Article
Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses.
BMC cell biology - 24 Jul 2007
Lawless Matthew W, Mankan Arun K, White Mary, O'Dwyer Michael J, Norris Suzanne
Abstract excerpt
BACKGROUND: Hereditary Hemochromatosis (HH) is a genetic disease associated with iron overload, in which individuals homozygous for the mutant C282Y HFE associated allele are at risk for the development of a range of disorders particularly liver disease. Conformational diseases are a class of disorders associated with the expression of misfolded protein. HFE C282Y is a mutant protein that does not fold correctly...
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