-
1
-
-
0021320516
-
Rimmed vacuole myopathy sparing the quadriceps. A unique disorder in Iranian Jews
-
Argov Z, Yarom R. "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 1984;64:33-43.
-
(1984)
J Neurol Sci
, vol.64
, pp. 33-43
-
-
Argov, Z.1
Yarom, R.2
-
2
-
-
17944366749
-
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
-
Eisenberg I, Avidan N, Potikha T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001;29:83-87.
-
(2001)
Nat Genet
, vol.29
, pp. 83-87
-
-
Eisenberg, I.1
Avidan, N.2
Potikha, T.3
-
3
-
-
0030827128
-
A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
-
Hinderlich S, Stasche R, Zeitler R, Reutter W. A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. J Biol Chem 1997;272:24313-24318.
-
(1997)
J Biol Chem
, vol.272
, pp. 24313-24318
-
-
Hinderlich, S.1
Stasche, R.2
Zeitler, R.3
Reutter, W.4
-
4
-
-
14644446021
-
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, et al. Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Exp Cell Res 2005;304:365-379.
-
(2005)
Exp Cell Res
, vol.304
, pp. 365-379
-
-
Krause, S.1
Hinderlich, S.2
Amsili, S.3
-
5
-
-
0346219378
-
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation
-
Krause S, Schlotter-Weigel B, Walter MC, et al. A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Neuromuscul Disord 2003;13:830-834.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 830-834
-
-
Krause, S.1
Schlotter-Weigel, B.2
Walter, M.C.3
-
6
-
-
4544304099
-
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy
-
Broccolini A, Ricci E, Cassandrini D, et al. Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. Hum Mutat 2004;23:632.
-
(2004)
Hum Mutat
, vol.23
, pp. 632
-
-
Broccolini, A.1
Ricci, E.2
Cassandrini, D.3
-
7
-
-
33644689755
-
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy
-
Penner J, Mantey LR, Elgavish S, et al. Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. Biochemistry 2006;45:2968-2977.
-
(2006)
Biochemistry
, vol.45
, pp. 2968-2977
-
-
Penner, J.1
Mantey, L.R.2
Elgavish, S.3
-
8
-
-
18744392293
-
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps
-
Eisenberg I, Grabov-Nardini G, Hochner H, et al. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat 2003;21:99.
-
(2003)
Hum Mutat
, vol.21
, pp. 99
-
-
Eisenberg, I.1
Grabov-Nardini, G.2
Hochner, H.3
-
9
-
-
27944459314
-
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy
-
Nov 15
-
Sparks SE, Ciccone C, Lalor M, et al. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. Glycobiology 2005;Nov 15:1102-1110.
-
(2005)
Glycobiology
, pp. 1102-1110
-
-
Sparks, S.E.1
Ciccone, C.2
Lalor, M.3
-
10
-
-
33748755610
-
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. 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. J Biol Chem 2006;281:27016-27028.
-
(2006)
J Biol Chem
, vol.281
, pp. 27016-27028
-
-
Wang, Z.1
Sun, Z.2
Li, A.V.3
Yarema, K.J.4
|