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+ | ====== Grant Award 017 ====== | ||
+ | __Principal investigator__: | ||
+ | __Abbreviated Title of Research Proposal__: In vitro and in vivo models for HIBM | ||
+ | **Project Summary: | ||
+ | |||
+ | In order to understand the pivotal role of GNE in the onset and progression of HIBM, we will introduce the most prominent human mutations identified in the GNE gene of HIBM patients in already available murine GNE-deficient embryonic stem cells. These cells will be analyzed morphologically and biochemically and will be further used to generate transgenic mice with GNE mutations in an endogenous GNE-free in vivo system. | ||
+ | In addition, we will generate a mouse where the GNE gene could be switched off only in muscle tissue. | ||
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+ | We anticipate that these studies will contribute to unravel the function of GNE and sialic acid metabolism in particular in muscle cells and reveal possible pathogenic mechanisms leading to HIBM. In addition, this animal model could be used for the assessment of therapeutic approaches. |