Literature DB >> 23842869

UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.

Stephan Hinderlich1, Wenke Weidemann, Tal Yardeni, Rüdiger Horstkorte, Marjan Huizing.   

Abstract

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is the key enzyme of sialic acid biosynthesis in vertebrates. It catalyzes the first two steps of the cytosolic formation of CMP-N-acetylneuraminic acid from UDP-N-acetylglucosamine. In this review we give an overview of structure, biochemistry, and genetics of the bifunctional enzyme and its complex regulation. Furthermore, we will focus on diseases related to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.

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Year:  2015        PMID： 23842869      PMCID： PMC4161665          DOI： 10.1007/128_2013_464

Source DB:  PubMed          Journal:  Top Curr Chem        ISSN： 0340-1022


  164 in total

1.  An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

Authors:  A Broccolini; M Pescatori; A D'Amico; A Sabino; G Silvestri; E Ricci; S Servidei; P A Tonali; M Mirabella
Journal:  Neurology       Date:  2002-12-10       Impact factor: 9.910

2.  A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.

Authors:  Sabine Krause; Beate Schlotter-Weigel; Maggie C Walter; Hossein Najmabadi; Heinz Wiendl; Josef Müller-Höcker; Wolfgang Müller-Felber; Dieter Pongratz; Hanns Lochmüller
Journal:  Neuromuscul Disord       Date:  2003-12       Impact factor: 4.296

3.  The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis.

Authors:  Wenke Weidemann; Ulrich Stelzl; Ulrike Lisewski; Kaya Bork; Erich E Wanker; Stephan Hinderlich; Rüdiger Horstkorte
Journal:  FEBS Lett       Date:  2006-11-14       Impact factor: 4.124

4.  Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Authors:  J G Leroy; R Seppala; M Huizing; G Dacremont; H De Simpel; R N Van Coster; E Orvisky; D M Krasnewich; W A Gahl
Journal:  Am J Hum Genet       Date:  2001-04-18       Impact factor: 11.025

Review 5.  Increasing the sialylation of therapeutic glycoproteins: the potential of the sialic acid biosynthetic pathway.

Authors:  Kaya Bork; Rüdiger Horstkorte; Wenke Weidemann
Journal:  J Pharm Sci       Date:  2009-10       Impact factor: 3.534

6.  Uridine diphosphate N-acetyl-D-glucosamine-2-epimerase from rat liver. I. Catalytic and regulatory properties.

Authors:  K M Sommar; D B Ellis
Journal:  Biochim Biophys Acta       Date:  1972-05-12

7.  Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Authors:  May Christine V Malicdan; Satoru Noguchi; Ichizo Nishino
Journal:  Autophagy       Date:  2007-07-12       Impact factor: 16.016

8.  Mitochondrial processes are impaired in hereditary inclusion body myopathy.

Authors:  Iris Eisenberg; Noa Novershtern; Zohar Itzhaki; Michal Becker-Cohen; Menachem Sadeh; Peter H G M Willems; Nir Friedman; Werner J H Koopman; Stella Mitrani-Rosenbaum
Journal:  Hum Mol Genet       Date:  2008-08-23       Impact factor: 6.150

9.  2',3'-Dialdehydo-UDP-N-acetylglucosamine inhibits UDP-N-acetylglucosamine 2-epimerase, the key enzyme of sialic acid biosynthesis.

Authors:  Astrid Blume; Hao Chen; Werner Reutter; Richard R Schmidt; Stephan Hinderlich
Journal:  FEBS Lett       Date:  2002-06-19       Impact factor: 4.124

10.  The stereochemical course of phosphoryl transfer catalysed by glucokinase.

Authors:  D Pollard-Knight; B V Potter; P M Cullis; G Lowe; A Cornish-Bowden
Journal:  Biochem J       Date:  1982-02-01       Impact factor: 3.857
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  29 in total

1.  GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.

Authors:  Reema Singh; Ranjana Arya
Journal:  Mol Neurobiol       Date:  2015-05-15       Impact factor: 5.590

2.  Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.

Authors:  Noelia Nunez Martinez; Michelle Lipke; Jacqueline Robinson; Bridget Wilcken
Journal:  JIMD Rep       Date:  2018-06-20

Review 3.  Mutation update for GNE gene variants associated with GNE myopathy.

Authors:  Frank V Celeste; Thierry Vilboux; Carla Ciccone; John Karl de Dios; May Christine V Malicdan; Petcharat Leoyklang; John C McKew; William A Gahl; Nuria Carrillo-Carrasco; Marjan Huizing
Journal:  Hum Mutat       Date:  2014-08       Impact factor: 4.878

4.  Genetics of GNE myopathy in the non-Jewish Persian population.

Authors:  Alireza Haghighi; Shahriar Nafissi; Abrar Qurashi; Zheng Tan; Hosein Shamshiri; Yalda Nilipour; Amirreza Haghighi; Robert J Desnick; Ruth Kornreich
Journal:  Eur J Hum Genet       Date:  2015-05-13       Impact factor: 4.246

5.  Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics.

Authors:  Shamulailatpam Shreedarshanee Devi; Rashmi Yadav; Fluencephila Mashangva; Priyanka Chaudhary; Shweta Sharma; Ranjana Arya
Journal:  Mol Neurobiol       Date:  2021-09-12       Impact factor: 5.590

Review 6.  Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Authors:  Monique Piraud; Magali Pettazzoni; Pamela Lavoie; Séverine Ruet; Cécile Pagan; David Cheillan; Philippe Latour; Christine Vianey-Saban; Christiane Auray-Blais; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2018-03-19       Impact factor: 4.982

7.  The tetrameric structure of sialic acid-synthesizing UDP-GlcNAc 2-epimerase from Acinetobacter baumannii: A comparative study with human GNE.

Authors:  Tzu-Ping Ko; Shu-Jung Lai; Tung-Ju Hsieh; Chia-Shin Yang; Yeh Chen
Journal:  J Biol Chem       Date:  2018-05-15       Impact factor: 5.157

8.  Mass Spectrometric Method for the Unambiguous Profiling of Cellular Dynamic Glycosylation.

Authors:  Asif Shajahan; Nitin T Supekar; Han Wu; Amberlyn M Wands; Ganapati Bhat; Aravind Kalimurthy; Masaaki Matsubara; Rene Ranzinger; Jennifer J Kohler; Parastoo Azadi
Journal:  ACS Chem Biol       Date:  2020-09-04       Impact factor: 5.100

Review 9.  GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.

Authors:  Nuria Carrillo; May C Malicdan; Marjan Huizing
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

Review 10.  Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration.

Authors:  Ronald L Schnaar; Rita Gerardy-Schahn; Herbert Hildebrandt
Journal:  Physiol Rev       Date:  2014-04       Impact factor: 37.312
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