{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["180(4)"],"submitter":["Kakani S"],"funding":["Intramural NIH HHS"],"pubmed_abstract":["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 normally"],"journal":["The American journal of pathology"],"pagination":["1431-40"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3349896"],"repository":["biostudies-literature"],"pubmed_title":["The Gne M712T mouse as a model for human glomerulopathy."],"pmcid":["PMC3349896"],"pubmed_authors":["Manoli I","Hoogstraten-Miller S","Poling J","Gahl WA","Tian E","Kopp JB","Kakani S","Ciccone C","Yardeni T","Huizing M","Zerfas P","Klootwijk ED","Niethamer T","Darvish D","Ten Hagen KG"],"additional_accession":[]},"is_claimable":false,"name":"The Gne M712T mouse as a model for human glomerulopathy.","description":"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 normally","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Apr","modification":"2026-04-28T21:22:01.151Z","creation":"2025-06-27T03:05:53.686Z"},"accession":"S-EPMC3349896","cross_references":{"pubmed":["22322304"],"doi":["10.1016/j.ajpath.2011.12.023"]}}