A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
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Immunization with amyloid-beta attenuates inclusion body myositis-like myopathology and motor impairment in a transgenic mouse modelNew insights into human minimal change disease: lessons from animal modelsThe ER-bound RING finger protein 5 (RNF5/RMA1) causes degenerative myopathy in transgenic mice and is deregulated in inclusion body myositisHereditary inclusion body myopathy: a decade of progressNon-specific accumulation of glycosphingolipids in GNE myopathyThe proteomic profile of hereditary inclusion body myopathyMetabolic manipulation of glycosylation disorders in humans and animal modelsPreclinical assessment of wt GNE gene plasmid for management of hereditary inclusion body myopathy 2 (HIBM2)Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzleGanglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.New diagnostic index for sarcopenia in patients with cardiovascular diseasesEffects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactionsGlycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice.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 miceAquaporin-4 expression in distal myopathy with rimmed vacuoles.A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.Cell stress molecules in the skeletal muscle of GNE myopathy.Scientific literature on monosialoganglioside in the Science Citation Index-Expanded: A bibliometric analysis of articles from 1942 to 2011 by each decadePeracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathyActivation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.Deficits in sialylation impair podocyte maturation.Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse modelClinical 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.Unfolded protein response and activated degradative pathways regulation in GNE myopathy.Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapySialic acids in human health and disease.The 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.Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis."Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular DisordersMutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.[GNE myopathy].Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy.Gne depletion during zebrafish development impairs skeletal muscle structure and function.Variable phenotypes of knockin mice carrying the M712T Gne mutation.
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A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
description
im Juni 2007 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 18 August 2007
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 2007
@uk
name
A Gne knockout mouse expressin ...... ditary inclusion body myopathy
@en
A Gne knockout mouse expressin ...... ditary inclusion body myopathy
@nl
type
label
A Gne knockout mouse expressin ...... ditary inclusion body myopathy
@en
A Gne knockout mouse expressin ...... ditary inclusion body myopathy
@nl
prefLabel
A Gne knockout mouse expressin ...... ditary inclusion body myopathy
@en
A Gne knockout mouse expressin ...... ditary inclusion body myopathy
@nl
P2093
P356
P1476
A Gne knockout mouse expressin ...... ditary inclusion body myopathy
@en
P2093
Ikuya Nonaka
May Christine V Malicdan
Satoru Noguchi
Yukiko K Hayashi
P304
P356
10.1093/HMG/DDM220
P577
2007-08-18T00:00:00Z