187 related articles for article (PubMed ID: 27023225)
1. The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.
Harazi A; Becker-Cohen M; Zer H; Moshel O; Hinderlich S; Mitrani-Rosenbaum S
Mol Neurobiol; 2017 May; 54(4):2928-2938. PubMed ID: 27023225
[TBL] [Abstract][Full Text] [Related]
2. UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?
Amsili S; Zer H; Hinderlich S; Krause S; Becker-Cohen M; MacArthur DG; North KN; Mitrani-Rosenbaum S
PLoS One; 2008 Jun; 3(6):e2477. PubMed ID: 18560563
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.
Bennmann D; Weidemann W; Thate A; Kreuzmann D; Horstkorte R
FEBS J; 2016 Jun; 283(12):2285-94. PubMed ID: 27037841
[TBL] [Abstract][Full Text] [Related]
6. Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.
Chanana P; Padhy G; Bhargava K; Arya R
Neuromolecular Med; 2017 Dec; 19(4):525-540. PubMed ID: 28895049
[TBL] [Abstract][Full Text] [Related]
7. Novel GNE compound heterozygous mutations in a GNE myopathy patient.
Cai H; Yabe I; Shirai S; Nishimura H; Hirotani M; Kano T; Houzen H; Yoshida K; Sasaki H
Muscle Nerve; 2013 Oct; 48(4):594-8. PubMed ID: 23558691
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
Izumi R; Niihori T; Suzuki N; Sasahara Y; Rikiishi T; Nishiyama A; Nishiyama S; Endo K; Kato M; Warita H; Konno H; Takahashi T; Tateyama M; Nagashima T; Funayama R; Nakayama K; Kure S; Matsubara Y; Aoki Y; Aoki M
Neuromuscul Disord; 2014 Dec; 24(12):1068-72. PubMed ID: 25257349
[TBL] [Abstract][Full Text] [Related]
10. Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
Penner J; Mantey LR; Elgavish S; Ghaderi D; Cirak S; Berger M; Krause S; Lucka L; Voit T; Mitrani-Rosenbaum S; Hinderlich S
Biochemistry; 2006 Mar; 45(9):2968-77. PubMed ID: 16503651
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. 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]
14. 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]
15. Cell stress molecules in the skeletal muscle of GNE myopathy.
Fischer C; Kleinschnitz K; Wrede A; Muth I; Kruse N; Nishino I; Schmidt J
BMC Neurol; 2013 Mar; 13():24. PubMed ID: 23496965
[TBL] [Abstract][Full Text] [Related]
16. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
Huizing M; Rakocevic G; Sparks SE; Mamali I; Shatunov A; Goldfarb L; Krasnewich D; Gahl WA; Dalakas MC
Mol Genet Metab; 2004 Mar; 81(3):196-202. PubMed ID: 14972325
[TBL] [Abstract][Full Text] [Related]
17. GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.
Singh R; Arya R
Mol Neurobiol; 2016 Jul; 53(5):3088-3101. PubMed ID: 25976366
[TBL] [Abstract][Full Text] [Related]
18. A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy.
Miao J; Wei XJ; Wang X; Yin X; Yu XF
Medicine (Baltimore); 2020 Oct; 99(41):e22663. PubMed ID: 33031330
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Muscle imaging findings in GNE myopathy.
Tasca G; Ricci E; Monforte M; Laschena F; Ottaviani P; Rodolico C; Barca E; Silvestri G; Iannaccone E; Mirabella M; Broccolini A
J Neurol; 2012 Jul; 259(7):1358-65. PubMed ID: 22231866
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
