publication . Conference object . 2013

Duodenal Cytochrome B and Hephaestin Expression is Regulated by the Soluble HFE Isoform

Silva, Bruno; Martins, Rute; Proença, Daniela; Paula Faustino;
  • Published: 01 Apr 2013
  • Country: Portugal
Abstract
INTRODUCTION: Hereditary Hemochromatosis is an autosomal recessive disorder characterized by excessive intestinal iron absorption and iron deposition in organs such as liver, heart and pancreas, potentially leading to cirrhosis, hepatocelular carcinoma, diabetes, cardiac failure and arthritis. This disorder is mainly due to mutations in HFE gene. HFE protein associates with beta-2 microglobulin (B2M) for trafficking to the cell surface. However, the HFE’s role on iron homeostasis is not completely cleared. It may regulate hepcidin expression in the liver and iron trafficking in the duodenum. Several HFE alternative splicing transcripts have been reported, but th...
Subjects
free text keywords: Metabolismo do Ferro, HFE, Isoforma, Doenças Genéticas
Funded by
FCT| PTDC/SAU-GMG/64494/2006
Project
PTDC/SAU-GMG/64494/2006
Study of post-transcriptional regulation of HFE gene expression - a contribution to understand its role in iron homeostasis and in Hereditary Hemochromatosis development
  • Funder: Fundação para a Ciência e a Tecnologia, I.P. (FCT)
  • Project Code: 64494
  • Funding stream: 3599-PPCDT
,
FCT| SFRH/BD/60718/2009
Project
SFRH/BD/60718/2009
THE FUNCTIONAL LINK BETWEEN HFE AND HEPCIDIN - ITS CONTRIBUTION TO IRON METABOLISM REGULATION
  • Funder: Fundação para a Ciência e a Tecnologia, I.P. (FCT)
  • Project Code: SFRH/BD/60718/2009
  • Funding stream: SFRH | Doutoramento
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publication . Conference object . 2013

Duodenal Cytochrome B and Hephaestin Expression is Regulated by the Soluble HFE Isoform

Silva, Bruno; Martins, Rute; Proença, Daniela; Paula Faustino;