Results 31 to 40 of about 4,046 (167)
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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Microbiology Spectrum, 2023 Replication of influenza A virus (IAV) is highly reliant on host cell function, and to identify the key host factor required in the influenza A virus life cycle, a genome-wide CRISPR/Cas9 knockout (KO) screen was conducted in A549 cells infected by H1N1 ...
Tianxin Ma +17 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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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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Fighting the Cause of Alzheimer’s and GNE Myopathy [PDF]
Frontiers in Neuroscience, 2018 Age is the common risk factor for both neurodegenerative and neuromuscular diseases. Alzheimer disease (AD), a neurodegenerative disorder, causes dementia with age progression while GNE myopathy (GNEM), a neuromuscular disorder, causes muscle degeneration and loss of muscle motor movement with age.
Shreedarshanee Devi +3 more
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Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort
Open Medicine, 2021 GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort.
Attri Shivangi +4 more
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Autophagy in GNE Myopathy [PDF]
, 2013 Muscle diseases represent specific muscle pathology. The characteristic features as hallmarks of diseases have been historically used to diagnose the patients. The “Rimmed vacuole (RV)” (Figures 1) is one of such characteristic features in certain groups of the diseases.
Anna Cho, Satoru Noguchi
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IEEE AccessRailway systems are increasingly digitalized and interconnected, making cybersecurity a safety-relevant concern in safety-critical cyber–physical operations.
Yasmine Benghename +2 more
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