publication . Conference object . 2012

A soluble HFE splice variant seems to regulate the expression of duodenal cytochrome b and hephaestin contributing to iron metabolism regulation

Silva, Bruno; Martins, Rute; Proença, Daniela; Paula Faustino;
  • Published: 01 Nov 2012
  • Country: Portugal
Abstract
INTRODUCTION: Hereditary Hemochromatosis is an autosomal recessive disorder characterized by excessive intestinal iron absorption and pathological iron deposition in organs such as liver, heart and pancreas. The disease is predominantly caused by homozygosity for the p.C282Y mutation in HFE, which impairs protein association with its chaperone beta-2 microglobulin (B2M), for correct folding and traffic to the cell surface. Several alternative HFE transcripts have been reported but their functional significance remains elusive. Since we have identified an alternative HFE transcript due to intron 4 inclusion, we aimed to investigate its physiological role on iron ...
Subjects
free text keywords: HFE, Hereditary Hemochromatosis, Iron Metabolism, 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 . 2012

A soluble HFE splice variant seems to regulate the expression of duodenal cytochrome b and hephaestin contributing to iron metabolism regulation

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