BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

383 related articles for article (PubMed ID: 19426133)

  • 21. A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
    Malicdan MC; Noguchi S; Nonaka I; Hayashi YK; Nishino I
    Hum Mol Genet; 2007 Jan; 16(2):115-28. PubMed ID: 17164266
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
    Mori-Yoshimura M; Monma K; Suzuki N; Aoki M; Kumamoto T; Tanaka K; Tomimitsu H; Nakano S; Sonoo M; Shimizu J; Sugie K; Nakamura H; Oya Y; Hayashi YK; Malicdan MC; Noguchi S; Murata M; Nishino I
    J Neurol Sci; 2012 Jul; 318(1-2):100-5. PubMed ID: 22507750
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
    Malicdan MC; Noguchi S; Nonaka I; Hayashi YK; Nishino I
    Hum Mol Genet; 2007 Nov; 16(22):2669-82. PubMed ID: 17704511
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene.
    Hong Y; Stanley P
    J Biol Chem; 2003 Dec; 278(52):53045-54. PubMed ID: 14561743
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Purification and characterization of GlcNAc-6-P 2-epimerase from Escherichia coli K92.
    Ferrero MA; Martínez-Blanco H; Lopez-Velasco FF; Ezquerro-Sáenz C; Navasa N; Lozano S; Rodríguez-Aparicio LB
    Acta Biochim Pol; 2007; 54(2):387-99. PubMed ID: 17565386
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
    Xu X; Wang AQ; Latham LL; Celeste F; Ciccone C; Malicdan MC; Goldspiel B; Terse P; Cradock J; Yang N; Yorke S; McKew JC; Gahl WA; Huizing M; Carrillo N
    Mol Genet Metab; 2017 Sep; 122(1-2):126-134. PubMed ID: 28641925
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis.
    Chen SC; Huang CH; Lai SJ; Yang CS; Hsiao TH; Lin CH; Fu PK; Ko TP; Chen Y
    Sci Rep; 2016 Mar; 6():23274. PubMed ID: 26980148
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Beyond glycosylation: sialic acid precursors act as signaling molecules and are involved in cellular control of differentiation of PC12 cells.
    Kontou M; Weidemann W; Bork K; Horstkorte R
    Biol Chem; 2009 Jul; 390(7):575-9. PubMed ID: 19361277
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The key enzyme of sialic acid biosynthesis (GNE) promotes neurite outgrowth of PC12 cells.
    Kontou M; Weidemann W; Bauer C; Reutter W; Horstkorte R
    Neuroreport; 2008 Aug; 19(12):1239-42. PubMed ID: 18628673
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.
    Blume A; Weidemann W; Stelzl U; Wanker EE; Lucka L; Donner P; Reutter W; Horstkorte R; Hinderlich S
    Biochem J; 2004 Dec; 384(Pt 3):599-607. PubMed ID: 15330759
    [TBL] [Abstract][Full Text] [Related]  

  • 31. GNE protein expression and subcellular distribution are unaltered in HIBM.
    Krause S; Aleo A; Hinderlich S; Merlini L; Tournev I; Walter MC; Argov Z; Mitrani-Rosenbaum S; Lochmüller H
    Neurology; 2007 Aug; 69(7):655-9. PubMed ID: 17698786
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The tetrameric structure of sialic acid-synthesizing UDP-GlcNAc 2-epimerase from
    Ko TP; Lai SJ; Hsieh TJ; Yang CS; Chen Y
    J Biol Chem; 2018 Jun; 293(26):10119-10127. PubMed ID: 29764940
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
    Kayashima T; Matsuo H; Satoh A; Ohta T; Yoshiura K; Matsumoto N; Nakane Y; Niikawa N; Kishino T
    J Hum Genet; 2002; 47(2):77-9. PubMed ID: 11916006
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation.
    Wang Z; Sun Z; Li AV; Yarema KJ
    J Biol Chem; 2006 Sep; 281(37):27016-28. PubMed ID: 16847058
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Expression and secretion of wild type and mutant GNE proteins in Dictyostelium discoideum.
    Grover S; Aslam S; Sharma V; Arya R
    CNS Neurol Disord Drug Targets; 2014; 13(7):1263-72. PubMed ID: 25230235
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
    Eisenberg I; Grabov-Nardini G; Hochner H; Korner M; Sadeh M; Bertorini T; Bushby K; Castellan C; Felice K; Mendell J; Merlini L; Shilling C; Wirguin I; Argov Z; Mitrani-Rosenbaum S
    Hum Mutat; 2003 Jan; 21(1):99. PubMed ID: 12497639
    [TBL] [Abstract][Full Text] [Related]  

  • 37. GlcNAc 2-epimerase can serve a catabolic role in sialic acid metabolism.
    Luchansky SJ; Yarema KJ; Takahashi S; Bertozzi CR
    J Biol Chem; 2003 Mar; 278(10):8035-42. PubMed ID: 12499362
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Sialic acid biosynthesis: stereochemistry and mechanism of the reaction catalyzed by the mammalian UDP-N-acetylglucosamine 2-epimerase.
    Chou WK; Hinderlich S; Reutter W; Tanner ME
    J Am Chem Soc; 2003 Mar; 125(9):2455-61. PubMed ID: 12603133
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase due to site-directed mutagenesis based on sequence alignments.
    Effertz K; Hinderlich S; Reutter W
    J Biol Chem; 1999 Oct; 274(40):28771-8. PubMed ID: 10497249
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
    Kurochkina N; Yardeni T; Huizing M
    Glycobiology; 2010 Mar; 20(3):322-37. PubMed ID: 19917666
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 20.