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Journal articles on the topic 'GNE'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Gidaro, T., D. Duchene, G. Ollivier, et al. "Longitudinal study for GNE gene (ClinBio-GNE)." Neuromuscular Disorders 25 (October 2015): S281. http://dx.doi.org/10.1016/j.nmd.2015.06.342.

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2

Dutchak, Anastasiia, Oleksandr Kornutii, and Maya Bondarenko. "GNE- MYOPATHY WITH A HOMOZYGOUS MUTATION OF A 48-YEAR-OLD UKRAINIAN WOMAN." Annali d'Italia 61 (November 27, 2024): 63–65. https://doi.org/10.5281/zenodo.14230854.

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Nonaka myopathy is a rare autosomal recessive genetic disorder characterized by progressive degeneration of distal muscles, leading to muscle weakness. The disease is caused by mutations in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. This study was conducted to clarify the clinical diagnosis and assess the risk of neurological disease occurrence in the patient's offspring. A missense mutation c.1985C<T (p.Ala662Val) in the GNE gene was identified in exon 11 in a homozygous state through panel sequencing.

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3

Mitrani-Rosenbaum, Stella, Lena Yakovlev, Michal Becker Cohen, Zohar Argov, Yakov Fellig, and Avi Harazi. "Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy." Journal of Neuromuscular Diseases 9, no. 1 (2022): 179–92. http://dx.doi.org/10.3233/jnd-210755.

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Background: GNE myopathy is a unique adult onset rare neuromuscular disease caused by recessive mutations in the GNE gene. The pathophysiological mechanism of this disorder is not well understood and to date, there is no available therapy for this debilitating disease. We have previously established proof of concept that AAV based gene therapy can effectively deliver the wild type human GNE into cultured muscle cells from human patients and in mice, using a CMV promoter driven human wild type GNE plasmid delivered through an adeno associated virus (AAV8) based platform. Objective: In the prese

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4

Jang, Jessica, Marjan Huizing, Andrea Bowling, et al. "eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy." Genetics in Medicine 24, no. 3 (2022): S12. http://dx.doi.org/10.1016/j.gim.2022.01.055.

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5

Ishtiaq, Hina, Sonia Siddiqui, Rukhsana Nawaz, Muhammad Ashraf Hussain, Fauzia Imtiaz, and Zeba Haque. "The Identification of Sialuria with Different Degrees of Intellectual Disabilities in Children and Adolescents." Annals of Psychophysiology 8, no. 2 (2021): 86–95. http://dx.doi.org/10.29052/2412-3188.v8.i2.2021.86-95.

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Background: Single nucleotide polymorphism/mutation in the R263L region of the allosteric site of the GNE gene produces a phenotype with an overproduction of intracellular levels of sialic acid and causes sialuria. In sialuria, a defective GNE gene, synthesized with lost feedback inhibition mechanism, produces many developmental delays and varying degrees of intellectual disabilities in children and adolescents. Several mutations in the epimerase and kinase domains exist that cause difficulty in getting a precise and exact effect of the GNE gene on the disease severity and sialic acid levels.

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Canals, Rocío, Natalia Jiménez, Silvia Vilches, Miguel Regué, Susana Merino, and Juan M. Tomás. "The UDP N-Acetylgalactosamine 4-Epimerase Gene Is Essential for Mesophilic Aeromonas hydrophila Serotype O34 Virulence." Infection and Immunity 74, no. 1 (2006): 537–48. http://dx.doi.org/10.1128/iai.74.1.537-548.2006.

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ABSTRACT Mesophilic Aeromonas hydrophila strains of serotype O34 typically express smooth lipopolysaccharide (LPS) on their surface. A single mutation in the gene that codes for UDP N-acetylgalactosamine 4-epimerase (gne) confers the O− phenotype (LPS without O-antigen molecules) on a strain in serotypes O18 and O34, but not in serotypes O1 and O2. The gne gene is present in all the mesophilic Aeromonas strains tested. No changes were observed for the LPS core in a gne mutant from A. hydrophila strain AH-3 (serotype O34). O34 antigen LPS contains N-acetylgalactosamine, while no such sugar resi

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7

Urtizberea, J. Andoni, and Anthony Béhin. "Myopathie GNE." médecine/sciences 31 (November 2015): 20–27. http://dx.doi.org/10.1051/medsci/201531s306.

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8

Marion, Sylvie, Anthony Béhin, and Shahram Attarian. "Myopathie GNE :." médecine/sciences 33 (November 2017): 55–56. http://dx.doi.org/10.1051/medsci/201733s111.

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9

Moshkovitz, I., M. Becker-Cohen, I. Eisenberg, and S. Mitrani-Rosenbaum. "MicroRNA regulation of the GNE gene." Neuromuscular Disorders 26 (October 2016): S170—S171. http://dx.doi.org/10.1016/j.nmd.2016.06.307.

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10

Bengoechea, José Antonio, Elise Pinta, Tiina Salminen, et al. "Functional Characterization of Gne (UDP-N-Acetylglucosamine- 4-Epimerase), Wzz (Chain Length Determinant), and Wzy (O-Antigen Polymerase) of Yersinia enterocolitica Serotype O:8." Journal of Bacteriology 184, no. 15 (2002): 4277–87. http://dx.doi.org/10.1128/jb.184.15.4277-4287.2002.

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ABSTRACT The lipopolysaccharide (LPS) O-antigen of Yersinia enterocolitica serotype O:8 is formed by branched pentasaccharide repeat units that contain N-acetylgalactosamine (GalNAc), l-fucose (Fuc), d-galactose (Gal), d-mannose (Man), and 6-deoxy-d-gulose (6d-Gul). Its biosynthesis requires at least enzymes for the synthesis of each nucleoside diphosphate-activated sugar precursor; five glycosyltransferases, one for each sugar residue; a flippase (Wzx); and an O-antigen polymerase (Wzy). As this LPS shows a characteristic preferred O-antigen chain length, the presence of a chain length determ

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11

Sang, Xu, Yongping Zhang, Fang Fang, et al. "BRD4 Inhibitor GNE-987 Exerts Anticancer Effects by Targeting Super-Enhancer-Related Gene LYL1 in Acute Myeloid Leukemia." Journal of Immunology Research 2022 (August 1, 2022): 1–18. http://dx.doi.org/10.1155/2022/7912484.

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Background. AML (acute myeloid leukemia) is a common hematological malignancy in children with poor treatment effects and poor prognosis. Recent studies have shown that as a novel BRD4 (bromodomain containing 4) PROTACs (proteolysis targeting chimeras) degrader, GNE-987 can slow down the growth of various tumors and increase apoptosis, with promising clinical prospects. However, the function and molecular mechanism of GNE-987 in AML remain unclear. This study is aimed at investigating the therapeutic effect of GNE-987 on AML and its underlying mechanism. Methods. The association between BRD4 a

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12

Rump, Lydia V., Peter C. H. Feng, Markus Fischer, and Steven R. Monday. "Genetic Analysis for the Lack of Expression of the O157 Antigen in an O Rough:H7 Escherichia coli Strain." Applied and Environmental Microbiology 76, no. 3 (2009): 945–47. http://dx.doi.org/10.1128/aem.02046-09.

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ABSTRACT The O-antigen (rfb) operon and related genes of MA6, an O rough:H7 Shiga-toxigenic Escherichia coli strain, were examined to determine the cause of the lack of O157 expression. A 1,310-bp insertion, homologous to IS629, was observed within its gne gene. trans complementation with a functional gne gene from O157:H7 restored O157 antigen expression in MA6.

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13

Schultz, Jordan L. "4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease." Journal of Clinical and Translational Science 4, s1 (2020): 100. http://dx.doi.org/10.1017/cts.2020.310.

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OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not carry this genetic mutation (GNE group). METHODS/STUDY POPULATION: Subjects from the Kids-HD study in the GE group were divided into groups based on their estimated years to motor onset. Each subgroup was compared to the subjects from the GNE group. Additionally, a group of participants with juvenile HD were compared to the GNE group. These compar

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14

Rudenskaya, Galina E., Alena L. Chukhrova, and Oksana P. Ryzhkova. "GNE myopathy (Nonaka myopathy)." Annals of Clinical and Experimental Neurology 13, no. 4 (2019): 85–90. https://doi.org/10.25692/acen.2019.4.11.

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GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing to the proximal muscles, along with severe generalized myopathy and loss of ambulation usually occurring 1020 years after disease onset. Exomе sequencing methods have greatly increased the possibility of diagnosis of this and other rare hereditary diseases. A case of GNE myopathy with onset at 26 years of age and a prolonged search for a diagno

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15

Pogoryelova, Oksana, Ian J. Wilson, Hank Mansbach, Zohar Argov, Ichizo Nishino, and Hanns Lochmüller. "GNE genotype explains 20% of phenotypic variability in GNE myopathy." Neurology Genetics 5, no. 1 (2019): e308. http://dx.doi.org/10.1212/nxg.0000000000000308.

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ObjectiveTo test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries.MethodsSystematic literature review identified 11 articles reporting 759 patients. GNE registry data were used as a second data set. The relative contributions of the GNE mutations, homozygosity, and country to the age at onset were explored using linear modeling, and relative importance measures were calculated. The rate of ambulation loss for GNE mutations, homozygosity, country, and age at onset was analyzed using Cox proportional hazar

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16

Bennmann, Dorit, Wenke Weidemann, Annett Thate, Denise Kreuzmann, and Rüdiger Horstkorte. "Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy." FEBS Journal 283, no. 12 (2016): 2285–94. http://dx.doi.org/10.1111/febs.13729.

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17

Zieger, Barbara, Karin M. Hoffmeister, Alfred Leipold, Eva-Maria Kornemann, Miriam Erlacher, and Doris Boeckelmann. "Treatment and Follow-up Data for Young Patients with a Gne Defect and Congenital Thrombocytopenia." Blood 142, Supplement 1 (2023): 3963. http://dx.doi.org/10.1182/blood-2023-180620.

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Congenital thrombocytopenia can be associated not only with a reduced production, but also with an accelerated degradation of platelets. Sialic acid binds to platelet surface glycoproteins and protects platelets from degradation via the Ashwell-Morell receptor. The GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. According to OMIM alterations in GNE are autosomal recessive associated with adult-onset progressive GNE myopathy (with or without thrombocytopenia) and autosomal dominant with sialuria. In recent years,

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18

Pereira, Beatriz L., Mariana Barbosa, Pedro Granjo, Hanns Lochmüller, and Paula A. Videira. "Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy." Molecular Genetics and Metabolism 144, no. 4 (2025): 109075. https://doi.org/10.1016/j.ymgme.2025.109075.

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19

Diniz, Gulden, Yaprak Secil, Serdar Ceylaner, et al. "GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation." Case Reports in Neurological Medicine 2016 (2016): 1–4. http://dx.doi.org/10.1155/2016/8647645.

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Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age.Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weakness. The older sister presented at 38 years of age with an inability to climb steps, weakness, and a steppage gait. Her younger sister was 36 years old and had similar symptoms. The first symptoms of the

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20

Attri, Shivangi, Vikas Sharma, Amit Kumar, Chaitenya Verma, and Suresh Kumar Gahlawat. "Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort." Open Medicine 16, no. 1 (2021): 1733–44. http://dx.doi.org/10.1515/med-2021-0391.

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Abstract 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. However, the underlying role of this mutation in pathogenesis remains largely unknown. Thus, in this study, we aimed to access possible mechanisms of V727M mutation that could be leading to myopathy. We evaluated various in silico tools to predict the effect of this mutation on pathogenicity, structural or possible interactions, that could induce myopathy. Our results propose that V727M mutation

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21

Cho, A., Y. K. Hayashi, K. Monma, et al. "Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)." Journal of Neurology, Neurosurgery & Psychiatry 85, no. 8 (2013): 914–17. http://dx.doi.org/10.1136/jnnp-2013-305587.

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22

Pogoryelova, Oksana, Coraspe José Andrés González, Nikoletta Nikolenko, Hanns Lochmüller, and Andreas Roos. "GNE myopathy: from clinics and genetics to pathology and research strategies." Orphanet Journal of Rare Diseases 13, no. 1 (2018): 70. https://doi.org/10.1186/s13023-018-0802-x.

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GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved forward understanding of GNE myopathy mechanisms and suggested therapeutic interventions to alleviate the symptoms. Multiple therapeutic attempts are being made to supplement sialic acid depleted in GNE myopathy muscle cells. Translational research field provided valuable knowledge through natural history studies, patient registries and clinical trial, which significantly contributed to

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23

Wu, Lipeng, Long Lin, Meng Yu та ін. "Antitumor Activity of USP7 Inhibitor GNE-6776 in Non-Small Cell Lung Cancer Involves Regulation of Epithelial-Mesenchymal Transition, Cell Cycle, Wnt/β-Catenin, and PI3K/AKT/mTOR Pathways". Pharmaceuticals 18, № 2 (2025): 245. https://doi.org/10.3390/ph18020245.

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Objective: Non-small cell lung cancer (NSCLC) is a major cause of cancer-related deaths worldwide. This study investigated the effects and mechanisms of the USP7 inhibitor GNE-6776 on human NSCLC A549 and H1299 cells, providing insights for anti-NSCLC drug development. Methods: USP7 expression was analyzed in lung cancer tissue using data from public databases. RNA sequencing and functional enrichment analyses were conducted to explore differentially expressed genes (DEGs) and potentially related pathways. A549 and H1299 cells were treated with GNE-6776 at different concentrations, and its eff

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Ishtiaq, Hina, Sonia Siddiqui, Rukhsana Nawaz, Khawar Saeed Jamali, and Abdul Ghani Khan. "Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene." CNS & Neurological Disorders - Drug Targets 19, no. 2 (2020): 127–41. http://dx.doi.org/10.2174/1871527319666200213115747.

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Background: Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid due to the mutation in the binding site of the cytidine monophosphate-sialic acid of UDPGlcNAc 2-Epimerase/ManNAc Kinase (GNE/MNK). Objective: This is the first study investigating the molecular basis of neuronal disorders exhibiting sialuria in Pakistani children/adolescents. Methods: The current study genotyped GNE SNPs rs121908621, rs121908622 and rs121908623 by using PCR, RFLP, and DNA sequencing methods. Socioeconomic and clinical histories were also recorded. Results: Our data suggest t

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Nalini, Atchayaram, Ischizo Nishino, Narayanappa Gayathri, and YukikoK Hayashi. "GNE myopathy in India." Neurology India 61, no. 4 (2013): 371. http://dx.doi.org/10.4103/0028-3886.117609.

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26

Lochmüller, Hanns, Anthony Behin, Ivailo Tournev, et al. "Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy." Journal of Neuromuscular Diseases 8, no. 2 (2021): 225–34. http://dx.doi.org/10.3233/jnd-200565.

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BACKGROUND: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness. OBJECTIVE: Investigate the clinical presentation and progression of GNE myopathy. METHODS: The GNE Myopathy Disease Monitoring Program was an international, prospective, observational study in subjects with GNE myopathy. Muscle strength was assessed with hand-held dynamometry (HHD), with upper extremity (UE) and lower extremity (LE) composite scores reflecting upper and lower extremity mus

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Tereshchenko, Alexander, Ellen van der Plas, Katherine D. Mathews, et al. "Developmental Trajectory of Height, Weight, and BMI in Children and Adolescents at Risk for Huntington’s Disease: Effect of mHTT on Growth." Journal of Huntington's Disease 9, no. 3 (2020): 245–51. http://dx.doi.org/10.3233/jhd-200407.

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Background: The gene (Huntingtin or HTT) causing Huntington’s disease (HD) is vital for development and is expressed throughout the brain and body lifelong. The mutant form (mHTT) may influence growth and development. Objective: To determine the impact of mHTT on human measures of growth, including height, weight, and body mass index (BMI), between child and adolescent carriers of mHTT and control peers. Methods: Children ages 6–18 years of age (n = 186) at risk for HD were enrolled in the KidsHD study. For research purposes only, genetic testing was performed to classify participants as Gene-

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28

Manis, Cristina, Mattia Casula, Andreas Roos, et al. "Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy." Molecules 29, no. 21 (2024): 5211. http://dx.doi.org/10.3390/molecules29215211.

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GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase)/N-acetylmannosamine kinase (ManNAc kinase) gene (GNE), clinically resulting in the loss of ambulation within 10–20 years from the onset of the initial symptoms. The disease’s mechanism is poorly understood and non-invasive biomarkers are lacking, hindering effective therapy development. Based on the available e

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Wang, Xiangyu, Song Cen, and Chenfeng Li. "Generalized Neumann Expansion and Its Application in Stochastic Finite Element Methods." Mathematical Problems in Engineering 2013 (2013): 1–13. http://dx.doi.org/10.1155/2013/325025.

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An acceleration technique, termed generalized Neumann expansion (GNE), is presented for evaluating the responses of uncertain systems. The GNE method, which solves stochastic linear algebraic equations arising in stochastic finite element analysis, is easy to implement and is of high efficiency. The convergence condition of the new method is studied, and a rigorous error estimator is proposed to evaluate the upper bound of the relative error of a given GNE solution. It is found that the third-order GNE solution is sufficient to achieve a good accuracy even when the variation of the source stoc

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Fedorina, A. I., S. M. Antonov, and D. A. Sibarov. "The Role of Calcium-Dependent Desensitization in the Potentiation by GNE-9278 of NMDA Receptor Currents in Rat Cortal Neurons <i>in vitro</i>." Žurnal èvolûcionnoj biohimii i fiziologii 60, no. 5 (2024): 553–61. https://doi.org/10.31857/s0044452924050091.

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To compensate for the lack of functions of NMDA receptors in the central nervous system against the background of dementia, positive allosteric modulators (PAMs) are of great interest. Known PAMs increase the amplitude of integral ion currents carried by NMDA receptors, but do not affect the calcium-calmodulin dependent desensitization of the latter. We studied the possibility of modulating NMDA receptor desensitization by the newly synthesized PAM GNE-9278, which has a unique binding site on the transmembrane domain. Experiments were performed on native NMDA receptors expressed in rat neocort

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31

Wade, James Lloyd, Corey J. Langer, Mary Redman, et al. "A phase II study of GDC-0032 (taselisib) for previously treated PI3K positive patients with stage IV squamous cell lung cancer (SqNSCLC): LUNG-MAP sub-study SWOG S1400B." Journal of Clinical Oncology 35, no. 15_suppl (2017): 9054. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.9054.

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9054 Background: Lung-MAP (S1400) is a National Clinical Trials Network “umbrella” trial for previously-treated SqNSCLC. Sub-study S1400B included patients (pts) with tumors harboring PI3K mutations.Taselisib (GDC-0032), a potent, small molecule inhibitor of Class 1 PI3K with beta isoform sparing selectivity, has been shown to be a potent inhibitor in preclinical models of PIK3CA-mutant tumors. Methods: Eligibility stipulated progressive SqNSCLC after primary platinum-based therapy and presence of a PIK3CA mutation as determined by Foundation Medicine (FMI+) NGS. . The primary analysis populat

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Hassan, Muhammad Aamir, Sadaf Noor, Jungmi Park, et al. "Gelatin Nanoemulsion-Based Co-Delivery of Terbinafine and Essential Oils for Treatment of Candida albicans Biofilms." Microorganisms 13, no. 1 (2025): 127. https://doi.org/10.3390/microorganisms13010127.

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Fungal infections represent a significant global health challenge. Candida albicans is a particularly widespread pathogen, with both molecular and biofilm-based mechanisms making it resistant to or tolerant of available antifungal drugs. This study reports a combination therapy, active against C. albicans, utilizing terbinafine and essential oils incorporated into a gelatin-based nanoemulsion system (T-GNE). Eugenol and methyl eugenol/terbinafine T-GNEs had an additive efficacy, while carvacrol (CT-GNE) worked synergistically with terbinafine, providing effective antifungal treatment with mini

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Hagenhaus, Vanessa, Jacob L. Gorenflos López, Rebecca Rosenstengel, et al. "Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE)." Biomolecules 13, no. 3 (2023): 422. http://dx.doi.org/10.3390/biom13030422.

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Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM). GNEM is an adult-onset disease with a yet unknown exact pathophysiology. Since the protein appears to work adequately for a certain period of time even though the mutation is already present, other effects appear to influence the onset and progression of the disease. In this study, we want to investigate whether the late onset of GNEM is based on an age-related effect

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34

Valiente, Esmeralda, Natalia Jiménez, Susana Merino, Juan M. Tomás, and Carmen Amaro. "Vibrio vulnificus Biotype 2 Serovar E gne but Not galE Is Essential for Lipopolysaccharide Biosynthesis and Virulence." Infection and Immunity 76, no. 4 (2008): 1628–38. http://dx.doi.org/10.1128/iai.01393-07.

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ABSTRACT This work aimed to establish the role of gne (encoding UDP-GalNAc 4-epimerase activity) and galE (encoding UDP-Gal-4-epimerase activity) in the biosynthesis of surface polysaccharides, as well as in the virulence for eels and humans of the zoonotic serovar of Vibrio vulnificus biotype 2, serovar E. DNA sequence data revealed that gne and galE are quite homologous within this species (≥90% homology). Mutation in gne of strain CECT4999 increased the surface hydrophobicity, produced deep alterations in the outer membrane architecture, and resulted in noticeable increases in the sensitivi

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Anandan, Somarajan, Divine S. Shajee, Jyothish P. Kumar, Sajeesh S. Rajendran, and Sourav Asha Somarajan. "Nonaka myopathy: First report of a rare mutation c.1702T>Cfrom India." IP Indian Journal of Neurosciences 10, no. 3 (2024): 174–77. http://dx.doi.org/10.18231/j.ijn.2024.038.

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Nonaka myopathy is an autosomal recessive muscle disease which is slowly progressive. It typically presents between age 20 and 40 years with bilateral foot drop caused by tibialis anterior muscle weakness. Subsequently involvement of the posterior compartment of the leg, followed by involvement of hamstrings, then hip girdle muscles occur, with relative sparing of the quadriceps. About ten to 20 years after the onset, patient may become wheel chair bound. It is caused by mutation in GNE gene on chromosome 9. Here we describe a case of Nonaka myopathy caused by homozygous missense mutation in G

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Tamanna, Nasrin, Byung Kwon Pi, Ah Jin Lee, Sumaira Kanwal, Byung-Ok Choi, and Ki Wha Chung. "Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy." Genes 15, no. 4 (2024): 485. http://dx.doi.org/10.3390/genes15040485.

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Autosomal recessive Nonaka distal myopathy is a rare autosomal recessive genetic disease characterized by progressive degeneration of the distal muscles, causing muscle weakness and decreased grip strength. It is primarily associated with mutations in the GNE gene, which encodes a key enzyme of sialic acid biosynthesis (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase). This study was performed to find GNE mutations in six independent distal myopathy patients with or without peripheral neuropathy using whole-exome sequencing (WES). In silico pathogenic prediction and simulation o

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Ardani, Cening, Animah Animah, and L. Takdir Jumaidi. "PENGARUH SISTEM INFORMASI AKUNTANSI TERHADAP EFEKTIVITAS PENGENDALIAN INTERNAL PERSEDIAAN PADA MAHADESA GNE, MATARAM." Jurnal Riset Akuntansi Aksioma 22, no. 2 (2023): 284–94. http://dx.doi.org/10.29303/aksioma.v22i2.250.

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Penelitian ini bertujuan untuk menguji apakah sistem informasi akuntansi berpengaruh secara signifikan terhadap efektivitas pengendalian internal persediaan pada Mahadesa GNE, Mataram. Berdasarkan teori yang ditemukan, penelitian ini mendukung Theory of Reasoned Action (TRA) yang menjelaskan bahwa orang akan mempertimbangkan norma terhadap sikap mereka dan menyadari bahwa sistem informasi akuntansi akan menghasilkan manfaat bagi para penggunanya. Penelitian ini dilakukan dengan data kuantitatif pada tahun 2023. Populasi pada penelitian ini adalah staff/petugas mitra bumdes yang bekerjasama den

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Wang, Lei, Sandy Huskic, Adam Cisterne, Deborah Rothemund, and Peter R. Reeves. "The O-Antigen Gene Cluster of Escherichia coli O55:H7 and Identification of a New UDP-GlcNAc C4 Epimerase Gene." Journal of Bacteriology 184, no. 10 (2002): 2620–25. http://dx.doi.org/10.1128/jb.184.10.2620-2625.2002.

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ABSTRACT Escherichia coli O55 is an important antigen which is often associated with enteropathogenic E. coli clones. We sequenced the genes responsible for its synthesis and identified genes for O-antigen polymerase, O-antigen flippase, four enzymes involved in GDP-colitose synthesis, and three glycosyltransferases, all by comparison with known genes. Upstream of the normal O-antigen region there is a gne gene, which encodes a UDP-GlcNAc epimerase for converting UDP-GlcNAc to UDP-GalNAc and is essential for O55 antigen synthesis. The O55 gne product has only 20 and 26% identity to the gne gen

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Guo, Xinying, Jie Gu, Anwei Xue, et al. "Loss of GNE Predicts Lymph Node Metastasis in Early Gastric Cancer." Cells 11, no. 22 (2022): 3624. http://dx.doi.org/10.3390/cells11223624.

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Endoscopic surgery is increasingly utilized for the treatment of early gastric cancer (EGC) worldwide, whereas lymph node metastasis (LNM) remains a critical risk factor for the relapse of EGC after endoscopic surgery. Therefore, identifying potential predictive factors and understanding the molecular mechanisms are urgently needed for improving the outcome of EGC patients with LNM. UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) is the key enzyme in the process of biosynthesis of CMP-Neu5Ac from UDP-N-acetylglucosamine (UDP-GlcNAc), which acts as a substrate for several r

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Crowe, Kelly E. "Lectin Staining Biomarkers for Gene Therapy in GNE Myopathy." FASEB Journal 34, S1 (2020): 1. http://dx.doi.org/10.1096/fasebj.2020.34.s1.07098.

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Maples, Phillip B., Daniel Darvish, Gregory Nemunaitis, Esther Chang, Julie Ogden, and John Nemunaitis. "560. GNE Gene Replacement in Hereditary Inclusion Body Myopathy." Molecular Therapy 13 (2006): S215—S216. http://dx.doi.org/10.1016/j.ymthe.2006.08.633.

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Huizing, Marjan. "Disease mechanisms associated with mutations of the GNE gene." Drug Discovery Today: Disease Mechanisms 2, no. 4 (2005): 519–27. http://dx.doi.org/10.1016/j.ddmec.2005.11.003.

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Christine, Klaus, N. Hansen Jan, Ginolhac Aurélien, et al. "Reduced sialylation triggers homeostatic synapse and neuronal loss in middle-aged mice." Neurobiology of Aging 88 (January 21, 2020): 91–107. https://doi.org/10.1016/j.neurobiolaging.2020.01.008.

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Sialic acid-binding Ig-like lectin (Siglec) receptors are linked to neurodegenerative processes, but the role of sialic acids in physiological aging is still not fully understood. We investigated the impact of reduced sialylation in the brain of mice heterozygous for the enzyme glucosamine-2-epimerase/N-acetylmannosamine kinase (GNEþ/_) that is essential for sialic acid biosynthesis. We demonstrate that GNEþ/_ mice have hyposialylation in different brain regions, less synapses in the hippocampus and reduced microglial arborization already at 6 months followed by increased loss of n

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Perez, Anselmo José, Otávio Tavares, Flor Bonadiman Fusi, Gabriela Linhares Daltio, and Paulo de Tarso Veras Farinatti. "Estudo comparativo da autonomia de ação de idosas praticantes e não praticantes de exercícios físicos regulares." Revista Brasileira de Medicina do Esporte 16, no. 4 (2010): 254–58. http://dx.doi.org/10.1590/s1517-86922010000400004.

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A prática regular de exercícios físicos pode afetar favoravelmente a autonomia. O estudo comparou a autonomia de ação de idosas praticantes (GE, n = 27) e não praticantes (GNE, n = 21) de exercícios, valendo-se do Sistema Sênior de Avaliação da Autonomia de Ação (SysSen). O SysSen é composto por questionário (QSAP), voltado para necessidades de potência aeróbia (PA) e força (FO) em atividades compatíveis com uma vida percebida como autônoma, e teste de campo (TSMP), no qual se caminha 800m transportando cargas predeterminadas. O QSAP fornece o índice de autonomia exprimida (IAE) e o TSMP o índ

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Jung, Britta. "Herstellung einer Hybrid-GNE-Apparatur." Informationen aus Orthodontie & Kieferorthopädie 54, no. 03 (2022): 146. http://dx.doi.org/10.1055/a-1904-3805.

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Die chirurgisch unterstützte Gaumennahterweiterung (SARME) ist eine Kombinationstherapie aus einer forcierten Gaumennahterweiterung mittels Hyrax-Apparatur und einer operativen Schwächung des zygomaticomaxillären Bereichs. Häufig wird das Verfahren im Rahmen der Erwachsenenbehandlung auch mit sogenannten Hybrid-Apparaturen zur transversalen Nachentwicklung kombiniert.

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Ferro-Luzzi, M. "Recent GnE results from amsterdam." Nuclear Physics A 666-667 (March 2000): 94–99. http://dx.doi.org/10.1016/s0375-9474(00)00014-2.

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Al Talai, N., P. Sarathchandran, and A. B. Al Madani. "Phenotypic variability of GNE myopathy." Journal of the Neurological Sciences 405 (October 2019): 280. http://dx.doi.org/10.1016/j.jns.2019.10.1345.

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Canals, Rocío, Natalia Jiménez, Silvia Vilches, Miguel Regué, Susana Merino, and Juan M. Tomás. "Role of Gne and GalE in the Virulence of Aeromonas hydrophila Serotype O34." Journal of Bacteriology 189, no. 2 (2006): 540–50. http://dx.doi.org/10.1128/jb.01260-06.

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ABSTRACT The mesophilic Aeromonas hydrophila AH-3 (serotype O34) strain shows two different UDP-hexose epimerases in its genome: GalE (EC 3.1.5.2) and Gne (EC 3.1.5.7). Similar homologues were detected in the different mesophilic Aeromonas strains tested. GalE shows only UDP-galactose 4-epimerase activity, while Gne is able to perform a dual activity (mainly UDP-N-acetyl galactosamine 4-epimerase and also UDP-galactose 4-epimerase). We studied the activities in vitro of both epimerases and also in vivo through the lipopolysaccharide (LPS) structure of A. hydrophila gne mutants, A. hydrophila g

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Gherban, Cosmin, and Florin Sala. "MODELS FOR DESCRIBING THE VARIATION IN GRAIN WEIGHT IN WHEAT EARS – ANALYSIS OF THE VENEZIO VARIETY." LIFE SCIENCE AND SUSTAINABLE DEVELOPMENT 5, no. 2 (2024): 137–44. https://doi.org/10.58509/lssd.v5i2.320.

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The study analyzed the productivity elements of the wheat ear, the Venezio variety, and used regression analysis to model the variation of grain weight in the ear in relation to the morphological productivity elements of the ear. The experiment was carried out within the ULS “King Mihai I” from Timisoara, during 2021 - 2022. The ear productivity elements determined were: ear length (EL), spikelet number per ear (SpkN), grain number per ear (GNE), and grain weight per ear (GWE). The experimental data showed statistical reliability (F>Fcrit, Alpha = 0.001). A strong, positive correlation was

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GHERBAN, Cosmin, and Florin. "MODELS FOR DESCRIBING THE VARIATION IN GRAIN WEIGHT IN WHEAT EARS – ANALYSIS OF THE VENEZIO VARIETY." LIFE SCIENCE AND SUSTAINABLE DEVELOPMENT 5, no. 2 (2024): 137–44. https://doi.org/10.58509/aw1vxx29.

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The study analyzed the productivity elements of the wheat ear, the Venezio variety, and used regression analysis to model the variation of grain weight in the ear in relation to the morphological productivity elements of the ear. The experiment was carried out within the ULS “King Mihai I” from Timisoara, during 2021 - 2022. The ear productivity elements determined were: ear length (EL), spikelet number per ear (SpkN), grain number per ear (GNE), and grain weight per ear (GWE). The experimental data showed statistical reliability (F>Fcrit, Alpha = 0.001). A strong, positive correlation was

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