-
1
-
-
0037545481
-
Hereditary inclusion body myopathy: The Middle Eastern genetic cluster
-
Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, Mitrani-Rosenbaum S (2003) Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology 60:1519-1523.
-
(2003)
Neurology
, vol.60
, pp. 1519-1523
-
-
Argov, Z.1
Eisenberg, I.2
Grabov-Nardini, G.3
Sadeh, M.4
Wirguin, I.5
Soffer, D.6
Mitrani-Rosenbaum, S.7
-
2
-
-
0036797633
-
Inclusion-body myositis and myopathies: Different etiologies, possibly similar pathogenic mechanisms
-
Askanas V, Engel WK (2002) Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. Curr Opin Neurol 15:525-531.
-
(2002)
Curr Opin Neurol
, vol.15
, pp. 525-531
-
-
Askanas, V.1
Engel, W.K.2
-
3
-
-
33644869497
-
Inclusion-body myositis: A myodegenerative conformational disorder associated with Abeta, protein misfolding, and proteasome inhibition
-
Askanas V, Engel WK (2006) Inclusion-body myositis: a myodegenerative conformational disorder associated with Abeta, protein misfolding, and proteasome inhibition. Neurology 66: S39-S48.
-
(2006)
Neurology
, vol.66
-
-
Askanas, V.1
Engel, W.K.2
-
4
-
-
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
-
5
-
-
25444484917
-
Real-time PCR assays targeting a unique chromosomal sequence of Yersinia pestis
-
Chase CJ, Ulrich MP, Wasieloski LP Jr., Kondig JP, Garrison J, Lindler LE, Kulesh DA (2005) Real-time PCR assays targeting a unique chromosomal sequence of Yersinia pestis. Clin Chem 51:1778-1785.
-
(2005)
Clin Chem
, vol.51
, pp. 1778-1785
-
-
Chase, C.J.1
Ulrich, M.P.2
Wasieloski Jr., L.P.3
Kondig, J.P.4
Garrison, J.5
Lindler, L.E.6
Kulesh, D.A.7
-
6
-
-
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
-
8
-
-
18744392293
-
Mutations spectrum of Gne 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 Gne 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
-
9
-
-
33644850570
-
Inclusion-body myositis: Clinical, diagnostic, and pathologic aspects
-
Engel WK, Askanas V (2006) Inclusion-body myositis: clinical, diagnostic, and pathologic aspects. Neurology 66:S20-S29.
-
(2006)
Neurology
, vol.66
-
-
Engel, W.K.1
Askanas, V.2
-
10
-
-
33749823880
-
Optimization of lighttyper genotyping assays
-
Gameau LJ, Brown LD, Moore MA, Donnenhoffer JE, Demyan WB (2005) Optimization of lighttyper genotyping assays. Biochemica 3:4-6.
-
(2005)
Biochemica
, vol.3
, pp. 4-6
-
-
Gameau, L.J.1
Brown, L.D.2
Moore, M.A.3
Donnenhoffer, J.E.4
Demyan, W.B.5
-
11
-
-
33644548649
-
Amplicon DNA melting analysis for mutation scanning and genotyping: Cross-platform comparison of instruments and dyes
-
Herrmann MG, Durtschi JD, Bromley LK, Wittwer CT, Voelkerding KV (2006) Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes. Clin Chem 52:494-503.
-
(2006)
Clin Chem
, vol.52
, pp. 494-503
-
-
Herrmann, M.G.1
Durtschi, J.D.2
Bromley, L.K.3
Wittwer, C.T.4
Voelkerding, K.V.5
-
12
-
-
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
-
13
-
-
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
-
ReutterW
-
Hinderlich S, Stasche R, Zeitler R, ReutterW(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
Stasche, R.2
Zeitler, R.3
-
14
-
-
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
-
15
-
-
0031305601
-
Distal myopathy with rimmed vacuoles (DMRV)
-
Ikeuchi T, Tsuji S (1997) Distal myopathy with rimmed vacuoles (DMRV). Nippon Rinsho 55:3195-3199.
-
(1997)
Nippon Rinsho
, vol.55
, pp. 3195-3199
-
-
Ikeuchi, T.1
Tsuji, S.2
-
16
-
-
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
-
17
-
-
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
-
18
-
-
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
-
19
-
-
0030977752
-
Overlapping PCR for bidirectional PCR amplification of specific alleles: A rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes
-
Liu Q, Thorland EC, Heit JA, Sommer SS (1997) Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res 7:389-398.
-
(1997)
Genome Res
, vol.7
, pp. 389-398
-
-
Liu, Q.1
Thorland, E.C.2
Heit, J.A.3
Sommer, S.S.4
-
20
-
-
0035559697
-
Mutation detection using fluorescent hybridization probes and melting curve analysis
-
Lyon E (2001) Mutation detection using fluorescent hybridization probes and melting curve analysis. Expert Rev Mol Diagn 1:92-101.
-
(2001)
Expert Rev Mol Diagn
, vol.1
, pp. 92-101
-
-
Lyon, E.1
-
21
-
-
33846592330
-
A Gne knockout mouse expressing human V572l mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
-
Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I (2007) A Gne knockout mouse expressing human V572l mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 16:115-128.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 115-128
-
-
Malicdan, M.C.1
Noguchi, S.2
Nonaka, I.3
Hayashi, Y.K.4
Nishino, I.5
-
22
-
-
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
-
23
-
-
16344367073
-
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy
-
Nonaka I, Noguchi S, Nishino I (2005) Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. Curr Neurol Neurosci Rep 5:61-65.
-
(2005)
Curr Neurol Neurosci Rep
, vol.5
, pp. 61-65
-
-
Nonaka, I.1
Noguchi, S.2
Nishino, I.3
-
24
-
-
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
-
25
-
-
84880534233
-
-
Tm, Mckusick-Nathans Institute of Genetic Medicine
-
OMIM. Online Mendelian Inheritance in Man, Omim (Tm). Mckusick-Nathans Institute of Genetic Medicine. http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.
-
Online Mendelian Inheritance in Man, Omim
-
-
-
26
-
-
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
-
27
-
-
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
-
28
-
-
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
-
29
-
-
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-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
-
Stasche 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-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. J Biol Chem 272:24319-24324.
-
(1997)
J Biol Chem
, vol.272
, pp. 24319-24324
-
-
Stasche, R.1
Hinderlich, S.2
Weise, C.3
Effertz, K.4
Lucka, L.5
Moormann, P.6
Reutter, W.7
-
30
-
-
4644344038
-
Molecular genetic diagnosis of familial tumors
-
Tomita N, Oto M (2004) Molecular genetic diagnosis of familial tumors. Int J Clin Oncol 9:246-256.
-
(2004)
Int J Clin Oncol
, vol.9
, pp. 246-256
-
-
Tomita, N.1
Oto, M.2
-
32
-
-
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
|