biostudies-literatureUnknown180(4)Kakani SIntramural NIH HHSPathological glomerular hyposialylation has been implicated in certain unexplained glomerulopathies, including minimal change nephrosis, membranous glomerulonephritis, and IgA nephropathy. We studied our previously established mouse model carrying a homozygous mutation in the key enzyme of sialic acid biosynthesis, N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Mutant mice died before postnatal day 3 (P3) from severe glomerulopathy with podocyte effacement and segmental glomerular basement membrane splitting due to hyposialylation. Administration of the sialic acid precursor N-acetylmannosamine (ManNAc) led to improved sialylation and survival of mutant pups beyond P3. We determined the onset of the glomerulopathy in the embryonic stage. A lectin panel, distinguishing normallyThe American journal of pathology1431-40https://www.ebi.ac.uk/biostudies/studies/S-EPMC3349896biostudies-literatureThe Gne M712T mouse as a model for human glomerulopathy.PMC3349896Manoli IHoogstraten-Miller SPoling JGahl WATian EKopp JBKakani SCiccone CYardeni THuizing MZerfas PKlootwijk EDNiethamer TDarvish DTen Hagen KGfalseThe Gne M712T mouse as a model for human glomerulopathy.Pathological glomerular hyposialylation has been implicated in certain unexplained glomerulopathies, including minimal change nephrosis, membranous glomerulonephritis, and IgA nephropathy. We studied our previously established mouse model carrying a homozygous mutation in the key enzyme of sialic acid biosynthesis, N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Mutant mice died before postnatal day 3 (P3) from severe glomerulopathy with podocyte effacement and segmental glomerular basement membrane splitting due to hyposialylation. Administration of the sialic acid precursor N-acetylmannosamine (ManNAc) led to improved sialylation and survival of mutant pups beyond P3. We determined the onset of the glomerulopathy in the embryonic stage. A lectin panel, distinguishing normally2012-01-01T00:00:00Z2012 Apr2026-04-28T21:22:01.151Z2025-06-27T03:05:53.686ZS-EPMC33498962232230410.1016/j.ajpath.2011.12.023