The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
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DNA sequence and analysis of human chromosome 9The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesisImmunization with amyloid-beta attenuates inclusion body myositis-like myopathology and motor impairment in a transgenic mouse modelAutoimmune Myopathies: Where Do We Stand?Insights into muscle degeneration from heritable inclusion body myopathiesNew insights into human minimal change disease: lessons from animal modelsGNE is involved in the early development of skeletal and cardiac muscleCrystal Structure of the N-Acetylmannosamine Kinase Domain of GNECrystal Structures of N -Acetylmannosamine Kinase Provide Insights into Enzyme Activity and InhibitionADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathyA novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigreesHereditary 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-acetylmannosamineThe proteomic profile of hereditary inclusion body myopathyDomain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinaseMetabolic manipulation of glycosylation disorders in humans and animal modelsInclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinAberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studyUDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzleNationwide patient registry for GNE myopathy in JapanInherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defectsGanglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.GNE myopathy: new name and new mutation nomenclature.Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.Limb-girdle Muscular Dystrophies in India: A Review.Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathySialylation is essential for early development in mice.Update and perspectives on congenital disorders of glycosylation.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.Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model miceMutation update for GNE gene variants associated with GNE myopathy.
P2860
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P2860
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@ast
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@en
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@nl
type
label
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@ast
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@en
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@nl
prefLabel
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@ast
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@en
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@nl
P2093
P3181
P356
P1433
P1476
The UDP-N-acetylglucosamine 2- ...... ditary inclusion body myopathy
@en
P2093
A Friedmann
G Grabov-Nardini
I Eisenberg
I Shmilevich
J S Beckmann
L Baumbach
P2888
P3181
P356
10.1038/NG718
P407
P577
2001-09-01T00:00:00Z