-
2
-
-
0037424247
-
GlcNAc 2-epimerase can serve a catabolic role in sialic acid metabolism
-
Luchansky SJ, Yarema KJ, Takahashi S, Bertozzi CR (2003) GlcNAc 2-epimerase can serve a catabolic role in sialic acid metabolism. J Biol Chem 278:8035-8042
-
(2003)
J Biol Chem
, vol.278
, pp. 8035-8042
-
-
Luchansky, S.J.1
Yarema, K.J.2
Takahashi, S.3
Bertozzi, C.R.4
-
3
-
-
0035077631
-
Biosynthesis of N-acetylneuraminic acid in cells lacking UDP-N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase
-
Hinderlich S, Berger M, Keppler OT, Pawlita M, Reutter W (2001) Biosynthesis of N-acetylneuraminic acid in cells lacking UDP-N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase. Biol Chem 382:291-297
-
(2001)
Biol Chem
, vol.382
, pp. 291-297
-
-
Hinderlich, S.1
Berger, M.2
Keppler, O.T.3
Pawlita, M.4
Reutter, W.5
-
4
-
-
0030037357
-
Isolation and characterization of sialate lyase from pig kidney
-
Schauer R, Wember M (1996) Isolation and characterization of sialate lyase from pig kidney. Biol Chem Hoppe Seyler 377:293-299
-
(1996)
Biol Chem Hoppe Seyler
, vol.377
, pp. 293-299
-
-
Schauer, R.1
Wember, M.2
-
6
-
-
31144464808
-
Identification of the sequence encoding N-acetylneuraminate-9-phosphate phosphatase
-
Maliekal P, Vertommen D, Delpierre G, Van Schaftingen E (2006) Identification of the sequence encoding N-acetylneuraminate-9-phosphate phosphatase. Glycobiology 16:165-172
-
(2006)
Glycobiology
, vol.16
, pp. 165-172
-
-
Maliekal, P.1
Vertommen, D.2
Delpierre, G.3
Van Schaftingen, E.4
-
7
-
-
4644278088
-
Structure and function of vertebrate CMP-sialic acid synthetases
-
Münster-Kühnel AK, Tiralongo J, Krapp S, Weinhold B, Ritz-Sedlacek V, Jacob U, Gerardy- Schahn R (2004) Structure and function of vertebrate CMP-sialic acid synthetases. Glycobiology 14:43R-51R
-
(2004)
Glycobiology
, vol.14
, pp. 43R-51R
-
-
Münster-Kühnel, A.K.1
Tiralongo, J.2
Krapp, S.3
Weinhold, B.4
Ritz-Sedlacek, V.5
Jacob, U.6
Gerardy-Schahn, R.7
-
8
-
-
0034851008
-
Nucleotide sugar transporters: Biological and functional aspects
-
Gerardy-Schahn R, Oelmann S, Bakker H (2001) Nucleotide sugar transporters: biological and functional aspects. Biochimie 83:775-782
-
(2001)
Biochimie
, vol.83
, pp. 775-782
-
-
Gerardy-Schahn, R.1
Oelmann, S.2
Bakker, H.3
-
9
-
-
84882643118
-
Molecular physiology and pathophysiology of lysosomal membrane transporters
-
Sagne C, Gasnier B (2008) Molecular physiology and pathophysiology of lysosomal membrane transporters. J Inherit Metab Dis 15:15
-
(2008)
J Inherit Metab Dis
, vol.15
, pp. 15
-
-
Sagne, C.1
Gasnier, B.2
-
10
-
-
0026051367
-
Sialic acid activation
-
Kean EL (1991) Sialic acid activation. Glycobiology 1:441-447
-
(1991)
Glycobiology
, vol.1
, pp. 441-447
-
-
Kean, E.L.1
-
11
-
-
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, Stäsche R, Zeitler R, Reutter W (1997) 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 272:24313-24318
-
(1997)
J Biol Chem
, vol.272
, pp. 24313-24318
-
-
Hinderlich, S.1
Stäsche, R.2
Zeitler, R.3
Reutter, W.4
-
12
-
-
0030827890
-
A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase
-
Stäsche R, Hinderlich S, Weise C, Effertz K, Lucka L, Moormann P, Reutter W (1997) A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase. J Biol Chem 272:24319-24324
-
(1997)
J Biol Chem
, vol.272
, pp. 24319-24324
-
-
Stäsche, R.1
Hinderlich, S.2
Weise, C.3
Effertz, K.4
Lucka, L.5
Moormann, P.6
Reutter, W.7
-
13
-
-
0343690801
-
Enzymatic formation of acetylgalactosamine
-
Cardini CE, Leloir LF (1957) Enzymatic formation of acetylgalactosamine. J Biol Chem 225:317-324
-
(1957)
J Biol Chem
, vol.225
, pp. 317-324
-
-
Cardini, C.E.1
Leloir, L.F.2
-
14
-
-
0013214051
-
Enzymatic synthesis of N-acetyl-D-mannosamine
-
Comb DG, Roseman S (1958) Enzymatic synthesis of N-acetyl-D-mannosamine. Biochim Biophys Acta 29:653-654
-
(1958)
Biochim Biophys Acta
, vol.29
, pp. 653-654
-
-
Comb, D.G.1
Roseman, S.2
-
15
-
-
0038235544
-
Enzymatic phosphorylation of N-acetyl-D-mannosamine
-
Gosh S, Roseman S (1961) Enzymatic phosphorylation of N-acetyl-D-mannosamine. Proc Natl Acad Sci U S A 47:955-958
-
(1961)
Proc Natl Acad Sci U S A
, vol.47
, pp. 955-958
-
-
Gosh, S.1
Roseman, S.2
-
16
-
-
0008876470
-
N-Acetylmannosamine-6-phosphate and N-acetylneuraminic acid-9-phosphate as intermediates in sialic acid biosynthesis
-
Warren L, Felsenfeld H (1961) N-Acetylmannosamine-6-phosphate and N-acetylneuraminic acid-9-phosphate as intermediates in sialic acid biosynthesis. Biochem Biophys Res Commun 5:185-190
-
(1961)
Biochem Biophys Res Commun
, vol.5
, pp. 185-190
-
-
Warren, L.1
Felsenfeld, H.2
-
17
-
-
0342385625
-
UDP-N-acetyl-D-glucosamine 20-epimerase
-
Spivak CT, Roseman S (1966) UDP-N-acetyl-D-glucosamine 20-epimerase. Methods Enzymol 9:612-615
-
(1966)
Methods Enzymol
, vol.9
, pp. 612-615
-
-
Spivak, C.T.1
Roseman, S.2
-
18
-
-
0015503856
-
Uridine diphosphate N-acetyl-D-glucosamine 2-epimerase from rat liver. I. Catalytic and regulatory properties
-
Sommar KM, Ellis DB (1972) Uridine diphosphate N-acetyl-D-glucosamine 2-epimerase from rat liver. I. Catalytic and regulatory properties. Biochim Biophys Acta 268:581-589
-
(1972)
Biochim Biophys Acta
, vol.268
, pp. 581-589
-
-
Sommar, K.M.1
Ellis, D.B.2
-
19
-
-
0015897980
-
Purification and properties of UDP-N-acetylglucosamine 20-epimerase from rat liver
-
Kikuchi K, Tsuiki S (1973) Purification and properties of UDP-N-acetylglucosamine 20-epimerase from rat liver. Biochim Biophys Acta 327:193-206
-
(1973)
Biochim Biophys Acta
, vol.327
, pp. 193-206
-
-
Kikuchi, K.1
Tsuiki, S.2
-
20
-
-
0014011699
-
The sialic acids. VII. N-Acyl-D-mannosamine kinase from rat liver
-
Kundig W, Gosh S, Roseman S (1966) The sialic acids. VII. N-Acyl-D-mannosamine kinase from rat liver. J Biol Chem 241:5619-5626
-
(1966)
J Biol Chem
, vol.241
, pp. 5619-5626
-
-
Kundig, W.1
Gosh, S.2
Roseman, S.3
-
22
-
-
0024443846
-
Identification of the metabolic defect in sialuria
-
Weiss P, Tietze F, Gahl WA, Seppala R, Ashwell G (1989) Identification of the metabolic defect in sialuria. J Biol Chem 264:17635-17636
-
(1989)
J Biol Chem
, vol.264
, pp. 17635-17636
-
-
Weiss, P.1
Tietze, F.2
Gahl, W.A.3
Seppala, R.4
Ashwell, G.5
-
23
-
-
0033559234
-
Tissue expression and amino acid sequence of murine UDP-N-acetylglucosamine-2-epimerase/ N-acetylmannosamine kinase
-
Horstkorte R, Nöhring S,Wiechens N, Schwarzkopf M, Danker K, ReutterW, Lucka L (1999) Tissue expression and amino acid sequence of murine UDP-N-acetylglucosamine-2-epimerase/ N-acetylmannosamine kinase. Eur J Biochem 260:923-927
-
(1999)
Eur J Biochem
, vol.260
, pp. 923-927
-
-
Horstkorte, R.1
Nöhring, S.2
Wiechens, N.3
Schwarzkopf, M.4
Danker, K.5
Reutter, W.6
Lucka, L.7
-
24
-
-
0033018503
-
Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis
-
Lucka L, Krause M, Danker K, Reutter W, Horstkorte R (1999) Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis. FEBS Lett 454:341-344
-
(1999)
FEBS Lett
, vol.454
, pp. 341-344
-
-
Lucka, L.1
Krause, M.2
Danker, K.3
Reutter, W.4
Horstkorte, R.5
-
25
-
-
0347362787
-
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 (2003) Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene. J Biol Chem 278:53045-53054
-
(2003)
J Biol Chem
, vol.278
, pp. 53045-53054
-
-
Hong, Y.1
Stanley, P.2
-
26
-
-
0039546871
-
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme
-
Seppala R, Lehto VP, Gahl WA (1999) 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 64:1563-1569
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1563-1569
-
-
Seppala, R.1
Lehto, V.P.2
Gahl, W.A.3
-
27
-
-
0035006049
-
Metabolic selection of glycosylation defects in human cells
-
Yarema KJ, Goon S, Bertozzi CR (2001) Metabolic selection of glycosylation defects in human cells. Nat Biotechnol 19:553-558
-
(2001)
Nat Biotechnol
, vol.19
, pp. 553-558
-
-
Yarema, K.J.1
Goon, S.2
Bertozzi, C.R.3
-
28
-
-
0033591388
-
UDP-GlcNAc 2-epimerase: A regulator of cell surface sialylation
-
Keppler OT, Hinderlich S, Langner J, Schwartz-Albiez R, Reutter W, Pawlita M (1999) UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. Science 284:1372-1376
-
(1999)
Science
, vol.284
, pp. 1372-1376
-
-
Keppler, O.T.1
Hinderlich, S.2
Langner, J.3
Schwartz-Albiez, R.4
Reutter, W.5
Pawlita, M.6
-
29
-
-
0037117532
-
Sialylation is essential for early development in mice
-
Schwarzkopf M, Knobeloch KP, Rohde E, Hinderlich S, Wiechens N, Lucka L, Horak I, Reutter W, Horstkorte R (2002) Sialylation is essential for early development in mice. Proc Natl Acad Sci U S A 99:5267-5270
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 5267-5270
-
-
Schwarzkopf, M.1
Knobeloch, K.P.2
Rohde, E.3
Hinderlich, S.4
Wiechens, N.5
Lucka, L.6
Horak, I.7
Reutter, W.8
Horstkorte, R.9
-
30
-
-
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, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 29:83-87
-
(2001)
Nat Genet
, vol.29
, pp. 83-87
-
-
Eisenberg, I.1
Avidan, N.2
Potikha, T.3
Hochner, H.4
Chen, M.5
Olender, T.6
Barash, M.7
Shemesh, M.8
Sadeh, M.9
Grabov-Nardini, G.10
Shmilevich, I.11
Friedmann, A.12
Karpati, G.13
Bradley, W.G.14
Baumbach, L.15
Lancet, D.16
Asher, E.B.17
Beckmann, J.S.18
Argov, Z.19
Mitrani-Rosenbaum, S.20
more..
-
31
-
-
0041570132
-
Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: Exclusion of GNE and three other candidate genes
-
Watts GD, Thorne M, Kovach MJ, Pestronk A, Kimonis VE (2003) Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. Neuromuscul Disord 13:559-567
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 559-567
-
-
Watts, G.D.1
Thorne, M.2
Kovach, M.J.3
Pestronk, A.4
Kimonis, V.E.5
-
32
-
-
34250821621
-
Prediction of three different isoforms of the human UDP-Nacetylglucosamine 2-epimerase/N-acetylmannosamine kinase
-
Reinke SO, Hinderlich S (2007) Prediction of three different isoforms of the human UDP-Nacetylglucosamine 2-epimerase/N-acetylmannosamine kinase. FEBS Lett 581:3327-3331
-
(2007)
FEBS Lett
, vol.581
, pp. 3327-3331
-
-
Reinke, S.O.1
Hinderlich, S.2
-
33
-
-
80054756411
-
Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase
-
Yardeni T, Choekyi T, Jacobs K, Ciccone C, Patzel K, Anikster Y, Gahl WA, Kurochkina N, Huizing M (2011) Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. Biochemistry 50:8914-8925
-
(2011)
Biochemistry
, vol.50
, pp. 8914-8925
-
-
Yardeni, T.1
Choekyi, T.2
Jacobs, K.3
Ciccone, C.4
Patzel, K.5
Anikster, Y.6
Gahl, W.A.7
Kurochkina, N.8
Huizing, M.9
-
34
-
-
84938329836
-
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, HuizingM(2012) Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: secondary structures, expression profiles, and response to ManNAc therapy. Glycoconj J epub
-
(2012)
Glycoconj Jepub
-
-
Yardeni, T.1
Jacobs, K.2
Niethamer, T.K.3
Ciccone, C.4
Anikster, Y.5
Kurochkina, N.6
Gahl, W.A.7
Huizing, M.8
-
35
-
-
56049088266
-
Mitochondrial processes are impaired in hereditary inclusion body myopathy
-
Eisenberg I, Novershtern N, Itzhaki Z, Becker-Cohen M, Sadeh M, Willems PH, Friedman N, KoopmanWJ,Mitrani-RosenbaumS (2008) Mitochondrial processes are impaired in hereditary inclusion body myopathy. Hum Mol Genet 17:3663-3674
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3663-3674
-
-
Eisenberg, I.1
Novershtern, N.2
Itzhaki, Z.3
Becker-Cohen, M.4
Sadeh, M.5
Willems, P.H.6
Friedman, N.7
Koopman, W.J.8
Mitrani-RosenbaumS9
-
36
-
-
79551652676
-
The proteomic profile of hereditary inclusion body myopathy
-
Sela I, Milman Krentsis I, Shlomai Z, Sadeh M, Dabby R, Argov Z, Ben-Bassat H, Mitrani- Rosenbaum S (2011) The proteomic profile of hereditary inclusion body myopathy. PLoS One 6:e16334
-
(2011)
PLoS One
, vol.6
-
-
Sela, I.1
Milman Krentsis, I.2
Shlomai, Z.3
Sadeh, M.4
Dabby, R.5
Argov, Z.6
Ben-Bassat, H.7
Mitrani-Rosenbaum, S.8
-
37
-
-
34249874096
-
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 (2007) Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest 117:1585-1594
-
(2007)
J Clin Invest
, vol.117
, pp. 1585-1594
-
-
Galeano, B.1
Klootwijk, R.2
Manoli, I.3
Sun, M.4
Ciccone, C.5
Darvish, D.6
Starost, M.F.7
Zerfas, P.M.8
Hoffmann, V.J.9
Hoogstraten-Miller, S.10
Krasnewich, D.M.11
Gahl, W.A.12
Huizing, M.13
-
38
-
-
68149131942
-
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 (2009) Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis. Biol Chem 390:591-599
-
(2009)
Biol Chem
, vol.390
, pp. 591-599
-
-
Reinke, S.O.1
Lehmer, G.2
Hinderlich, S.3
Reutter, W.4
-
39
-
-
64149117237
-
Biochemical characterization of human and murine isoforms of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)
-
Reinke SO, Eidenschink C, Jay CM, Hinderlich S (2009) Biochemical characterization of human and murine isoforms of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Glycoconj J 26:415-422
-
(2009)
Glycoconj J
, vol.26
, pp. 415-422
-
-
Reinke, S.O.1
Eidenschink, C.2
Jay, C.M.3
Hinderlich, S.4
-
40
-
-
0042160074
-
Epigenetically mediated loss of UDP-GlcNAc 2-epimerase/ManNAc kinase expression in hyposialylated cell lines
-
Oetke C, Hinderlich S, Reutter W, Pawlita M (2003) Epigenetically mediated loss of UDP-GlcNAc 2-epimerase/ManNAc kinase expression in hyposialylated cell lines. Biochem Biophys Res Commun 308:892-898
-
(2003)
Biochem Biophys Res Commun
, vol.308
, pp. 892-898
-
-
Oetke, C.1
Hinderlich, S.2
Reutter, W.3
Pawlita, M.4
-
41
-
-
10044287090
-
Epigenetic reprogramming of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) in HIV-1-infected CEM T cells
-
Giordanengo V, Ollier L, Lanteri M, Lesimple J, March D, Thyss S, Lefebvre JC (2004) Epigenetic reprogramming of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) in HIV-1-infected CEM T cells. FASEB J 18:1961-1963
-
(2004)
FASEB J
, vol.18
, pp. 1961-1963
-
-
Giordanengo, V.1
Ollier, L.2
Lanteri, M.3
Lesimple, J.4
March, D.5
Thyss, S.6
Lefebvre, J.C.7
-
42
-
-
0033215205
-
Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase due to sitedirected mutagenesis based on sequence alignments
-
Effertz K, Hinderlich S, Reutter W (1999) Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase due to sitedirected mutagenesis based on sequence alignments. J Biol Chem 274:28771-28778
-
(1999)
J Biol Chem
, vol.274
, pp. 28771-28778
-
-
Effertz, K.1
Hinderlich, S.2
Reutter, W.3
-
43
-
-
10944220454
-
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 (2004) Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Biochem J 384:599-607
-
(2004)
Biochem J
, vol.384
, pp. 599-607
-
-
Blume, A.1
Weidemann, W.2
Stelzl, U.3
Wanker, E.E.4
Lucka, L.5
Donner, P.6
Reutter, W.7
Horstkorte, R.8
Hinderlich, S.9
-
44
-
-
2342500835
-
Distal myopathy with rimmed vacuoles (DMRV): New GNE mutations and splice variant
-
Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H (2004) Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. Neurology 62:1607-1610
-
(2004)
Neurology
, vol.62
, pp. 1607-1610
-
-
Tomimitsu, H.1
Shimizu, J.2
Ishikawa, K.3
Ohkoshi, N.4
Kanazawa, I.5
Mizusawa, H.6
-
45
-
-
34248205764
-
Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods
-
Ghaderi D, Strauss HM, Reinke S, Cirak S, Reutter W, Lucka L, Hinderlich S (2007) Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods. J Mol Biol 369:746-758
-
(2007)
J Mol Biol
, vol.369
, pp. 746-758
-
-
Ghaderi, D.1
Strauss, H.M.2
Reinke, S.3
Cirak, S.4
Reutter, W.5
Lucka, L.6
Hinderlich, S.7
-
46
-
-
33644689755
-
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 (2006) Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. Biochemistry 45:2968-2977
-
(2006)
Biochemistry
, vol.45
, pp. 2968-2977
-
-
Penner, J.1
Mantey, L.R.2
Elgavish, S.3
Ghaderi, D.4
Cirak, S.5
Berger, M.6
Krause, S.7
Lucka, L.8
Voit, T.9
Mitrani-Rosenbaum, S.10
Hinderlich, S.11
-
47
-
-
77949894342
-
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, HuizingM(2010) Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. Glycobiology 20:322-337
-
(2010)
Glycobiology
, vol.20
, pp. 322-337
-
-
Kurochkina, N.1
Yardeni, T.2
Huizing, M.3
-
48
-
-
70449359887
-
Crystal structure of the N-acetylmannosamine kinase domain of GNE
-
Tong Y, Tempel W, Nedyalkova L, Mackenzie F, Park HW (2009) Crystal structure of the N-acetylmannosamine kinase domain of GNE. PLoS One 4:e7165
-
(2009)
PLoS One
, vol.4
-
-
Tong, Y.1
Tempel, W.2
Nedyalkova, L.3
Mackenzie, F.4
Park, H.W.5
-
49
-
-
84859997945
-
Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition
-
Martinez J, Nguyen LD, Hinderlich S, Zimmer R, Tauberger E, Reutter W, Saenger W, Fan H, Moniot S (2012) Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition. J Biol Chem 287:13656-13665
-
(2012)
J Biol Chem
, vol.287
, pp. 13656-13665
-
-
Martinez, J.1
Nguyen, L.D.2
Hinderlich, S.3
Zimmer, R.4
Tauberger, E.5
Reutter, W.6
Saenger, W.7
Fan, H.8
Moniot, S.9
-
50
-
-
0142213311
-
Interdomain communications in bifunctional enzymes: How are different activities coordinated?
-
Nagradova N (2003) Interdomain communications in bifunctional enzymes: how are different activities coordinated? IUBMB Life 55:459-466
-
(2003)
IUBMB Life
, vol.55
, pp. 459-466
-
-
Nagradova, N.1
-
51
-
-
0014952499
-
Studies on the mechanism of action of uridine diphosphate N-acetylglucosamine 2-epimerase
-
Salo WL, Fletcher HG (1970) Studies on the mechanism of action of uridine diphosphate N-acetylglucosamine 2-epimerase. Biochemistry 9:878-881
-
(1970)
Biochemistry
, vol.9
, pp. 878-881
-
-
Salo, W.L.1
Fletcher, H.G.2
-
52
-
-
11244249454
-
Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR: I. Investigation of the UDP-GlcNAc 2-epimerase functionality
-
Blume A, Benie AJ, Stolz F, Schmidt RR, Reutter W, Hinderlich S, Peters T (2004) Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR: I. Investigation of the UDP-GlcNAc 2-epimerase functionality. J Biol Chem 279:55715-55721
-
(2004)
J Biol Chem
, vol.279
, pp. 55715-55721
-
-
Blume, A.1
Benie, A.J.2
Stolz, F.3
Schmidt, R.R.4
Reutter, W.5
Hinderlich, S.6
Peters, T.7
-
53
-
-
0242585466
-
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 (2003) Sialic acid biosynthesis: stereochemistry and mechanism of the reaction catalyzed by the mammalian UDP-N-acetylglucosamine 2-epimerase. J Am Chem Soc 125:2455-2461
-
(2003)
J Am Chem Soc
, vol.125
, pp. 2455-2461
-
-
Chou, W.K.1
Hinderlich, S.2
Reutter, W.3
Tanner, M.E.4
-
54
-
-
0034642186
-
The structure of UDP-Nacetylglucosamine 2-epimerase reveals homology to phosphoglycosyl transferases
-
Campbell RE, Mosimann SC, Tanner ME, Strynadka NC (2000) The structure of UDP-Nacetylglucosamine 2-epimerase reveals homology to phosphoglycosyl transferases. Biochemistry 39:14993-15001
-
(2000)
Biochemistry
, vol.39
, pp. 14993-15001
-
-
Campbell, R.E.1
Mosimann, S.C.2
Tanner, M.E.3
Strynadka, N.C.4
-
55
-
-
0015503857
-
Uridine diphosphate N-acetyl-D-glucosamine 2-epimerase from rat liver. II. Studies on the mechanism of action
-
Sommar KM, Ellis DG (1972) Uridine diphosphate N-acetyl-D-glucosamine 2-epimerase from rat liver. II. Studies on the mechanism of action. Biochim Biophys Acta 268:590-595
-
(1972)
Biochim Biophys Acta
, vol.268
, pp. 590-595
-
-
Sommar, K.M.1
Ellis, D.G.2
-
56
-
-
0018341948
-
2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria
-
Kamerling JP, Strecker G, Farriaux JP, Dorland L, Haverkamp J, Vliegenthart JF (1979) 2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. Biochim Biophys Acta 583:403-408
-
(1979)
Biochim Biophys Acta
, vol.583
, pp. 403-408
-
-
Kamerling, J.P.1
Strecker, G.2
Farriaux, J.P.3
Dorland, L.4
Haverkamp, J.5
Vliegenthart, J.F.6
-
57
-
-
11244265883
-
Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR. II. Investigation of the ManNAc kinase functionality
-
Benie AJ, Blume A, Schmidt RR, Reutter W, Hinderlich S, Peters T (2004) Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR. II. Investigation of the ManNAc kinase functionality. J Biol Chem 279:55722-55727
-
(2004)
J Biol Chem
, vol.279
, pp. 55722-55727
-
-
Benie, A.J.1
Blume, A.2
Schmidt, R.R.3
Reutter, W.4
Hinderlich, S.5
Peters, T.6
-
58
-
-
71049165059
-
Metabolic glycoengineering: Sialic acid and beyond
-
Du J, Meledeo MA, Wang Z, Khanna HS, Paruchuri VD, Yarema KJ (2009) Metabolic glycoengineering: sialic acid and beyond. Glycobiology 19:1382-1401
-
(2009)
Glycobiology
, vol.19
, pp. 1382-1401
-
-
Du, J.1
Meledeo, M.A.2
Wang, Z.3
Khanna, H.S.4
Paruchuri, V.D.5
Yarema, K.J.6
-
59
-
-
0019631243
-
The stereochemical course of yeast hexokinase-catalysed phosphoryl transfer by using adenosine 5'[gamma(S)-16O,17O,18O]triphosphate as substrate
-
Lowe G, Potter BV (1981) The stereochemical course of yeast hexokinase-catalysed phosphoryl transfer by using adenosine 5'[gamma(S)-16O,17O,18O]triphosphate as substrate. Biochem J 199:227-233
-
(1981)
Biochem J
, vol.199
, pp. 227-233
-
-
Lowe, G.1
Potter, B.V.2
-
60
-
-
0020092918
-
The stereochemical course of phosphoryl transfer catalysed by glucokinase
-
Pollard-Knight D, Potter BV, Cullis PM, Lowe G, Cornish-Bowden A (1982) The stereochemical course of phosphoryl transfer catalysed by glucokinase. Biochem J 201:421-423
-
(1982)
Biochem J
, vol.201
, pp. 421-423
-
-
Pollard-Knight, D.1
Potter, B.V.2
Cullis, P.M.3
Lowe, G.4
Cornish-Bowden, A.5
-
61
-
-
33847650003
-
Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)-deficient mice
-
Gagiannis D, Orthmann A, Danssmann I, Schwarzkopf M, Weidemann W, Horstkorte R (2007) Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)-deficient mice. Glycoconj J 24:125-130
-
(2007)
Glycoconj J
, vol.24
, pp. 125-130
-
-
Gagiannis, D.1
Orthmann, A.2
Danssmann, I.3
Schwarzkopf, M.4
Weidemann, W.5
Horstkorte, R.6
-
62
-
-
0023106473
-
Transient expression of sialylated glycans during glycoprotein processing by embryonal carcinomas
-
Ivatt RJ (1987) Transient expression of sialylated glycans during glycoprotein processing by embryonal carcinomas. Biochem Biophys Res Commun 142:489-495
-
(1987)
Biochem Biophys Res Commun
, vol.142
, pp. 489-495
-
-
Ivatt, R.J.1
-
63
-
-
0028303227
-
Polysialic acid of the neural cell adhesion molecule (N-CAM) is widely expressed during organogenesis in mesodermal and endodermal derivatives
-
Lackie PM, Zuber C, Roth J (1994) Polysialic acid of the neural cell adhesion molecule (N-CAM) is widely expressed during organogenesis in mesodermal and endodermal derivatives. Differentiation 57:119-131
-
(1994)
Differentiation
, vol.57
, pp. 119-131
-
-
Lackie, P.M.1
Zuber, C.2
Roth, J.3
-
64
-
-
70849098887
-
Lessons from GNE-deficient embryonic stem cells: Sialic acid biosynthesis is involved in proliferation and gene expression
-
Weidemann W, Klukas C, Klein A, Simm A, Schreiber F, Horstkorte R (2010) Lessons from GNE-deficient embryonic stem cells: sialic acid biosynthesis is involved in proliferation and gene expression. Glycobiology 30:107-117
-
(2010)
Glycobiology
, vol.30
, pp. 107-117
-
-
Weidemann, W.1
Klukas, C.2
Klein, A.3
Simm, A.4
Schreiber, F.5
Horstkorte, R.6
-
66
-
-
0019310624
-
Metabolism of sialic acid in regenerating rat liver
-
Okamoto Y, Akamatsu N (1980) Metabolism of sialic acid in regenerating rat liver. Biochem J 188:905-911
-
(1980)
Biochem J
, vol.188
, pp. 905-911
-
-
Okamoto, Y.1
Akamatsu, N.2
-
67
-
-
0017392774
-
Regulation of N-acetylneuraminic acid synthesis following injury and partial hepatectomy
-
Okubo H, Shibata K, Ishibashi H, Yanase T (1977) Regulation of N-acetylneuraminic acid synthesis following injury and partial hepatectomy. Proc Soc Exp Biol Med 155:152-156
-
(1977)
Proc Soc Exp Biol Med
, vol.155
, pp. 152-156
-
-
Okubo, H.1
Shibata, K.2
Ishibashi, H.3
Yanase, T.4
-
68
-
-
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, Horstkorte R, Wiendl H, Argov Z, Mitrani-Rosenbaum S, Lochmuller H (2005) Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Exp Cell Res 304:365-379
-
(2005)
Exp Cell Res
, vol.304
, pp. 365-379
-
-
Krause, S.1
Hinderlich, S.2
Amsili, S.3
Horstkorte, R.4
Wiendl, H.5
Argov, Z.6
Mitrani-Rosenbaum, S.7
Lochmuller, H.8
-
69
-
-
0029984363
-
Determination of cytidine 5'-monophospho-Nacetylneuraminic acid pool size in cell culture scale using high-performance anion-exchange chromatography with pulsed amperometric detection
-
Fritsch M, Geilen CC, Reutter W (1996) Determination of cytidine 5'-monophospho-Nacetylneuraminic acid pool size in cell culture scale using high-performance anion-exchange chromatography with pulsed amperometric detection. J Chromatogr A 727:223-230
-
(1996)
J Chromatogr A
, vol.727
, pp. 223-230
-
-
Fritsch, M.1
Geilen, C.C.2
Reutter, W.3
-
70
-
-
0342748521
-
Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase
-
Horstkorte R, Nöhring S, Danker K, Effertz K, Reutter W, Lucka L (2000) Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase. FEBS Lett 470:315-318
-
(2000)
FEBS Lett
, vol.470
, pp. 315-318
-
-
Horstkorte, R.1
Nöhring, S.2
Danker, K.3
Effertz, K.4
Reutter, W.5
Lucka, L.6
-
71
-
-
79959381299
-
Cross talk between O-GlcNAcylation and phosphorylation: Roles in signaling, transcription, and chronic disease
-
Hart GW, Slawson C, Ramirez-Correa G, Lagerlof O (2011) Cross talk between O-GlcNAcylation and phosphorylation: roles in signaling, transcription, and chronic disease. Annu Rev Biochem 80:825-858
-
(2011)
Annu Rev Biochem
, vol.80
, pp. 825-858
-
-
Hart, G.W.1
Slawson, C.2
Ramirez-Correa, G.3
Lagerlof, O.4
-
72
-
-
33751540141
-
The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis
-
Weidemann W, Stelzl U, Lisewski U, Bork K, Wanker EE, Hinderlich S, Horstkorte R (2006) The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis. FEBS Lett 580:6649-6654
-
(2006)
FEBS Lett
, vol.580
, pp. 6649-6654
-
-
Weidemann, W.1
Stelzl, U.2
Lisewski, U.3
Bork, K.4
Wanker, E.E.5
Hinderlich, S.6
Horstkorte, R.7
-
73
-
-
0029132912
-
Collapsin-induced growth cone collapse mediated by an intracellular protein related to UNC-33
-
Goshima Y, Nakamura F, Strittmatter P, Strittmatter SM (1995) Collapsin-induced growth cone collapse mediated by an intracellular protein related to UNC-33. Nature 376:509-514
-
(1995)
Nature
, vol.376
, pp. 509-514
-
-
Goshima, Y.1
Nakamura, F.2
Strittmatter, P.3
Strittmatter, S.M.4
-
74
-
-
0037219922
-
Collapsin response mediator protein-1: A novel invasion-suppressor gene
-
Shih JY, Lee YC, Yang SC, Hong TM, Huang CY, Yang PC (2003) Collapsin response mediator protein-1: a novel invasion-suppressor gene. Clin Exp Metastasis 20:69-76
-
(2003)
Clin Exp Metastasis
, vol.20
, pp. 69-76
-
-
Shih, J.Y.1
Lee, Y.C.2
Yang, S.C.3
Hong, T.M.4
Huang, C.Y.5
Yang, P.C.6
-
75
-
-
0030597343
-
A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution
-
Hamajima N, Matsuda K, Sakata S, Tamaki N, Sasaki M, Nonaka M (1996) A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution. Gene 180:157-163
-
(1996)
Gene
, vol.180
, pp. 157-163
-
-
Hamajima, N.1
Matsuda, K.2
Sakata, S.3
Tamaki, N.4
Sasaki, M.5
Nonaka, M.6
-
76
-
-
0037109758
-
Biochemical engineering of cell surface sialic acids stimulates axonal outgrowth
-
Büttner B, Kannicht C, Löster K, Reutter W, Lee H-Y, Nöhring S, Horstkorte R (2002) Biochemical engineering of cell surface sialic acids stimulates axonal outgrowth. J Neurosci 22:8869-8875
-
(2002)
J Neurosci
, vol.22
, pp. 8869-8875
-
-
Büttner, B.1
Kannicht, C.2
Löster, K.3
Reutter, W.4
Lee, H.-Y.5
Nöhring, S.6
Horstkorte, R.7
-
77
-
-
0001281430
-
Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A
-
Yeyati PL, Shaknovich R, Boterashvili S, Li J, Ball HJ, Waxman S, Nason-Burchenal K, Dmitrovsky E, Zelent A, Licht JD (1999) Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A. Oncogene 18:925-934
-
(1999)
Oncogene
, vol.18
, pp. 925-934
-
-
Yeyati, P.L.1
Shaknovich, R.2
Boterashvili, S.3
Li, J.4
Ball, H.J.5
Waxman, S.6
Nason-Burchenal, K.7
Dmitrovsky, E.8
Zelent, A.9
Licht, J.D.10
-
78
-
-
0036775103
-
Plzf mediates transcriptional repression of HoxD gene expression through chromatin remodeling
-
Barna M, Merghoub T, Costoya JA, Ruggero D, Branford M, Bergia A, Samori B, Pandolfi PP (2002) Plzf mediates transcriptional repression of HoxD gene expression through chromatin remodeling. Dev Cell 3:499-510
-
(2002)
Dev Cell
, vol.3
, pp. 499-510
-
-
Barna, M.1
Merghoub, T.2
Costoya, J.A.3
Ruggero, D.4
Branford, M.5
Bergia, A.6
Samori, B.7
Pandolfi, P.P.8
-
79
-
-
2442529664
-
Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family
-
Pintard L, Willems A, Peter M (2004) Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family. EMBO J 23:1681-1687
-
(2004)
EMBO J
, vol.23
, pp. 1681-1687
-
-
Pintard, L.1
Willems, A.2
Peter, M.3
-
80
-
-
10744230356
-
A novel angiotensin II type 2 receptor signaling pathway: Possible role in cardiac hypertrophy
-
Senbonmatsu T, Saito T, Landon EJ, Watanabe O, Price E Jr, Roberts RL, Imboden H, Fitzgerald TG, Gaffney FA, Inagami T (2003) A novel angiotensin II type 2 receptor signaling pathway: possible role in cardiac hypertrophy. EMBO J 22:6471-6482
-
(2003)
EMBO J
, vol.22
, pp. 6471-6482
-
-
Senbonmatsu, T.1
Saito, T.2
Landon, E.J.3
Watanabe, O.4
Price, E.5
Roberts, R.L.6
Imboden, H.7
Fitzgerald, T.G.8
Gaffney, F.A.9
Inagami, T.10
-
81
-
-
78649993112
-
The promyelocytic leukemia zinc finger (PLZF) protein exerts neuroprotective effects in neuronal cells and is dysregulated in experimental stroke
-
Seidel K, Kirsch S, Lucht K, Zaade D, Reinemund J, Schmitz J, Klare S, Li Y, Schefe JH, Schmerbach K, Goldin-Lang P, Zollmann FS, Thöne-Reineke C, Unger T, Funke-Kaiser H (2011) The promyelocytic leukemia zinc finger (PLZF) protein exerts neuroprotective effects in neuronal cells and is dysregulated in experimental stroke. Brain Pathol 21:31-43
-
(2011)
Brain Pathol
, vol.21
, pp. 31-43
-
-
Seidel, K.1
Kirsch, S.2
Lucht, K.3
Zaade, D.4
Reinemund, J.5
Schmitz, J.6
Klare, S.7
Li, Y.8
Schefe, J.H.9
Schmerbach, K.10
Goldin-Lang, P.11
Zollmann, F.S.12
Thöne-Reineke, C.13
Unger, T.14
Funke-Kaiser, H.15
-
82
-
-
49349097189
-
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 (2008) UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? PLoS One 3:e2477
-
(2008)
PLoS One
, vol.3
-
-
Amsili, S.1
Zer, H.2
Hinderlich, S.3
Krause, S.4
Becker-Cohen, M.5
MacArthur, D.G.6
North, K.N.7
Mitrani-Rosenbaum, S.8
-
83
-
-
0014310197
-
Description of a new type of melituria, called sialuria
-
Montreuil J, Biserte G, Strecker G, Spik G, Fontaine G, Farriaux JP (1968) Description of a new type of melituria, called sialuria. Clin Chim Acta 21:61-69
-
(1968)
Clin Chim Acta
, vol.21
, pp. 61-69
-
-
Montreuil, J.1
Biserte, G.2
Strecker, G.3
Spik, G.4
Fontaine, G.5
Farriaux, J.P.6
-
84
-
-
17144461584
-
Sialuria: An original metabolic disorder
-
Fontaine G, Biserte G, Montreuil J, Dupont A, Farriaux JP (1968) Sialuria: an original metabolic disorder. Helv Paediatr Acta 17:1-32
-
(1968)
Helv Paediatr Acta
, vol.17
, pp. 1-32
-
-
Fontaine, G.1
Biserte, G.2
Montreuil, J.3
Dupont, A.4
Farriaux, J.P.5
-
85
-
-
0025867020
-
Sialic acid metabolism in sialuria fibroblasts
-
Seppala R, Tietze F, Krasnewich D, Weiss P, Ashwell G, Barsh G, Thomas GH, Packman S, Gahl WA (1991) Sialic acid metabolism in sialuria fibroblasts. J Biol Chem 266:7456-7461
-
(1991)
J Biol Chem
, vol.266
, pp. 7456-7461
-
-
Seppala, R.1
Tietze, F.2
Krasnewich, D.3
Weiss, P.4
Ashwell, G.5
Barsh, G.6
Thomas, G.H.7
Packman, S.8
Gahl, W.A.9
-
86
-
-
0032783547
-
Sialuria in a Portuguese girl: Clinical, biochemical, and molecular characteristics
-
Ferreira H, Seppala R, Pinto R, Huizing M, Martins E, Braga AC, Gomes L, Krasnewich DM, Sa Miranda MC, Gahl WA (1999) Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. Mol Genet Metab 67:131-137
-
(1999)
Mol Genet Metab
, vol.67
, pp. 131-137
-
-
Ferreira, H.1
Seppala, R.2
Pinto, R.3
Huizing, M.4
Martins, E.5
Braga, A.C.6
Gomes, L.7
Krasnewich, D.M.8
Sa Miranda, M.C.9
Gahl, W.A.10
-
87
-
-
0034981941
-
Dominant inheritance of sialuria, an inborn error of feedback inhibition
-
Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA (2001) Dominant inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet 68:1419-1427
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1419-1427
-
-
Leroy, J.G.1
Seppala, R.2
Huizing, M.3
Dacremont, G.4
De Simpel, H.5
Van Coster, R.N.6
Orvisky, E.7
Krasnewich, D.M.8
Gahl, W.A.9
-
88
-
-
0034923851
-
Clinical course and biochemistry of sialuria
-
Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S (2001) Clinical course and biochemistry of sialuria. J Inherit Metab Dis 24:328-336
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 328-336
-
-
Enns, G.M.1
Seppala, R.2
Musci, T.J.3
Weisiger, K.4
Ferrell, L.D.5
Wenger, D.A.6
Gahl, W.A.7
Packman, S.8
-
89
-
-
0038153105
-
Sialic acid storage disease and related disorders
-
Strehle EM (2003) Sialic acid storage disease and related disorders. Genet Test 7:113-121
-
(2003)
Genet Test
, vol.7
, pp. 113-121
-
-
Strehle, E.M.1
-
90
-
-
24144491568
-
The intracellular concentration of sialic acid regulates the polysialylation of the neural cell adhesion molecule
-
Bork K, Reutter W, Gerardy-Schahn R, Horstkorte R (2005) The intracellular concentration of sialic acid regulates the polysialylation of the neural cell adhesion molecule. FEBS Lett 579:5079-5083
-
(2005)
FEBS Lett
, vol.579
, pp. 5079-5083
-
-
Bork, K.1
Reutter, W.2
Gerardy-Schahn, R.3
Horstkorte, R.4
-
91
-
-
79960209555
-
Enhanced sialylation of recombinant human EPO in Chinese hamster ovary cells by combinatorial engineering of selected genes
-
Son YD, Jeong YT, Park SY, Kim JH (2011) Enhanced sialylation of recombinant human EPO in Chinese hamster ovary cells by combinatorial engineering of selected genes. Glycobiology 21:1019-1028
-
(2011)
Glycobiology
, vol.21
, pp. 1019-1028
-
-
Son, Y.D.1
Jeong, Y.T.2
Park, S.Y.3
Kim, J.H.4
-
92
-
-
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 (2006) 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 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
-
93
-
-
68149118066
-
Increasing the sialylation of therapeutic glycoproteins: The potential of the sialic acid biosynthetic pathway
-
Bork K, Horstkorte R, Weidemann W (2009) Increasing the sialylation of therapeutic glycoproteins: the potential of the sialic acid biosynthetic pathway. J Pharm Sci 98:3499-3508
-
(2009)
J Pharm Sci
, vol.98
, pp. 3499-3508
-
-
Bork, K.1
Horstkorte, R.2
Weidemann, W.3
-
94
-
-
33745125998
-
Abnormal glycosylation with hypersialylated O-glycans in patients with sialuria
-
Wopereis S, Abd Hamid UM, Critchley A, Royle L, Dwek RA, Morava E, Leroy JG, Wilcken B, Lagerwerf AJ, Huijben KM, Lefeber DJ, Rudd PM, Wevers RA (2006) Abnormal glycosylation with hypersialylated O-glycans in patients with sialuria. Biochim Biophys Acta 1762:598-607
-
(2006)
Biochim Biophys Acta
, vol.1762
, pp. 598-607
-
-
Wopereis, S.1
Abd Hamid, U.M.2
Critchley, A.3
Royle, L.4
Dwek, R.A.5
Morava, E.6
Leroy, J.G.7
Wilcken, B.8
Lagerwerf, A.J.9
Huijben, K.M.10
Lefeber, D.J.11
Rudd, P.M.12
Wevers, R.A.13
-
95
-
-
0032493123
-
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 338:1352-1357
-
(1998)
N Engl J Med
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
Lieu, Y.K.2
Hsu, B.Y.3
Burlina, A.B.4
Greenberg, C.R.5
Hopwood, N.J.6
Perlman, K.7
Rich, B.H.8
Zammarchi, E.9
Poncz, M.10
-
96
-
-
0027314418
-
Clinical and biochemical studies in an American child with sialuria
-
Krasnewich DM, Tietze F, Krause W, Pretzlaff R, Wenger DA, Diwadkar V, Gahl WA (1993) Clinical and biochemical studies in an American child with sialuria. Biochem Med Metab Biol 49:90-96
-
(1993)
Biochem Med Metab Biol
, vol.49
, pp. 90-96
-
-
Krasnewich, D.M.1
Tietze, F.2
Krause, W.3
Pretzlaff, R.4
Wenger, D.A.5
Diwadkar, V.6
Gahl, W.A.7
-
97
-
-
0038132996
-
Allelespecific silencing of dominant disease genes
-
Miller VM, Xia H, Marrs GL, Gouvion CM, Lee G, Davidson BL, Paulson HL (2003) Allelespecific silencing of dominant disease genes. Proc Natl Acad Sci U S A 100:7195-7200
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 7195-7200
-
-
Miller, V.M.1
Xia, H.2
Marrs, G.L.3
Gouvion, C.M.4
Lee, G.5
Davidson, B.L.6
Paulson, H.L.7
-
98
-
-
55549138740
-
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference
-
Klootwijk RD, Savelkoul PJ, Ciccone C, Manoli I, Caplen NJ, Krasnewich DM, Gahl WA, Huizing M (2008) Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. FASEB J 22:3846-3852
-
(2008)
FASEB J
, vol.22
, pp. 3846-3852
-
-
Klootwijk, R.D.1
Savelkoul, P.J.2
Ciccone, C.3
Manoli, I.4
Caplen, N.J.5
Krasnewich, D.M.6
Gahl, W.A.7
Huizing, M.8
-
99
-
-
36849087968
-
Therapeutic application of RNAi: Is mRNA targeting finally ready for prime time?
-
Grimm D, Kay MA (2007) Therapeutic application of RNAi: is mRNA targeting finally ready for prime time? J Clin Invest 117:3633-3641
-
(2007)
J Clin Invest
, vol.117
, pp. 3633-3641
-
-
Grimm, D.1
Kay, M.A.2
-
100
-
-
0019481203
-
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
-
Nonaka I, Sunohara N, Ishiura S, Satoyoshi E (1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 51:141-155
-
(1981)
J Neurol Sci
, vol.51
, pp. 141-155
-
-
Nonaka, I.1
Sunohara, N.2
Ishiura, S.3
Satoyoshi, E.4
-
101
-
-
0021320516
-
"Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews
-
Argov Z, Yarom R (1984) "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. Neurol Sci 64:33-43
-
(1984)
Neurol Sci
, vol.64
, pp. 33-43
-
-
Argov, Z.1
Yarom, R.2
-
102
-
-
0037058765
-
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
-
Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I (2002) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 59:1689-1693
-
(2002)
Neurology
, vol.59
, pp. 1689-1693
-
-
Nishino, I.1
Noguchi, S.2
Murayama, K.3
Driss, A.4
Sugie, K.5
Oya, Y.6
Nagata, T.7
Chida, K.8
Takahashi, T.9
Takusa, Y.10
Ohi, T.11
Nishimiya, J.12
Sunohara, N.13
Ciafaloni, E.14
Kawai, M.15
Aoki, M.16
Nonaka, I.17
-
103
-
-
70249085865
-
Hereditary inclusion body myopathy: A decade of progress
-
Huizing M, Krasnewich DM (2009) Hereditary inclusion body myopathy: a decade of progress. Biochim Biophys Acta 1792:881-887
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 881-887
-
-
Huizing, M.1
Krasnewich, D.M.2
-
104
-
-
0029826654
-
The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews
-
Sivakumar K, Dalakas MC (1996) The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. Neurology 47:977-984
-
(1996)
Neurology
, vol.47
, pp. 977-984
-
-
Sivakumar, K.1
Dalakas, M.C.2
-
105
-
-
0028832396
-
New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies
-
Askanas V, Engel WK (1995) New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Curr Opin Rheumatol 7:486-496
-
(1995)
Curr Opin Rheumatol
, vol.7
, pp. 486-496
-
-
Askanas, V.1
Engel, W.K.2
-
107
-
-
0041624026
-
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation
-
Yabe I, Higashi T, Kikuchi S, Sasaki H, Fukazawa T, Yoshida K, Tashiro K (2003) GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. Neurology 61:384-386
-
(2003)
Neurology
, vol.61
, pp. 384-386
-
-
Yabe, I.1
Higashi, T.2
Kikuchi, S.3
Sasaki, H.4
Fukazawa, T.5
Yoshida, K.6
Tashiro, K.7
-
108
-
-
0028787389
-
Inclusion body myositis and myopathies
-
Griggs RC, Askanas V, DiMauro S, Engel A, Karpati G, Mendell JR, Rowland LP (1995) Inclusion body myositis and myopathies. Ann Neurol 38:705-713
-
(1995)
Ann Neurol
, vol.38
, pp. 705-713
-
-
Griggs, R.C.1
Askanas, V.2
DiMauro, S.3
Engel, A.4
Karpati, G.5
Mendell, J.R.6
Rowland, L.P.7
-
109
-
-
34250826506
-
Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
-
Malicdan MC, Noguchi S, Nishino I (2007) Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Autophagy 3:396-398
-
(2007)
Autophagy
, vol.3
, pp. 396-398
-
-
Malicdan, M.C.1
Noguchi, S.2
Nishino, I.3
-
110
-
-
53549111872
-
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: Treatment perspectives
-
Malicdan MC, Noguchi S, Nishino I (2008) Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives. Curr Opin Neurol 21:596-600
-
(2008)
Curr Opin Neurol
, vol.21
, pp. 596-600
-
-
Malicdan, M.C.1
Noguchi, S.2
Nishino, I.3
-
111
-
-
18744392293
-
Mutations spectrum of the GNE gene 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 (2003) Mutations spectrum of the GNE gene in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat 21:99
-
(2003)
Hum Mutat
, vol.21
, pp. 99
-
-
Eisenberg, I.1
Grabov-Nardini, G.2
Hochner, H.3
Korner, M.4
Sadeh, M.5
Bertorini, T.6
Bushby, K.7
Castellan, C.8
Felice, K.9
Mendell, J.10
Merlini, L.11
Shilling, C.12
Wirguin, I.13
Argov, Z.14
Mitrani-Rosenbaum, S.15
-
112
-
-
0037072252
-
Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene
-
Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H (2002) Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. Neurology 59:451-454
-
(2002)
Neurology
, vol.59
, pp. 451-454
-
-
Tomimitsu, H.1
Ishikawa, K.2
Shimizu, J.3
Ohkoshi, N.4
Kanazawa, I.5
Mizusawa, H.6
-
113
-
-
12144287262
-
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
-
Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, Oya Y, Imazawa M, Goto Y, Hayashi YK, Nonaka I, Nishino I (2004) Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem 279:11402-11407
-
(2004)
J Biol Chem
, vol.279
, pp. 11402-11407
-
-
Noguchi, S.1
Keira, Y.2
Murayama, K.3
Ogawa, M.4
Fujita, M.5
Kawahara, G.6
Oya, Y.7
Imazawa, M.8
Goto, Y.9
Hayashi, Y.K.10
Nonaka, I.11
Nishino, I.12
-
114
-
-
2442555152
-
The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy
-
Hinderlich S, Salama I, Eisenberg I, Potikha T, Mantey LR, Yarema KJ, Horstkorte R, Argov Z, Sadeh M, Reutter W, Mitrani-Rosenbaum S (2004) The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy. FEBS Lett 566:105-109
-
(2004)
FEBS Lett
, vol.566
, pp. 105-109
-
-
Hinderlich, S.1
Salama, I.2
Eisenberg, I.3
Potikha, T.4
Mantey, L.R.5
Yarema, K.J.6
Horstkorte, R.7
Argov, Z.8
Sadeh, M.9
Reutter, W.10
Mitrani-Rosenbaum, S.11
-
115
-
-
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
-
Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M (2005) 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 15:1102-1110
-
(2005)
Glycobiology
, vol.15
, pp. 1102-1110
-
-
Sparks, S.E.1
Ciccone, C.2
Lalor, M.3
Orvisky, E.4
Klootwijk, R.5
Savelkoul, P.J.6
Dalakas, M.C.7
Krasnewich, D.M.8
Gahl, W.A.9
Huizing, M.10
-
116
-
-
19944433043
-
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 (2005) No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem Biophys Res Commun 328:221-226
-
(2005)
Biochem Biophys Res Commun
, vol.328
, pp. 221-226
-
-
Salama, I.1
Hinderlich, S.2
Shlomai, Z.3
Eisenberg, I.4
Krause, S.5
Yarema, K.6
Argov, Z.7
Lochmuller, H.8
Reutter, W.9
Dabby, R.10
Sadeh, M.11
Ben-Bassat, H.12
Mitrani-Rosenbaum, S.13
-
117
-
-
0031004717
-
Molecular cloning and characterization of human podocalyxin-like protein. Orthologous relationship to rabbit PCLP1 and rat podocalyxin
-
Kershaw DB, Beck SG, Wharram BL, Wiggins JE, Goyal M, Thomas PE, Wiggins RC (1997) Molecular cloning and characterization of human podocalyxin-like protein. Orthologous relationship to rabbit PCLP1 and rat podocalyxin. J Biol Chem 272:15708-15714
-
(1997)
J Biol Chem
, vol.272
, pp. 15708-15714
-
-
Kershaw, D.B.1
Beck, S.G.2
Wharram, B.L.3
Wiggins, J.E.4
Goyal, M.5
Thomas, P.E.6
Wiggins, R.C.7
-
118
-
-
84869883180
-
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, HuizingM(2012) Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. Mol Genet Metab 107:748-755
-
(2012)
Mol Genet Metab
, vol.107
, pp. 748-755
-
-
Niethamer, T.K.1
Yardeni, T.2
Leoyklang, P.3
Ciccone, C.4
Astiz-Martinez, A.5
Jacobs, K.6
Dorward, H.M.7
Zerfas, P.M.8
Gahl, W.A.9
Huizing, M.10
-
119
-
-
35549010650
-
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 (2007) A GNE knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 16:2669-2682
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2669-2682
-
-
Malicdan, M.C.1
Noguchi, S.2
Nonaka, I.3
Hayashi, Y.K.4
Nishino, I.5
-
120
-
-
56149107232
-
Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM
-
Malicdan MC, Noguchi S, Hayashi YK, Nishino I (2008) Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM. Physiol Genomics 35:106-115
-
(2008)
Physiol Genomics
, vol.35
, pp. 106-115
-
-
Malicdan, M.C.1
Noguchi, S.2
Hayashi, Y.K.3
Nishino, I.4
-
121
-
-
67349234199
-
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
-
Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I (2009) Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med 15:690-695
-
(2009)
Nat Med
, vol.15
, pp. 690-695
-
-
Malicdan, M.C.1
Noguchi, S.2
Hayashi, Y.K.3
Nonaka, I.4
Nishino, I.5
-
122
-
-
33746305634
-
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusionbody myopathy
-
Savelkoul PJ, Manoli I, Sparks SE, Ciccone C, Gahl WA, Krasnewich DM, HuizingM(2006) Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusionbody myopathy. Mol Genet Metab 88:389-390
-
(2006)
Mol Genet Metab
, vol.88
, pp. 389-390
-
-
Savelkoul, P.J.1
Manoli, I.2
Sparks, S.E.3
Ciccone, C.4
Gahl, W.A.5
Krasnewich, D.M.6
Huizing, M.7
-
123
-
-
1242292943
-
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 (2004) Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab 81:196-202
-
(2004)
Mol Genet Metab
, vol.81
, pp. 196-202
-
-
Huizing, M.1
Rakocevic, G.2
Sparks, S.E.3
Mamali, I.4
Shatunov, A.5
Goldfarb, L.6
Krasnewich, D.7
Gahl, W.A.8
Dalakas, M.C.9
-
124
-
-
33645870439
-
NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations
-
Ricci E, Broccolini A, Gidaro T, Morosetti R, Gliubizzi C, Frusciante R, Di Lella GM, Tonali PA, Mirabella M(2006) NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. Neurology 66:755-758
-
(2006)
Neurology
, vol.66
, pp. 755-758
-
-
Ricci, E.1
Broccolini, A.2
Gidaro, T.3
Morosetti, R.4
Gliubizzi, C.5
Frusciante, R.6
Di Lella, G.M.7
Tonali, P.A.8
Mirabella, M.9
-
125
-
-
42449147150
-
Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle
-
Broccolini A, Gidaro T, De Cristofaro R, Morosetti R, Gliubizzi C, Ricci E, Tonali PA, Mirabella M (2008) Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle. J Neurochem 105:971-981
-
(2008)
J Neurochem
, vol.105
, pp. 971-981
-
-
Broccolini, A.1
Gidaro, T.2
De Cristofaro, R.3
Morosetti, R.4
Gliubizzi, C.5
Ricci, E.6
Tonali, P.A.7
Mirabella, M.8
-
126
-
-
20244374708
-
Distal myopathy with rimmed vacuoles: Impaired O-glycan formation in muscular glycoproteins
-
Tajima Y, Uyama E, Go S, Sato C, Tao N, Kotani M, Hino H, Suzuki A, Sanai Y, Kitajima K, Sakuraba H (2005) Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins. Am J Pathol 166:1121-1130
-
(2005)
Am J Pathol
, vol.166
, pp. 1121-1130
-
-
Tajima, Y.1
Uyama, E.2
Go, S.3
Sato, C.4
Tao, N.5
Kotani, M.6
Hino, H.7
Suzuki, A.8
Sanai, Y.9
Kitajima, K.10
Sakuraba, H.11
-
127
-
-
77956322898
-
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 (2010) Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease. PLoS One 5:e10055
-
(2010)
PLoS One
, vol.5
-
-
Paccalet, T.1
Coulombe, Z.2
Tremblay, J.P.3
-
128
-
-
34547895110
-
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 (2007) GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology 69:655-659
-
(2007)
Neurology
, vol.69
, pp. 655-659
-
-
Krause, S.1
Aleo, A.2
Hinderlich, S.3
Merlini, L.4
Tournev, I.5
Walter, M.C.6
Argov, Z.7
Mitrani-Rosenbaum, S.8
Lochmüller, H.9
-
129
-
-
35548931584
-
Characterization of hereditary inclusion body myopathy myoblasts: Possible primary impairment of apoptotic events
-
Amsili S, Shlomai Z, Levitzki R, Krause S, Lochmüller H, Ben-Bassat H, Mitrani- Rosenbaum S (2007) Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events. Cell Death Differ 14:1916-1924
-
(2007)
Cell Death Differ
, vol.14
, pp. 1916-1924
-
-
Amsili, S.1
Shlomai, Z.2
Levitzki, R.3
Krause, S.4
Lochmüller, H.5
Ben-Bassat, H.6
Mitrani-Rosenbaum, S.7
-
130
-
-
0037221855
-
Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review
-
Darvish D (2003) Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review. Med Hypotheses 60:94-101
-
(2003)
Med Hypotheses
, vol.60
, pp. 94-101
-
-
Darvish, D.1
-
131
-
-
33846946820
-
Intravenous immune globulin in hereditary inclusion body myopathy: A pilot study
-
Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA (2007) Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol 7:3
-
(2007)
BMC Neurol
, vol.7
, pp. 3
-
-
Sparks, S.1
Rakocevic, G.2
Joe, G.3
Manoli, I.4
Shrader, J.5
Harris-Love, M.6
Sonies, B.7
Ciccone, C.8
Dorward, H.9
Krasnewich, D.10
Huizing, M.11
Dalakas, M.C.12
Gahl, W.A.13
-
132
-
-
77957682833
-
Gene therapy for muscle disease
-
Miyagoe-Suzuki Y, Takeda S (2010) Gene therapy for muscle disease. Exp Cell Res 316:3087-3092
-
(2010)
Exp Cell Res
, vol.316
, pp. 3087-3092
-
-
Miyagoe-Suzuki, Y.1
Takeda, S.2
-
134
-
-
79851480413
-
Intramuscular cell transplantation as a potential treatment of myopathies: Clinical and preclinical relevant data
-
Skuk D, Tremblay JP (2011) Intramuscular cell transplantation as a potential treatment of myopathies: clinical and preclinical relevant data. Expert 11:359-374
-
(2011)
Expert
, vol.11
, pp. 359-374
-
-
Skuk, D.1
Tremblay, J.P.2
-
135
-
-
81855184520
-
Hereditary inclusion body myopathy: Single patient response to intravenous dosing of GNE gene lipoplex
-
Nemunaitis G, Jay CM, Maples PB, Gahl WA, Huizing M, Yardeni T, Tong AW, Phadke AP, Pappen BO, Bedell C, Allen H, Hernandez C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J (2011) Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex. Hum Gene Ther 22:1331-1341
-
(2011)
Hum Gene Ther
, vol.22
, pp. 1331-1341
-
-
Nemunaitis, G.1
Jay, C.M.2
Maples, P.B.3
Gahl, W.A.4
Huizing, M.5
Yardeni, T.6
Tong, A.W.7
Phadke, A.P.8
Pappen, B.O.9
Bedell, C.10
Allen, H.11
Hernandez, C.12
Templeton, N.S.13
Kuhn, J.14
Senzer, N.15
Nemunaitis, J.16
-
136
-
-
77952558706
-
Hereditary inclusion body myopathy: Single patient response to GNE gene lipoplex therapy
-
Nemunaitis G, Maples PB, Jay C, Gahl WA, Huizing M, Poling J, Tong AW, Phadke AP, Pappen BO, Bedell C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J (2010) Hereditary inclusion body myopathy: single patient response to GNE gene lipoplex therapy. J Gene Med 12:403-412
-
(2010)
J Gene Med
, vol.12
, pp. 403-412
-
-
Nemunaitis, G.1
Maples, P.B.2
Jay, C.3
Gahl, W.A.4
Huizing, M.5
Poling, J.6
Tong, A.W.7
Phadke, A.P.8
Pappen, B.O.9
Bedell, C.10
Templeton, N.S.11
Kuhn, J.12
Senzer, N.13
Nemunaitis, J.14
-
137
-
-
48149090000
-
Sialic acids in human health and disease
-
Varki A (2008) Sialic acids in human health and disease. Trends Mol Med 14:351-360
-
(2008)
Trends Mol Med
, vol.14
, pp. 351-360
-
-
Varki, A.1
-
138
-
-
0022006847
-
Studies on N-acetylneuraminic acid biosynthesis in chicken liver and hepatoma Mc-29 by using [14C] N-acetylmannosamine and [14C]glucosamine
-
Ivanov S, Gavazova E, Antonova M, Chelibonova-Lorer H (1985) Studies on N-acetylneuraminic acid biosynthesis in chicken liver and hepatoma Mc-29 by using [14C] N-acetylmannosamine and [14C]glucosamine. Int J Biochem 17:1125-1128
-
(1985)
Int J Biochem
, vol.17
, pp. 1125-1128
-
-
Ivanov, S.1
Gavazova, E.2
Antonova, M.3
Chelibonova-Lorer, H.4
-
139
-
-
53049089775
-
UDP-GlcNAc2-epimerase regulates cell surface sialylation and ceramide-induced cell death in human malignant lymphoma
-
Suzuki O, Tasaki K, Kusakabe T, Abe M (2008) UDP-GlcNAc2-epimerase regulates cell surface sialylation and ceramide-induced cell death in human malignant lymphoma. Int J Mol Med 22:339-348
-
(2008)
Int J Mol Med
, vol.22
, pp. 339-348
-
-
Suzuki, O.1
Tasaki, K.2
Kusakabe, T.3
Abe, M.4
-
140
-
-
0022976219
-
Calmodulin may decrease cell surface sialic acid and be involved in the expression of fibronectin during liver regeneration
-
Coll MJ, Serratosa J, Bachs O, Gahmberg CG, Enrich C (1986) Calmodulin may decrease cell surface sialic acid and be involved in the expression of fibronectin during liver regeneration. FEBS Lett 208:418-422
-
(1986)
FEBS Lett
, vol.208
, pp. 418-422
-
-
Coll, M.J.1
Serratosa, J.2
Bachs, O.3
Gahmberg, C.G.4
Enrich, C.5
-
141
-
-
84869021480
-
DNA hypomethylation and activation of germline-specific genes in cancer
-
De Smet C, Loriot A (2013) DNA hypomethylation and activation of germline-specific genes in cancer. Adv Exp Med Biol 754:149-166
-
(2013)
Adv Exp Med Biol
, vol.754
, pp. 149-166
-
-
De Smet, C.1
Loriot, A.2
-
142
-
-
0015326252
-
Regeneration of the surface glycoproteins of a transplantable mouse tumor cell after treatment with neuraminidase
-
Hughes RC, Sanford B, Jeanloz RW (1972) Regeneration of the surface glycoproteins of a transplantable mouse tumor cell after treatment with neuraminidase. Proc Natl Acad Sci U S A 69:942-945
-
(1972)
Proc Natl Acad Sci U S A
, vol.69
, pp. 942-945
-
-
Hughes, R.C.1
Sanford, B.2
Jeanloz, R.W.3
-
143
-
-
0017103652
-
Therapeutic effectiveness of neuraminidase-treated tumor cells as an immunogen in man and experimental animals with leukemia
-
Bekesi JG, Roboz JP, Holland JF (1976) Therapeutic effectiveness of neuraminidase-treated tumor cells as an immunogen in man and experimental animals with leukemia. Ann N Y Acad Sci 277:313-331
-
(1976)
Ann N Y Acad Sci
, vol.277
, pp. 313-331
-
-
Bekesi, J.G.1
Roboz, J.P.2
Holland, J.F.3
-
144
-
-
0019882914
-
Inhibition of in vitro biosynthesis of N-acetylneuraminic acid by N-acyl- and N-alkyl-2-amino-2-deoxyhexoses
-
Grünholz HJ, Harms E, Opetz M, Reutter W, Cerny M (1981) Inhibition of in vitro biosynthesis of N-acetylneuraminic acid by N-acyl- and N-alkyl-2-amino-2-deoxyhexoses. Carbohydr Res 96:259-270
-
(1981)
Carbohydr Res
, vol.96
, pp. 259-270
-
-
Grünholz, H.J.1
Harms, E.2
Opetz, M.3
Reutter, W.4
Cerny, M.5
-
145
-
-
0037134622
-
2',3'-Dialdehydo-UDP-Nacetylglucosamine inhibits UDP-N-acetylglucosamine 2-epimerase, the key enzyme of sialic acid biosynthesis
-
Blume A, Chen H, Reutter W, Schmidt RR, Hinderlich S (2002) 2',3'-Dialdehydo-UDP-Nacetylglucosamine inhibits UDP-N-acetylglucosamine 2-epimerase, the key enzyme of sialic acid biosynthesis. FEBS Lett 521:127-132
-
(2002)
FEBS Lett
, vol.521
, pp. 127-132
-
-
Blume, A.1
Chen, H.2
Reutter, W.3
Schmidt, R.R.4
Hinderlich, S.5
-
146
-
-
0026568532
-
Inhibition of N-acetylglucosamine kinase and N-acetylmannosamine kinase by 3-Omethyl- N-acetyl-D-glucosamine in vitro
-
Zeitler R, Giannis A, Danneschewski S, Henk E, Henk T, Bauer C, Reutter W, Sandhoff K (1992) Inhibition of N-acetylglucosamine kinase and N-acetylmannosamine kinase by 3-Omethyl- N-acetyl-D-glucosamine in vitro. Eur J Biochem 204:1165-1168
-
(1992)
Eur J Biochem
, vol.204
, pp. 1165-1168
-
-
Zeitler, R.1
Giannis, A.2
Danneschewski, S.3
Henk, E.4
Henk, T.5
Bauer, C.6
Reutter, W.7
Sandhoff, K.8
-
147
-
-
5444275838
-
Synthesis of thioglycoside-based UDP-sugar analogues
-
Zhu X, Stolz F, Schmidt RR (2004) Synthesis of thioglycoside-based UDP-sugar analogues. J Org Chem 69:7367-7370
-
(2004)
J Org Chem
, vol.69
, pp. 7367-7370
-
-
Zhu, X.1
Stolz, F.2
Schmidt, R.R.3
-
148
-
-
0842307444
-
Novel UDP-glycal derivatives as transition state analogue inhibitors of UDP-GlcNAc 2-epimerase
-
Stolz F, Reiner M, Blume A, Reutter W, Schmidt RR (2004) Novel UDP-glycal derivatives as transition state analogue inhibitors of UDP-GlcNAc 2-epimerase. J Org Chem 69:665-679
-
(2004)
J Org Chem
, vol.69
, pp. 665-679
-
-
Stolz, F.1
Reiner, M.2
Blume, A.3
Reutter, W.4
Schmidt, R.R.5
-
149
-
-
4544291552
-
Synthesis and biochemical properties of reversible inhibitors of UDP-N-acetylglucosamine 2-epimerase
-
Al-Rawi S, Hinderlich S, Reutter W, Giannis A (2004) Synthesis and biochemical properties of reversible inhibitors of UDP-N-acetylglucosamine 2-epimerase. Angew Chem Int Ed Engl 43:4366-4370
-
(2004)
Angew Chem Int Ed Engl
, vol.43
, pp. 4366-4370
-
-
Al-Rawi, S.1
Hinderlich, S.2
Reutter, W.3
Giannis, A.4
-
150
-
-
65349140628
-
Kinase-specific prediction of protein phosphorylation sites
-
Miller ML, Blom N (2009) Kinase-specific prediction of protein phosphorylation sites. Methods Mol Biol 527:299-310
-
(2009)
Methods Mol Biol
, vol.527
, pp. 299-310
-
-
Miller, M.L.1
Blom, N.2
-
151
-
-
0023228821
-
Sialuria: A second case
-
Wilcken B, Don N, Greenaway R, Hammond J, Sosula L (1987) Sialuria: a second case. J Inherit Metab Dis 10:97-102
-
(1987)
J Inherit Metab Dis
, vol.10
, pp. 97-102
-
-
Wilcken, B.1
Don, N.2
Greenaway, R.3
Hammond, J.4
Sosula, L.5
-
152
-
-
77951011482
-
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent
-
Saechao C, Valles-Ayoub Y, Esfandiarifard S, Haghighatgoo A, No D, Shook S, Mendell JR, Rosales-Quintero X, Felice KJ, Morel CF, Pietruska M, Darvish D (2010) Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. Genet Test Mol Biomarkers 14:157-162
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, pp. 157-162
-
-
Saechao, C.1
Valles-Ayoub, Y.2
Esfandiarifard, S.3
Haghighatgoo, A.4
No, D.5
Shook, S.6
Mendell, J.R.7
Rosales-Quintero, X.8
Felice, K.J.9
Morel, C.F.10
Pietruska, M.11
Darvish, D.12
-
153
-
-
31544474090
-
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
-
Kim BJ, Ki CS, Kim JW, Sung DH, Choi YC, Kim SH (2006) Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. J Hum Genet 51:137-140
-
(2006)
J Hum Genet
, vol.51
, pp. 137-140
-
-
Kim, B.J.1
Ki, C.S.2
Kim, J.W.3
Sung, D.H.4
Choi, Y.C.5
Kim, S.H.6
-
154
-
-
78751591293
-
Novel GNE mutations in two phenotypically distinct HIBM2 patients
-
Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M (2011) Novel GNE mutations in two phenotypically distinct HIBM2 patients. Neuromuscul Disord 21:102-105
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 102-105
-
-
Weihl, C.C.1
Miller, S.E.2
Zaidman, C.M.3
Pestronk, A.4
Baloh, R.H.5
Al-Lozi, M.6
-
155
-
-
4544304099
-
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy
-
Broccolini A, Ricci E, Cassandrini D, Gliubizzi C, Bruno C, Tonoli E, Silvestri G, Pescatori M, Rodolico C, Sinicropi S, Servidei S, Zara F, Minetti C, Tonali PA, Mirabella M (2004) Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. Hum Mutat 23:632
-
(2004)
Hum Mutat
, vol.23
, pp. 632
-
-
Broccolini, A.1
Ricci, E.2
Cassandrini, D.3
Gliubizzi, C.4
Bruno, C.5
Tonoli, E.6
Silvestri, G.7
Pescatori, M.8
Rodolico, C.9
Sinicropi, S.10
Servidei, S.11
Zara, F.12
Minetti, C.13
Tonali, P.A.14
Mirabella, M.15
-
156
-
-
79955506304
-
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles
-
Li H, Chen Q, Liu F, Zhang X, Liu T, Li W, Liu S, Zhao Y, Wen B, Dai T, Lin P, Gong Y, Yan C (2011) Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. J Hum Genet 56:335-338
-
(2011)
J Hum Genet
, vol.56
, pp. 335-338
-
-
Li, H.1
Chen, Q.2
Liu, F.3
Zhang, X.4
Liu, T.5
Li, W.6
Liu, S.7
Zhao, Y.8
Wen, B.9
Dai, T.10
Lin, P.11
Gong, Y.12
Yan, C.13
-
157
-
-
33845309442
-
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand
-
Liewluck T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Raksadawan N, Murayama K, Hayashi YK, Nishino I, Sangruchi T (2006) Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. Muscle Nerve 34:775-778
-
(2006)
Muscle Nerve
, vol.34
, pp. 775-778
-
-
Liewluck, T.1
Pho-Iam, T.2
Limwongse, C.3
Thongnoppakhun, W.4
Boonyapisit, K.5
Raksadawan, N.6
Murayama, K.7
Hayashi, Y.K.8
Nishino, I.9
Sangruchi, T.10
-
158
-
-
0038460809
-
Novel missense mutation and large deletion of GNE gene in autosomalrecessive inclusion-body myopathy
-
Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD, Castagni M, Bresolin N, Comi GP (2003) Novel missense mutation and large deletion of GNE gene in autosomalrecessive inclusion-body myopathy. Muscle Nerve 28:113-117
-
(2003)
Muscle Nerve
, vol.28
, pp. 113-117
-
-
Del Bo, R.1
Baron, P.2
Prelle, A.3
Serafini, M.4
Moggio, M.5
Fonzo, A.D.6
Castagni, M.7
Bresolin, N.8
Comi, G.P.9
-
159
-
-
0037058770
-
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene
-
Broccolini A, Pescatori M, D'Amico A, Sabino A, Silvestri G, Ricci E, Servidei S, Tonali PA, MirabellaM(2002) An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. Neurology 59:1808-1809
-
(2002)
Neurology
, vol.59
, pp. 1808-1809
-
-
Broccolini, A.1
Pescatori, M.2
D'Amico, A.3
Sabino, A.4
Silvestri, G.5
Ricci, E.6
Servidei, S.7
Tonali, P.A.8
Mirabella, M.9
-
160
-
-
77955912122
-
The spectrum of GNE mutations: Allelic heterogeneity for a common phenotype
-
Grandis M, Gulli R, Cassandrini D, Gazzerro E, Benedetti L, Narciso E, Nobbio L, Bruno C, Minetti C, Bellone E, Reni L, Mancardi GL, Mandich P, Schenone A (2010) The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. Neurol Sci 31:377-380
-
(2010)
Neurol Sci
, vol.31
, pp. 377-380
-
-
Grandis, M.1
Gulli, R.2
Cassandrini, D.3
Gazzerro, E.4
Benedetti, L.5
Narciso, E.6
Nobbio, L.7
Bruno, C.8
Minetti, C.9
Bellone, E.10
Reni, L.11
Mancardi, G.L.12
Mandich, P.13
Schenone, A.14
-
161
-
-
0037058801
-
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM
-
Vasconcelos OM, Raju R, Dalakas MC (2002) GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. Neurology 59:1776-1779
-
(2002)
Neurology
, vol.59
, pp. 1776-1779
-
-
Vasconcelos, O.M.1
Raju, R.2
Dalakas, M.C.3
-
162
-
-
0036431973
-
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)
-
Darvish D, Vahedifar P, Huo Y (2002) Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab 77:252-256
-
(2002)
Mol Genet Metab
, vol.77
, pp. 252-256
-
-
Darvish, D.1
Vahedifar, P.2
Huo, Y.3
-
163
-
-
33847055490
-
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family
-
Chu CC, Kuo HC, Yeh TH, Ro LS, Chen SR, Huang CC (2007) Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. Clin Neurol Neurosurg 109:250-256
-
(2007)
Clin Neurol Neurosurg
, vol.109
, pp. 250-256
-
-
Chu, C.C.1
Kuo, H.C.2
Yeh, T.H.3
Ro, L.S.4
Chen, S.R.5
Huang, C.C.6
-
164
-
-
17644388058
-
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy
-
Ro LS, Lee-Chen GJ, Wu YR, Lee M, Hsu PY, Chen CM (2005) Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy. J Neurol Neurosurg Psychiatry 76:752-755
-
(2005)
J Neurol Neurosurg Psychiatry
, vol.76
, pp. 752-755
-
-
Ro, L.S.1
Lee-Chen, G.J.2
Wu, Y.R.3
Lee, M.4
Hsu, P.Y.5
Chen, C.M.6
-
165
-
-
77952010903
-
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family
-
Stober A, Aleo A, Kuhl V, Bornemann A, Walter MC, Lochmüller H, Lindner A, Krause S (2010) Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. Neuromuscul Disord 20:335-336
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 335-336
-
-
Stober, A.1
Aleo, A.2
Kuhl, V.3
Bornemann, A.4
Walter, M.C.5
Lochmüller, H.6
Lindner, A.7
Krause, S.8
-
166
-
-
45949100777
-
[Distal myopathy due to mutations of GNE gene: Clinical spectrum and diagnosis]
-
Behin A, Dubourg O, Laforet P, Pecheux C, Bernard R, Levy N, Eymard B (2008) [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. Rev Neurol (Paris) 164:434-443
-
(2008)
Rev Neurol (Paris)
, vol.164
, pp. 434-443
-
-
Behin, A.1
Dubourg, O.2
Laforet, P.3
Pecheux, C.4
Bernard, R.5
Levy, N.6
Eymard, B.7
-
167
-
-
33749441152
-
A case of hereditary inclusion body myopathy: 1 patient, 2 novel mutations
-
Fisher J, Towfighi J, Darvish D, Simmons Z (2006) A case of hereditary inclusion body myopathy: 1 patient, 2 novel mutations. J Clin Neuromuscul Dis 7:179-184
-
(2006)
J Clin Neuromuscul Dis
, vol.7
, pp. 179-184
-
-
Fisher, J.1
Towfighi, J.2
Darvish, D.3
Simmons, Z.4
-
168
-
-
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, Najmabadi H, Wiendl H, Müller-Hocker J, Müller-Felber W, Pongratz D, Lochmüller H (2003) 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 13:830-834
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 830-834
-
-
Krause, S.1
Schlotter-Weigel, B.2
Walter, M.C.3
Najmabadi, H.4
Wiendl, H.5
Müller-Hocker, J.6
Müller-Felber, W.7
Pongratz, D.8
Lochmüller, H.9
-
169
-
-
17044385422
-
Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy
-
Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F (2005) Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy. Neuromuscul Disord 15:361-363
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 361-363
-
-
Amouri, R.1
Driss, A.2
Murayama, K.3
Kefi, M.4
Nishino, I.5
Hentati, F.6
-
170
-
-
77950963311
-
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy
-
Voermans NC, Guillard M, Doedee R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ (2010) Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. Clin Neuropathol 29:71-77
-
(2010)
Clin Neuropathol
, vol.29
, pp. 71-77
-
-
Voermans, N.C.1
Guillard, M.2
Doedee, R.3
Lammens, M.4
Huizing, M.5
Padberg, G.W.6
Wevers, R.A.7
van Engelen, B.G.8
Lefeber, D.J.9
-
171
-
-
0036217154
-
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 (2002) Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine- 2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet 47:77-79
-
(2002)
J Hum Genet
, vol.47
, pp. 77-79
-
-
Kayashima, T.1
Matsuo, H.2
Satoh, A.3
Ohta, T.4
Yoshiura, K.5
Matsumoto, N.6
Nakane, Y.7
Niikawa, N.8
Kishino, T.9
-
172
-
-
34548119927
-
Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy
-
Motozaki Y, Komai K, Hirohata M, Asaka T, Ono K, Yamada M(2007) Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy. Eur J Neurol 14:e14-e15
-
(2007)
Eur J Neurol
, vol.14
, pp. e14-e15
-
-
Motozaki, Y.1
Komai, K.2
Hirohata, M.3
Asaka, T.4
Ono, K.5
Yamada, M.6
-
173
-
-
84861639380
-
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 (2012) 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. J Neurol Sci 318:100-105
-
(2012)
J Neurol Sci
, vol.318
, pp. 100-105
-
-
Mori-Yoshimura, M.1
Monma, K.2
Suzuki, N.3
Aoki, M.4
Kumamoto, T.5
Tanaka, K.6
Tomimitsu, H.7
Nakano, S.8
Sonoo, M.9
Shimizu, J.10
Sugie, K.11
Nakamura, H.12
Oya, Y.13
Hayashi, Y.K.14
Malicdan, M.C.15
Noguchi, S.16
Murata, M.17
Nishino, I.18
-
174
-
-
84555208259
-
Distal myopathy with rimmed vacuoles: Clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients
-
Lu X, Pu C, Huang X, Liu J, Mao Y (2011) Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients. Neurol Res 33:1025-1031
-
(2011)
Neurol Res
, vol.33
, pp. 1025-1031
-
-
Lu, X.1
Pu, C.2
Huang, X.3
Liu, J.4
Mao, Y.5
-
175
-
-
84866018938
-
Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations
-
Park YE, Kim HS, Choi ES, Shin JH, Kim SY, Son EH, Lee CH, Kim DS (2012) Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations. J Neurol Sci 321:77-81
-
(2012)
J Neurol Sci
, vol.321
, pp. 77-81
-
-
Park, Y.E.1
Kim, H.S.2
Choi, E.S.3
Shin, J.H.4
Kim, S.Y.5
Son, E.H.6
Lee, C.H.7
Kim, D.S.8
-
176
-
-
84876897352
-
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients
-
No D, Valles-Ayoub Y, Carbajo R, Khokher Z, Sandoval L, Stein B, Tarnopolsky MA, Mozaffar T, Darvish B, Pietruszka M, Darvish D (2013) Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients. Genet Test Mol Biomarkers 17:376-382
-
(2013)
Genet Test Mol Biomarkers
, vol.17
, pp. 376-382
-
-
No, D.1
Valles-Ayoub, Y.2
Carbajo, R.3
Khokher, Z.4
Sandoval, L.5
Stein, B.6
Tarnopolsky, M.A.7
Mozaffar, T.8
Darvish, B.9
Pietruszka, M.10
Darvish, D.11
-
177
-
-
84872171151
-
Distal myopathy with rimmed vacuoles and inflammation: A genetically proven case
-
Kannan MA, Challa S, Urtizberea AJ, Krahn M, Jabeen AS, Borgohain R (2012) Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case. Neurol India 60:631-634
-
(2012)
Neurol India
, vol.60
, pp. 631-634
-
-
Kannan, M.A.1
Challa, S.2
Urtizberea, A.J.3
Krahn, M.4
Jabeen, A.S.5
Borgohain, R.6
-
178
-
-
84864285013
-
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 (2012) Muscle imaging findings in GNE myopathy. J Neurol 259:1358-1365
-
(2012)
J Neurol
, vol.259
, pp. 1358-1365
-
-
Tasca, G.1
Ricci, E.2
Monforte, M.3
Laschena, F.4
Ottaviani, P.5
Rodolico, C.6
Barca, E.7
Silvestri, G.8
Iannaccone, E.9
Mirabella, M.10
Broccolini, A.11
-
179
-
-
79959570089
-
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
-
Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB (2011) Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. BMC Med Genet 12:87
-
(2011)
BMC Med Genet
, vol.12
, pp. 87
-
-
Boyden, S.E.1
Duncan, A.R.2
Estrella, E.A.3
Lidov, H.G.4
Mahoney, L.J.5
Katz, J.S.6
Kunkel, L.M.7
Kang, P.B.8
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