The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.
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GNE is involved in the early development of skeletal and cardiac muscleCrystal Structures of N -Acetylmannosamine Kinase Provide Insights into Enzyme Activity and InhibitionHereditary inclusion body myopathy: a decade of progressMutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamineAberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.Preclinical assessment of wt GNE gene plasmid for management of hereditary inclusion body myopathy 2 (HIBM2)Intravenous 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?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 interactionsUDP-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 miceMutation update for GNE gene variants associated with GNE myopathy.A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteinsPeracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathyThe systems biology of glycosylation.Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse modelGenetics of GNE myopathy in the non-Jewish Persian populationThe hereditary inclusion body myopathy enigma and its future therapy.Safety and in vivo expression of a GNE-transgene: a novel treatment approach for hereditary inclusion body myopathy-2.Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing.Hereditary Inclusion Body Myopathy (HIBM2)GNE myopathy: a personal trip from bedside observation to therapeutic trials.Gne depletion during zebrafish development impairs skeletal muscle structure and function.Variable phenotypes of knockin mice carrying the M712T Gne mutation.The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.CDG Therapies: From Bench to Bedside.Efficient metabolic oligosaccharide engineering of glycoproteins by UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) knock-down.Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings.Function and Mutations of the GNE Gene Leading to Distal Myopathy with Rimmed Vacuoles/Hereditary Inclusion-Body Myopathy, Animal Models, and Potential Treatment
P2860
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P2860
The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
The homozygous M712T mutation ...... itary inclusion body myopathy.
@en
type
label
The homozygous M712T mutation ...... itary inclusion body myopathy.
@en
prefLabel
The homozygous M712T mutation ...... itary inclusion body myopathy.
@en
P2093
P2860
P1433
P1476
The homozygous M712T mutation ...... itary inclusion body myopathy.
@en
P2093
Ilan Salama
Iris Eisenberg
Kevin J Yarema
Lars R Mantey
Menachem Sadeh
Rüdiger Horstkorte
Stella Mitrani-Rosenbaum
Stephan Hinderlich
Tamara Potikha
Werner Reutter
P2860
P304
P356
10.1016/J.FEBSLET.2004.04.013
P407
P577
2004-05-01T00:00:00Z