-
1
-
-
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
-
S. Hinderlich et. al. 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. 272 1997 24313-24318
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 24313-24318
-
-
Hinderlich, S.1
-
2
-
-
0025867020
-
Sialic acid metabolism in sialuria fibroblasts
-
R. Seppala et. al. Sialic acid metabolism in sialuria fibroblasts J. Biol. Chem. 266 1991 7456-7461
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 7456-7461
-
-
Seppala, R.1
-
3
-
-
17944366749
-
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
-
I. Eisenberg et. al. The UDP-N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy Nat. Genet. 29 2001 83-89
-
(2001)
Nat. Genet.
, vol.29
, pp. 83-89
-
-
Eisenberg, I.1
-
4
-
-
0030993576
-
Sialic acids as ligands in recognition phenomena
-
A. Varki Sialic acids as ligands in recognition phenomena FASEB J. 11 1997 248-255
-
(1997)
FASEB J.
, vol.11
, pp. 248-255
-
-
Varki, A.1
-
5
-
-
0037117532
-
Sialylation is essential for early development in mice
-
M. Schwarzkopf et. al. Sialylation is essential for early development in mice Proc. Natl. Acad. Sci. U S A 99 2002 5267-5270
-
(2002)
Proc. Natl. Acad. Sci. U S A
, vol.99
, pp. 5267-5270
-
-
Schwarzkopf, M.1
-
6
-
-
0039546871
-
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme
-
R. Seppala et. al. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme Am. J. Hum. Genet. 64 1999 1563-1669
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1563-1669
-
-
Seppala, R.1
-
7
-
-
0034981941
-
Dominant inheritance of sialuria, an inborn error of feedback inhibition
-
J.G. Leroy et. al. Dominant inheritance of sialuria, an inborn error of feedback inhibition Am. J. Hum. Genet. 68 2001 1419-1427
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1419-1427
-
-
Leroy, J.G.1
-
8
-
-
18744392293
-
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps
-
I. Eisenberg et. al. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps Hum. Mutat. 21 2003 99
-
(2003)
Hum. Mutat.
, vol.21
, pp. 99
-
-
Eisenberg, I.1
-
9
-
-
0033215205
-
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
-
K. Effertz et. al. 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 J. Biol. Chem. 274 1999 28771-28778
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 28771-28778
-
-
Effertz, K.1
-
10
-
-
12144287262
-
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
-
S. Noguchi et. al. Reduction of UDP-N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles J. Biol. Chem. 279 2004 11402-11407
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 11402-11407
-
-
Noguchi, S.1
-
11
-
-
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
-
S.E. Sparks 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 15 2005 1102-1110
-
(2005)
Glycobiology
, vol.15
, pp. 1102-1110
-
-
Sparks, S.E.1
-
12
-
-
1242292943
-
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations
-
M. Huizing et. al. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations Mol. Genet. Metab. 81 2004 196-202
-
(2004)
Mol. Genet. Metab.
, vol.81
, pp. 196-202
-
-
Huizing, M.1
-
13
-
-
20244374708
-
Distal myopathy with rimmed vacuoles: Impaired O-glycan formation in muscular glycoproteins
-
Y. Tajima et. al. Distal myopathy with rimmed vacuoles: Impaired O-glycan formation in muscular glycoproteins Am. J. Pathol. 166 2005 1121-1130
-
(2005)
Am. J. Pathol.
, vol.166
, pp. 1121-1130
-
-
Tajima, Y.1
-
14
-
-
10044287090
-
Epigenetic reprogramming of UDP-N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase (GNE) in HIV-1-infected CEM T cells
-
V. Giordanengo et. al. Epigenetic reprogramming of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) in HIV-1-infected CEM T cells FASEB J. 18 2004 1961-1963
-
(2004)
FASEB J.
, vol.18
, pp. 1961-1963
-
-
Giordanengo, V.1
-
15
-
-
14644446021
-
Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells
-
S. Krause et. al. Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells Exp. Cell Res. 304 2005 365-379
-
(2005)
Exp. Cell Res.
, vol.304
, pp. 365-379
-
-
Krause, S.1
-
16
-
-
0342748521
-
Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase
-
R. Horstkorte et. al. Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase FEBS Lett. 470 2000 315-318
-
(2000)
FEBS Lett.
, vol.470
, pp. 315-318
-
-
Horstkorte, R.1
-
17
-
-
0034625409
-
Cloning and expression of the human N-acetylneuraminic acid phosphate synthase gene with 2-keto-3-deoxy- d -glycero- d -galacto-nononic acid biosynthetic ability
-
S.M. Lawrence et. al. Cloning and expression of the human N-acetylneuraminic acid phosphate synthase gene with 2-keto-3-deoxy- d -glycero- d -galacto-nononic acid biosynthetic ability J. Biol. Chem. 275 2000 17869-17877
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 17869-17877
-
-
Lawrence, S.M.1
-
18
-
-
0032482961
-
Mammalian cytidine 5′-monophosphate N-acetylneuraminic acid synthetase: A nuclear protein with evolutionarily conserved structural motifs
-
A.K. Münster et. al. Mammalian cytidine 5′-monophosphate N-acetylneuraminic acid synthetase: A nuclear protein with evolutionarily conserved structural motifs Proc. Natl. Acad. Sci. U S A 95 1998 9140-9145
-
(1998)
Proc. Natl. Acad. Sci. U S A
, vol.95
, pp. 9140-9145
-
-
Münster, A.K.1
-
19
-
-
25144501600
-
The animal sialyltransferases and sialyltransferase-related genes: A phylogenetic approach
-
A. Harduin-Lepers et. al. The animal sialyltransferases and sialyltransferase-related genes: A phylogenetic approach Glycobiology 15 2005 805-817
-
(2005)
Glycobiology
, vol.15
, pp. 805-817
-
-
Harduin-Lepers, A.1
-
20
-
-
15944399952
-
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter
-
I. Martinez-Duncker et. al. Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter Blood 105 2005 2671-2676
-
(2005)
Blood
, vol.105
, pp. 2671-2676
-
-
Martinez-Duncker, I.1
-
21
-
-
0037424247
-
GlcNAc 2-epimerase can serve a catabolic role in sialic acid metabolism
-
S.J. Luchansky et. al. GlcNAc 2-epimerase can serve a catabolic role in sialic acid metabolism J. Biol. Chem. 278 2003 8035-8042
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 8035-8042
-
-
Luchansky, S.J.1
-
22
-
-
0032519629
-
Purification and characterization of N-acetylglucosamine kinase from rat liver - Comparison with UDP-N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase
-
S. Hinderlich et. al. Purification and characterization of N-acetylglucosamine kinase from rat liver - comparison with UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase Eur. J. Biochem. 252 1998 133-139
-
(1998)
Eur. J. Biochem.
, vol.252
, pp. 133-139
-
-
Hinderlich, S.1
-
23
-
-
0032706624
-
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
-
F.W. Verheijen et. al. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases Nat. Genet. 23 1999 462-465
-
(1999)
Nat. Genet.
, vol.23
, pp. 462-465
-
-
Verheijen, F.W.1
-
24
-
-
0032783547
-
Sialuria in a Portuguese girl: Clinical, biochemical, and molecular characteristics
-
H. Ferreira et. al. Sialuria in a Portuguese girl: Clinical, biochemical, and molecular characteristics Mol. Genet. Metab. 67 1999 131-137
-
(1999)
Mol. Genet. Metab.
, vol.67
, pp. 131-137
-
-
Ferreira, H.1
-
25
-
-
0034923851
-
Clinical course and biochemistry of sialuria
-
G.M. Enns et. al. Clinical course and biochemistry of sialuria J. Inherit. Metab. Dis. 24 2001 328-336
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 328-336
-
-
Enns, G.M.1
-
26
-
-
0032493123
-
Hyperinsulinism and hyperammonia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
C.A. Stanley et. al. Hyperinsulinism and hyperammonia in infants with regulatory mutations of the glutamate dehydrogenase gene N. Engl. J. Med. 338 1998 1352-1357
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
-
27
-
-
0036534464
-
Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations
-
J. Fang et. al. Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations Biochem. J. 363 Pt 1 2002 81-87
-
(2002)
Biochem. J.
, vol.363
, Issue.PART 1
, pp. 81-87
-
-
Fang, J.1
-
28
-
-
0038132996
-
Allele-specific silencing of dominant disease genes
-
V.M. Miller et. al. Allele-specific silencing of dominant disease genes Proc. Natl. Acad. Sci. U S A 100 2003 7195-7200
-
(2003)
Proc. Natl. Acad. Sci. U S A
, vol.100
, pp. 7195-7200
-
-
Miller, V.M.1
-
29
-
-
0028787389
-
Inclusion body myositis and myopathies
-
R.C. Griggs et. al. Inclusion body myositis and myopathies Ann. Neurol. 38 1995 705-715
-
(1995)
Ann. Neurol.
, vol.38
, pp. 705-715
-
-
Griggs, R.C.1
-
30
-
-
0029826654
-
The spectrum of familial inclusion body myopathies in 13 families and description of a quadriceps sparing phenotype in non-Iranian Jews
-
K. Sivakumar M.C. Dalakas The spectrum of familial inclusion body myopathies in 13 families and description of a quadriceps sparing phenotype in non-Iranian Jews Neurology 47 1996 977-984
-
(1996)
Neurology
, vol.47
, pp. 977-984
-
-
Sivakumar, K.1
Dalakas, M.C.2
-
31
-
-
0041624026
-
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation
-
I. Yabe et. al. GNE mutations causing distal myopathy with rimmed vacuoles with inflammation Neurology 61 2003 384-386
-
(2003)
Neurology
, vol.61
, pp. 384-386
-
-
Yabe, I.1
-
32
-
-
0038182574
-
Dystrophin-glycoprotein complex: Post-translational processing and dystroglycan function
-
D.E. Michele et. al. Dystrophin-glycoprotein complex: Post-translational processing and dystroglycan function J. Biol. Chem. 278 2003 15457-15460
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 15457-15460
-
-
Michele, D.E.1
-
33
-
-
0035252649
-
The complexities of dystroglycan
-
S.J. Winder The complexities of dystroglycan Trends Biochem. Sci. 26 2001 118-124
-
(2001)
Trends Biochem. Sci.
, vol.26
, pp. 118-124
-
-
Winder, S.J.1
-
34
-
-
19944433043
-
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation
-
I. Salama et. al. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation Biochem. Biophys. Res. Commun. 328 2005 221-226
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.328
, pp. 221-226
-
-
Salama, I.1
-
35
-
-
26244448544
-
Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy
-
E. Gottlieb et. al. Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy Mol. Genet. Metab. 86 2005 244-249
-
(2005)
Mol. Genet. Metab.
, vol.86
, pp. 244-249
-
-
Gottlieb, E.1
-
36
-
-
0037221855
-
Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review
-
D. Darvish Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review Med. Hypotheses 60 2003 94-101
-
(2003)
Med. Hypotheses
, vol.60
, pp. 94-101
-
-
Darvish, D.1
-
37
-
-
0034825538
-
Evidence for efficient uptake and incorporation of sialic acid by eukaryotic cells
-
C. Oetke et. al. Evidence for efficient uptake and incorporation of sialic acid by eukaryotic cells Eur. J. Biochem. 268 2001 4553-4561
-
(2001)
Eur. J. Biochem.
, vol.268
, pp. 4553-4561
-
-
Oetke, C.1
-
38
-
-
0032578387
-
A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence
-
H.H. Chou et. al. A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence Proc. Natl. Acad. Sci. U S A 95 1998 11751-11756
-
(1998)
Proc. Natl. Acad. Sci. U S A
, vol.95
, pp. 11751-11756
-
-
Chou, H.H.1
-
39
-
-
0033793732
-
Biosynthetic incorporation of unnatural sialic acids into polysialic acid on neural cells
-
N.W. Charter et. al. Biosynthetic incorporation of unnatural sialic acids into polysialic acid on neural cells Glycobiology 10 2000 1049-1056
-
(2000)
Glycobiology
, vol.10
, pp. 1049-1056
-
-
Charter, N.W.1
-
40
-
-
0037134622
-
2′,3′-Dialdehydo-UDP-N-acetylglucosamine inhibits UDP-N-acetylglucosamine 2-epimerase, the key enzyme of sialic acid biosynthesis
-
A. Blume et. al. 2′,3′-Dialdehydo-UDP-N-acetylglucosamine inhibits UDP-N-acetylglucosamine 2-epimerase, the key enzyme of sialic acid biosynthesis FEBS Lett. 521 2002 127-132
-
(2002)
FEBS Lett.
, vol.521
, pp. 127-132
-
-
Blume, A.1
-
41
-
-
0035839081
-
Efficient biochemical engineering of cellular sialic acids using an unphysiological sialic acid precursor in cells lacking UDP-N-acetylglucosamine 2-epimerase
-
L.R. Mantley et. al. Efficient biochemical engineering of cellular sialic acids using an unphysiological sialic acid precursor in cells lacking UDP-N-acetylglucosamine 2-epimerase FEBS Lett. 503 2001 80-84
-
(2001)
FEBS Lett.
, vol.503
, pp. 80-84
-
-
Mantley, L.R.1
-
43
-
-
33645937646
-
The mechanism of naked DNA uptake and expression
-
J.A. Wolff V. Budker The mechanism of naked DNA uptake and expression Adv. Genet. 54 2005 3-20
-
(2005)
Adv. Genet.
, vol.54
, pp. 3-20
-
-
Wolff, J.A.1
Budker, V.2
|