382 related articles for article (PubMed ID: 17549255)
1. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
Galeano B; Klootwijk R; Manoli I; Sun M; Ciccone C; Darvish D; Starost MF; Zerfas PM; Hoffmann VJ; Hoogstraten-Miller S; Krasnewich DM; Gahl WA; Huizing M
J Clin Invest; 2007 Jun; 117(6):1585-94. PubMed ID: 17549255
[TBL] [Abstract][Full Text] [Related]
2. The Gne M712T mouse as a model for human glomerulopathy.
Kakani S; Yardeni T; Poling J; Ciccone C; Niethamer T; Klootwijk ED; Manoli I; Darvish D; Hoogstraten-Miller S; Zerfas P; Tian E; Ten Hagen KG; Kopp JB; Gahl WA; Huizing M
Am J Pathol; 2012 Apr; 180(4):1431-40. PubMed ID: 22322304
[TBL] [Abstract][Full Text] [Related]
3. Sizing up sialic acid in glomerular disease.
Quaggin SE
J Clin Invest; 2007 Jun; 117(6):1480-3. PubMed ID: 17549251
[TBL] [Abstract][Full Text] [Related]
4. Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
Niethamer TK; Yardeni T; Leoyklang P; Ciccone C; Astiz-Martinez A; Jacobs K; Dorward HM; Zerfas PM; Gahl WA; Huizing M
Mol Genet Metab; 2012 Dec; 107(4):748-55. PubMed ID: 23122659
[TBL] [Abstract][Full Text] [Related]
5. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
Salama I; Hinderlich S; Shlomai Z; Eisenberg I; Krause S; Yarema K; Argov Z; Lochmuller H; Reutter W; Dabby R; Sadeh M; Ben-Bassat H; Mitrani-Rosenbaum S
Biochem Biophys Res Commun; 2005 Mar; 328(1):221-6. PubMed ID: 15670773
[TBL] [Abstract][Full Text] [Related]
6. Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.
Paccalet T; Coulombe Z; Tremblay JP
PLoS One; 2010 Apr; 5(4):e10055. PubMed ID: 20383336
[TBL] [Abstract][Full Text] [Related]
7. Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.
Yardeni T; Jacobs K; Niethamer TK; Ciccone C; Anikster Y; Kurochkina N; Gahl WA; Huizing M
Glycoconj J; 2013 Aug; 30(6):609-18. PubMed ID: 23266873
[TBL] [Abstract][Full Text] [Related]
8. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Sparks SE; Ciccone C; Lalor M; Orvisky E; Klootwijk R; Savelkoul PJ; Dalakas MC; Krasnewich DM; Gahl WA; Huizing M
Glycobiology; 2005 Nov; 15(11):1102-10. PubMed ID: 15987957
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Non-specific accumulation of glycosphingolipids in GNE myopathy.
Patzel KA; Yardeni T; Le Poëc-Celic E; Leoyklang P; Dorward H; Alonzi DS; Kukushkin NV; Xu B; Zhang Y; Sollogoub M; Blériot Y; Gahl WA; Huizing M; Butters TD
J Inherit Metab Dis; 2014 Mar; 37(2):297-308. PubMed ID: 24136589
[TBL] [Abstract][Full Text] [Related]
11. Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
Khademian H; Mehravar E; Urtizberea J; Sagoo S; Sandoval L; Carbajo R; Darvish B; Valles-Ayoub Y; Darvish D
Clin Genet; 2013 Dec; 84(6):589-92. PubMed ID: 23278550
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy.
Weidemann W; Reinhardt A; Thate A; Horstkorte R
Neuromuscul Disord; 2011 Dec; 21(12):824-31. PubMed ID: 21873062
[TBL] [Abstract][Full Text] [Related]
16. Variable phenotypes of knockin mice carrying the M712T Gne mutation.
Sela I; Yakovlev L; Becker Cohen M; Elbaz M; Yanay N; Ben Shlomo U; Yotvat H; Fellig Y; Argov Z; Mitrani-Rosenbaum S
Neuromolecular Med; 2013 Mar; 15(1):180-91. PubMed ID: 23238814
[TBL] [Abstract][Full Text] [Related]
17. [Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds].
Noguchi S; Malicdan MC; Nishino I
Brain Nerve; 2010 Jun; 62(6):601-7. PubMed ID: 20548120
[TBL] [Abstract][Full Text] [Related]
18. Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells.
Krause S; Hinderlich S; Amsili S; Horstkorte R; Wiendl H; Argov Z; Mitrani-Rosenbaum S; Lochmüller H
Exp Cell Res; 2005 Apr; 304(2):365-79. PubMed ID: 15748884
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis.
Reinke SO; Lehmer G; Hinderlich S; Reutter W
Biol Chem; 2009 Jul; 390(7):591-9. PubMed ID: 19426133
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]