Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine (Q28305085)

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Irini Manoli

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MaoSen Sun

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Carla Ciccone

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Daniel Darvish

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Matthew F Starost

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Patricia M Zerfas

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Victoria J Hoffmann

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Shelley Hoogstraten-Miller

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Donna M Krasnewich

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William A Gahl

Journal of Clinical Investigation

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language of work or name

English

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publication date

June 2007

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published in

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volume

117

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issue

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page(s)

1585-94

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cites work

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29 September 2017

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29 September 2017

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Administration of N-Acetyl-D-mannosamine to Mammals

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2 June 2018

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27 November 2018

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The intracellular concentration of sialic acid regulates the polysialylation of the neural cell adhesion molecule

27 November 2018

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27 November 2018

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27 November 2018

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A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins

27 November 2018

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Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles

27 November 2018

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Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

27 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1878529

Biosynthetic incorporation of unnatural sialic acids into polysialic acid on neural cells

27 November 2018

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Purification and characterization of N-acetylglucosamine kinase from rat liver--comparison with UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1878529

In vivo enzymatic removal of alpha 2-->6-linked sialic acid from the glomerular filtration barrier results in podocyte charge alteration and glomerular injury

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1878529

Red cell traverse through thin glomerular basement membranes

27 November 2018

1 reference

12 December 2020

Morphological insights into the origin of glomerular endothelial and mesangial cells and their precursors

1 reference

12 December 2020

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

1 reference

12 December 2020

Alterations of the glomerular epithelium in acute aminonucleoside nephrosis. Evidence for formation of occluding junctions and epithelial cell detachment

1 reference

12 December 2020

Glomerular epithelial alterations resulting from sialic acid surface coat removal

1 reference

12 December 2020

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

1 reference

12 December 2020

Involvement of mesangial cells expressing alpha-smooth muscle actin during restorative glomerular remodeling in Thy-1.1 nephritis

1 reference

12 December 2020

The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI30954

1 reference

1 reference

1 reference

PubMed publication ID

17549255

1 reference