Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
about
Hereditary inclusion body myopathy: a decade of progressNon-specific accumulation of glycosphingolipids in GNE myopathyMutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamineMetabolic manipulation of glycosylation disorders in humans and animal modelsAberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studyGanglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.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.Mutation update for GNE gene variants associated with GNE myopathy.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.Genetics of GNE myopathy in the non-Jewish Persian populationSialic acid utilization.Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.Hereditary Inclusion Body Myopathy (HIBM2)Two recurrent mutations are associated with GNE myopathy in the North of Britain.CDG Therapies: From Bench to Bedside.
P2860
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P2860
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Use of a cell-free system to d ...... itary inclusion body myopathy.
@ast
Use of a cell-free system to d ...... itary inclusion body myopathy.
@en
Use of a cell-free system to d ...... itary inclusion body myopathy.
@nl
type
label
Use of a cell-free system to d ...... itary inclusion body myopathy.
@ast
Use of a cell-free system to d ...... itary inclusion body myopathy.
@en
Use of a cell-free system to d ...... itary inclusion body myopathy.
@nl
prefLabel
Use of a cell-free system to d ...... itary inclusion body myopathy.
@ast
Use of a cell-free system to d ...... itary inclusion body myopathy.
@en
Use of a cell-free system to d ...... itary inclusion body myopathy.
@nl
P2093
P356
P1433
P1476
Use of a cell-free system to d ...... itary inclusion body myopathy.
@en
P2093
Carla Ciccone
Donna M Krasnewich
Eduard Orvisky
Marinos C Dalakas
Marjan Huizing
Molly Lalor
Paul J Savelkoul
Riko Klootwijk
Susan E Sparks
William A Gahl
P304
P356
10.1093/GLYCOB/CWI100
P577
2005-06-29T00:00:00Z