom correspondence should be addressed: Weinbergweg 22, D-06120 Halle/Saale, Germany.

9 Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Receptology and Enteroendocrinology, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark ...

§ Faculty of Agriculture,Niigata University, 8050 Ikarashi 2-no-cho, Nishi-ku, Niigata 950-2181, Japan # Obihiro University of Agriculture and Veterinary Medicine, Inada-cho, Obihiro, Hokkaido ...