Article
Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.
Human molecular genetics - 15 Oct 2013
Kemter Elisabeth, Prueckl Petra, Sklenak Stefanie, Rathkolb Birgit, Habermann Felix A, Hans Wolfgang, Gailus-Durner Valérie, Fuchs Helmut, Hrabě de Angelis Martin, Wolf Eckhard, Aigner Bernhard, Wanke Ruediger
Abstract excerpt
Uromodulin-associated kidney disease (UAKD) is a dominant heritable renal disease in humans which is caused by mutations in the uromodulin (UMOD) gene and characterized by heterogeneous clinical appearance. To get insights into possible causes of this heterogeneity of UAKD, we describe the new mutant mouse line Umod(C93F), leading to disruption of a putative disulfide bond which is also absent in a known human...
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