Sizing up sialic acid in glomerular disease
Open accessAbstract
A new study by Galeano and colleagues in this issue of the JCI reports the first glomerular disease caused by a genetic defect in sialic acid biosynthesis (see the related article beginning on page 1585). Mice that harbor mutations in the Gne/Mnk gene produce lower amounts of sialic acid, suffer from hematuria, proteinuria, and structural defects in the glomerulus and die within days after birth. Remarkably, the lesion can be reversed through dietary addition of N-acetylmannosamine, a sialic acid precursor, raising the intriguing possibility that this approach might have therapeutic benefit in patients with glomerular disease.
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“Pathological or experimental damage to such glycans causes large molecules like albumin to escape into the urine, and is associated with glomerular diseases (478, (485) (486) (487) (488) (489) (490) (491) .”
BackgroundSystemic Blockade of Sialylation in Mice with a Global Inhibitor of Sialyltransferases
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- Authors
- Quaggin, S. E.
- Affiliations
- Mount Sinai Hospital (CA)
- Corresponding author
- Quaggin, Susan E.
- ORCID
- Quaggin, Susan E.
- Venue
- Journal of Clinical Investigation
- Published
- 2007-06-01
- Volume
- 117
- Issue
- 6
- Pages
- 1480-1483
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC1878540
- OpenAlex
- W2028683699
- Cited by
- 23
- References
- 30
- Citations by year
- 2025: 2 · 2022: 1 · 2021: 3 · 2020: 1 · 2019: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 1 · 2012: 3
- FWCI
- 0.66
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Kidney Foundation of Canada (16002)
- Canadian Institutes of Health Research (16002)
- National Cancer Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Glycosylation and Glycoproteins Research
- Health Sciences › Medicine › Nephrology › Renal Diseases and Glomerulopathies
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- sialic acid biosynthesis, glomerular disease, genetic disorders, hematuria, proteinuria, N-acetylmannosamine, dietary supplementation
- MeSH terms
- Animals, Disease Models, Animal, Female, Hexosamines, Humans, Kidney Diseases, Kidney Glomerulus, Mice, Mutant Strains, Models, Biological, Multienzyme Complexes, Pregnancy, N-Acetylneuraminic Acid, Mice
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