This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. Dr. Huizing's laboratory is studying a mouse model with a knock-in mutation in the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. They created the mouse to mimic the human muscular dystrophy HIBM (Hereditary Inclusion Body Myopathy). The mutant mice died before 3 days of life from severe kidney disease due to hyposialylation. Interestingly, feeding these mice the sialic acid precursor ManNAc recovered sialylation and increased survival of mutants beyond 3 days of life. Dr. Huizing is interested in knowing a whole glycan profile of wild type vs mutant kidneys by mass spectrometry and then the same after ManNAc treatment.
Showing the most recent 10 out of 104 publications