Jinxing Jiang

TL;DR: The knockout mouse model of HH will facilitate investigation into the pathogenesis of increased iron accumulation in HH and provide opportunities to evaluate therapeutic strategies for prevention or correction of iron overload.

TL;DR: In this article, the effects of a targeted disruption of the murine homologue of the HFE gene were studied in a mouse model of hereditary hemochromatosis and it was shown that mutations in this gene are responsible for increased iron accumulation.

TL;DR: The hypothesis that HFE-/- mice have increased duodenal expression of the divalent metal transporter (DMT1) is tested and support the model for HH in which HFE mutations lead to inappropriately low crypt cell iron, with resultant stabilization of DMT1(IRE) mRNA, up-regulation of DFT, and increased absorption of dietary iron.

TL;DR: It is demonstrated here that the mutant mice bearing the active site mutant human transgene retain the clinical, morphological, biochemical, and histopathological characteristics of the original MPS VII (gusmps/mps) mouse, but are now tolerant to immune challenge with human β-glucuronidase.

TL;DR: These transgenic models show that massive overexpression of a lysosomal enzyme can be associated with dramatic morphological alterations, which, at least in one of the two lines, had little clinical consequence.