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Susan E. Quaggin
Published June 1, 2007
Citation Information: J Clin Invest. 2007;117(6):1480-1483. https://doi.org/10.1172/JCI32482.
Citation Information: J Clin Invest. 2007;117(6):1480-1483. https://doi.org/10.1172/JCI32482.
Abstract
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.
Authors
Susan E. Quaggin
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Citation information
Citations to this article (12)
| Title and authors | Publication | Year |
|---|---|---|
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Smith DW, Azadi A, Lee CJ, Gardiner BS |
Tissue Barriers | 2022 |
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Changes in the Expression of Renal Brush Border Membrane N-Glycome in Model Rats with Chronic Kidney Diseases
A Yu, J Zhao, SP Yadav, BA Molitoris, MC Wagner, Y Mechref |
Biomolecules | 2021 |
|
Elevated Plasma Free Sialic Acid Levels in Individuals with Reduced Glomerular Filtration Rates
F Fuentes, N Carrillo, KJ Wilkins, J Blake, P Leoyklang, WA Gahl, JB Kopp, M Huizing |
2020 | |
|
Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases
M Huizing, T Yardeni, F Fuentes, MC Malicdan, P Leoyklang, A Volkov, B Dekel, E Brede, J Blake, A Powell, H Chatrathi, Y Anikster, N Carrillo, WA Gahl, JB Kopp |
Kidney International Reports | 2019 |
|
Biological roles of glycans
A Varki |
Glycobiology | 2016 |
|
Systemic Blockade of Sialylation in Mice with a Global Inhibitor of Sialyltransferases
MS Macauley, BM Arlian, CD Rillahan, PC Pang, N Bortell, MC Marcondes, SM Haslam, A Dell, JC Paulson |
The Journal of biological chemistry | 2014 |
|
The Gne M712T Mouse as a Model for Human Glomerulopathy
S Kakani, T Yardeni, J Poling, C Ciccone, T Niethamer, ED Klootwijk, I Manoli, D Darvish, S Hoogstraten-Miller, P Zerfas, E Tian, KG Hagen, JB Kopp, WA Gahl, M Huizing |
The American Journal of Pathology | 2012 |
|
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy
TK Niethamer, T Yardeni, P Leoyklang, C Ciccone, A Astiz-Martinez, K Jacobs, HM Dorward, PM Zerfas, WA Gahl, M Huizing |
Molecular Genetics and Metabolism | 2012 |
|
Sepsis induces albuminuria and alterations in the glomerular filtration barrier: a morphofunctional study in the rat
C Adembri, E Sgambati, L Vitali, V Selmi, M Margheri, A Tani, L Bonaccini, D Nosi, AL Caldini, L Formigli, AR de Gaudio |
Critical Care | 2011 |
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Hereditary Inclusion Body Myopathy: A decade of progress
M Huizing, DM Krasnewich |
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2009 |
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Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2)
Jay C, Nemunaitis G, Nemunaitis J, Senzer N, Hinderlich S, Darvish D, Ogden J, Eager J, Tong A, Maples PB |
Gene regulation and systems biology | 2008 |
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Proteinuria: is it all in the foot?
Pierre Ronco |
Journal of Clinical Investigation | 2007 |
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