Results 31 to 40 of about 4,568 (194)
IEEE Access, 2021 Microservice-based systems promote agility and rapid business development. Some features, such as fast time-to-market, scalability and optimal response times, have encouraged stakeholders to get more involved in the development and implementation of ...
Gaston Marquez +4 more
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Mutation Update forGNEGene Variants Associated with GNE Myopathy [PDF]
Human Mutation, 2014 The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not
Frank V, Celeste +9 more
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UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]
PLoS ONE, 2008 BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili +7 more
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An IMS LD Graphic Editor using the graphs representation for modifying the course structures
Journal of Interactive Media in Education, 2005 Commentary on: Chapter 20: Delivery of Learning Design: the Explor@ System?s Case. (Paquette, Marino, De la Teja, Léonard, & Lundgren-Cayrol, 2005) Abstract: We developed a Web portal, named netUniversité, that enables the teachers to create their ...
Ecaterina Giacomini Pacurar +2 more
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Sialylation and muscle performance: sialic acid is a marker of muscle ageing.
PLoS ONE, 2013 Sialic acids (Sia) are widely expressed as terminal monosaccharides on eukaryotic glycoconjugates. They are involved in many cellular functions, such as cell-cell interaction and signal recognition.
Frank Hanisch +8 more
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Altered Actin Dynamics in Cell Migration of GNE Mutant Cells
Frontiers in Cell and Developmental Biology, 2021 Cell migration is an essential cellular process that requires coordination of cytoskeletal dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in maintaining the cellular structure as well as regulating the mechanisms of ...
Shamulailatpam Shreedarshanee Devi +2 more
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Aberrant O‐Glc
The FEBS Journal, 2016 UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) is the key enzyme for the biosynthesis of sialic acids. Sialic acids are terminal monosaccharides of glycoconjugates and gangliosides, which have an essential influence on various cell interactions.
Dorit, Bennmann +4 more
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A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene.
Liang WANG +7 more
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Scientific Reports, 2022 GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A>T encoding p.
Wakako Yoshioka +16 more
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Identification of a
Journal of Cellular and Molecular Medicine, 2018 AbstractGNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase gene (GNE).
Yuan Wu +10 more
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