Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q28305085

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Targeting Selectins and Their Ligands in Cancer Podocytes Podocyte pathology and nephropathy - sphingolipids in glomerular diseases New insights into human minimal change disease: lessons from animal models Cell biology and pathology of podocytes Structural basis for sialic acid-mediated self-recognition by complement factor H Update on the glomerular filtration barrier Hereditary inclusion body myopathy: a decade of progress Non-specific accumulation of glycosphingolipids in GNE myopathy Swimming exercise prevents fibrogenesis in chronic kidney disease by inhibiting the myofibroblast transdifferentiation Glomerular CD34 expression in short- and long-term diabetes Phosphorylation of podocalyxin (Ser415) Prevents RhoA and ezrin activation and disrupts its interaction with the actin cytoskeleton.Preclinical assessment of wt GNE gene plasmid for management of hereditary inclusion body myopathy 2 (HIBM2)Complement-mediated injury and protection of endothelium: lessons from atypical haemolytic uraemic syndrome Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions Proteinuria: an enzymatic disease of the podocyte?Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice.Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice Neurology of inherited glycosylation disorders.A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.Podocyte-secreted angiopoietin-like-4 mediates proteinuria in glucocorticoid-sensitive nephrotic syndrome.Systemic blockade of sialylation in mice with a global inhibitor of sialyltransferases.Progesterone receptor-mediated regulation of N-acetylneuraminate pyruvate lyase (NPL) in mouse uterine luminal epithelium and nonessential role of NPL in uterine function Lipid biology of the podocyte--new perspectives offer new opportunities.Glycosylation of immunoglobulin G determines osteoclast differentiation and bone loss GNE myopathy: current update and future therapy.Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy Sizing up sialic acid in glomerular disease The Gne M712T mouse as a model for human glomerulopathy.Sepsis induces albuminuria and alterations in the glomerular filtration barrier: a morphofunctional study in the rat.Metabolic flux increases glycoprotein sialylation: implications for cell adhesion and cancer metastasis.Deficits in sialylation impair podocyte maturation.Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.Current concepts of the podocyte in nephrotic syndrome.

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P2860

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

http://www.wikidata.org/entity/Q28305085

description

2007 nî lūn-bûn

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2007 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2007 թվականի հունիսին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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P2860

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Journal of Clinical Investigation

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Mutation in the key enzyme of ...... rescued by N-acetylmannosamine

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P2093

Belinda Galeano

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Carla Ciccone

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Daniel Darvish

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Donna M Krasnewich

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Irini Manoli

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MaoSen Sun

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Matthew F Starost

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Patricia M Zerfas

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Riko Klootwijk

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Shelley Hoogstraten-Miller

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P2860

UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation

Molecular cloning and characterization of human podocalyxin-like protein. Orthologous relationship to rabbit PCLP1 and rat podocalyxin

A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence

Loss of glomerular foot processes is associated with uncoupling of podocalyxin from the actin cytoskeleton

Anuria, omphalocele, and perinatal lethality in mice lacking the CD34-related protein podocalyxin

Cre recombinase: the universal reagent for genome tailoring

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Identification of the metabolic defect in sialuria

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1585-94

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2245927

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10.1172/JCI30954

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6

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117

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17549255

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1878529

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