-
1
-
-
70449719317
-
Musculoskeletal manifestations of lysosomal storage disorders
-
19822711 10.1136/ard.2008.095315 1:CAS:528:DC%2BD1MXhs1WitbfM
-
Aldenhoven M, Sakkers RJB, Boelens J, de Koning TJ, Wulffraat NM (2009) Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis 68:1659-1665
-
(2009)
Ann Rheum Dis
, vol.68
, pp. 1659-1665
-
-
Aldenhoven, M.1
Sakkers, R.J.B.2
Boelens, J.3
De Koning, T.J.4
Wulffraat, N.M.5
-
2
-
-
0035092770
-
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant
-
11181566 10.1093/glycob/11.1.99 1:CAS:528:DC%2BD3MXhsVKgur4%3D
-
Bhattacharyya R, Gliddon B, Beccari T, Hopwood JJ, Stanley P (2001) A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant. Glycobiology 11:99-103
-
(2001)
Glycobiology
, vol.11
, pp. 99-103
-
-
Bhattacharyya, R.1
Gliddon, B.2
Beccari, T.3
Hopwood, J.J.4
Stanley, P.5
-
3
-
-
17144465111
-
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome)
-
10561464 10.1093/glycob/9.12.1389 1:CAS:528:DyaK1MXnvFyhtLg%3D
-
Bhaumik M, Muller VJ, Rozaklis T et al (1999) A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 9:1389-1396
-
(1999)
Glycobiology
, vol.9
, pp. 1389-1396
-
-
Bhaumik, M.1
Muller, V.J.2
Rozaklis, T.3
-
4
-
-
0024524979
-
Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency
-
10.1172/JCI114010
-
Birkenmier EH, Davisson MT, Beamer WG et al (1989) Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. J Clin Invest 83:1258-1266
-
(1989)
J Clin Invest
, vol.83
, pp. 1258-1266
-
-
Birkenmier, E.H.1
Davisson, M.T.2
Beamer, W.G.3
-
5
-
-
0030899669
-
Murine mucopolysaccharidosis type I: Targeted disruption of the murine α-L-iduronidase gene
-
9097952 10.1093/hmg/6.4.503 1:CAS:528:DyaK2sXisFOmt7s%3D
-
Clarke LA, Russell CS, Pownall S et al (1997) Murine mucopolysaccharidosis type I: targeted disruption of the murine α-L-iduronidase gene. Hum Mol Genet 6:503-511
-
(1997)
Hum Mol Genet
, vol.6
, pp. 503-511
-
-
Clarke, L.A.1
Russell, C.S.2
Pownall, S.3
-
6
-
-
0029923977
-
Gp130-mediated signal transduction in embryonic stem cells involves activation of Jak and Ras/mitogen-activated protein kinase pathways
-
8939963 10.1074/jbc.271.47.30136 1:CAS:528:DyaK28XntFOgurw%3D
-
Ernst M, Oates A, Dunn AR (1996) Gp130-mediated signal transduction in embryonic stem cells involves activation of Jak and Ras/mitogen-activated protein kinase pathways. J Biol Chem 271:30136-30143
-
(1996)
J Biol Chem
, vol.271
, pp. 30136-30143
-
-
Ernst, M.1
Oates, A.2
Dunn, A.R.3
-
7
-
-
35548941400
-
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
-
17725987 10.1093/hmg/ddm223 1:CAS:528:DC%2BD2sXht1aksbjE
-
Fraldi A, Hemsley K, Crawley A et al (2007) Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum Mol Genet 16:2693-2702
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2693-2702
-
-
Fraldi, A.1
Hemsley, K.2
Crawley, A.3
-
8
-
-
0029033963
-
Articular cartilage proteoglycans in osteoarthritic STR/Ort mice
-
7584322 10.1016/S1063-4584(05)80042-1 1:STN:280:DyaK28%2FhtVCmsQ%3D%3D
-
Gaffen JD, Gleave SJ, Crossman MV, Bayliss MT, Mason RM (1995) Articular cartilage proteoglycans in osteoarthritic STR/Ort mice. Osteoarthritis Cartilage 3:95-104
-
(1995)
Osteoarthritis Cartilage
, vol.3
, pp. 95-104
-
-
Gaffen, J.D.1
Gleave, S.J.2
Crossman, M.V.3
Bayliss, M.T.4
Mason, R.M.5
-
9
-
-
37249043762
-
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)
-
17876721 10.1007/s10545-007-0641-8 1:CAS:528:DC%2BD2sXhtl2ks7nM
-
Garcia AR, Pan J, Lamsa JC, Muenzer J (2007) The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome). J Inherit Metab Dis 30:924-934
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 924-934
-
-
Garcia, A.R.1
Pan, J.2
Lamsa, J.C.3
Muenzer, J.4
-
10
-
-
0041805455
-
Leukaemia inhibitory factor (lif) is expressed in hypertrophic chondrocytes and vascular sprouts during osteogenesis
-
12550107 10.1006/cyto.2002.2002 1:CAS:528:DC%2BD3sXmt1Srtg%3D%3D
-
Grimaud E, Blanchard F, Charrier C, Gouin F, Redini F, Heymann D (2002) Leukaemia inhibitory factor (lif) is expressed in hypertrophic chondrocytes and vascular sprouts during osteogenesis. Cytokine 20:224-230
-
(2002)
Cytokine
, vol.20
, pp. 224-230
-
-
Grimaud, E.1
Blanchard, F.2
Charrier, C.3
Gouin, F.4
Redini, F.5
Heymann, D.6
-
11
-
-
46149113010
-
Infused Fc-tagged β-glucuronidase crosses the placenta and produces clearance of storage in utero in mucopolysaccharidosis VII mice
-
18544647 10.1073/pnas.0803715105 1:CAS:528:DC%2BD1cXnvVKrsrw%3D
-
Grubb JH, Vogler C, Tan Y, Shah GN, MacRae AF, Sly WS (2008) Infused Fc-tagged β-glucuronidase crosses the placenta and produces clearance of storage in utero in mucopolysaccharidosis VII mice. Proc Natl Acad Sci U S A 105:8375-8380
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 8375-8380
-
-
Grubb, J.H.1
Vogler, C.2
Tan, Y.3
Shah, G.N.4
Macrae, A.F.5
Sly, W.S.6
-
12
-
-
33947588765
-
Animal models for mucopolysaccharidosis disorders and their clinical relevance
-
10.1111/j.1651-2227.2007.00211.x
-
Haskins ME (2007) Animal models for mucopolysaccharidosis disorders and their clinical relevance. Acta Paediatr 96:56-62
-
(2007)
Acta Paediatr
, vol.96
, pp. 56-62
-
-
Haskins, M.E.1
-
13
-
-
0032168152
-
Interleukin-6-type cytokine signalling through the gp130/Jak/STAT pathway
-
9716487 1:CAS:528:DyaK1cXmtFOls7c%3D
-
Heinrich PC, Behrmann I, Müller-Newen G, Schaper F, Graeve L (1998) Interleukin-6-type cytokine signalling through the gp130/Jak/STAT pathway. Biochem J 334:297-314
-
(1998)
Biochem J
, vol.334
, pp. 297-314
-
-
Heinrich, P.C.1
Behrmann, I.2
Müller-Newen, G.3
Schaper, F.4
Graeve, L.5
-
14
-
-
52649162435
-
Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis i mice
-
18613275 10.1002/jgm.1229 1:CAS:528:DC%2BD1cXht1aqsbzO
-
Herati RS, Ma X, Tittiger M, Ohlemiller KK, Kovacs A, Ponder KP (2008) Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice. J Gene Med 10:972-982
-
(2008)
J Gene Med
, vol.10
, pp. 972-982
-
-
Herati, R.S.1
Ma, X.2
Tittiger, M.3
Ohlemiller, K.K.4
Kovacs, A.5
Ponder, K.P.6
-
15
-
-
77955022207
-
Characterization of a novel mucopolysaccharidosis type II model mouse and recombinant AAV2/8 vector-mediated gene therapy
-
20652491 10.1007/s10059-010-0083-2 1:CAS:528:DC%2BC3cXptFGmtbw%3D
-
Jung SC, Park ES, Choi EN, Kim CH, Kim SJ, Jin DK (2010) Characterization of a novel mucopolysaccharidosis type II model mouse and recombinant AAV2/8 vector-mediated gene therapy. Mol Cells 30:13-18
-
(2010)
Mol Cells
, vol.30
, pp. 13-18
-
-
Jung, S.C.1
Park, E.S.2
Choi, E.N.3
Kim, C.H.4
Kim, S.J.5
Jin, D.K.6
-
16
-
-
26244431932
-
Maintenance of chondroitin sulfation balance by chondroitin-4- sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis
-
16079159 10.1242/dev.01948
-
Klüppel M, Wight TN, Chan C, Hinek A, Wrana JL (2005) Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis. Development 132:3989-4003
-
(2005)
Development
, vol.132
, pp. 3989-4003
-
-
Klüppel, M.1
Wight, T.N.2
Chan, C.3
Hinek, A.4
Wrana, J.L.5
-
17
-
-
0030696081
-
Leukemia inhibitory factor, a potent cardiac hypertrophic cytokine, activates the JAK/STAT pathway in rat cardiomyocytes
-
9351438 10.1161/01.RES.81.5.656 1:CAS:528:DyaK2sXntVyht7s%3D
-
Kodama H, Fukuda K, Pan J et al (1997) Leukemia inhibitory factor, a potent cardiac hypertrophic cytokine, activates the JAK/STAT pathway in rat cardiomyocytes. Circ Res 81:656-663
-
(1997)
Circ Res
, vol.81
, pp. 656-663
-
-
Kodama, H.1
Fukuda, K.2
Pan, J.3
-
18
-
-
52449097694
-
Quantitative micro-computed tomotraphy: A non-invasive method to assess equivalent bone mineral density
-
18539557 10.1016/j.bone.2008.04.009
-
Nazarian A, Snyder BD, Zurakowski D, Muller R (2008) Quantitative micro-computed tomotraphy: a non-invasive method to assess equivalent bone mineral density. Bone 43:302-311
-
(2008)
Bone
, vol.43
, pp. 302-311
-
-
Nazarian, A.1
Snyder, B.D.2
Zurakowski, D.3
Muller, R.4
-
19
-
-
0000869162
-
The mucopolysaccharidosis
-
C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Childs K.W. Kinzler B. Vogelstein (eds) 8 McGraw-Hill New York
-
Neufeld EF, Muenzer J (2001) The mucopolysaccharidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3421-3452
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
20
-
-
32544436998
-
Loss of leukemia inhibitory factor receptor beta or cardiotrophin-1 causes similar deficits in preganglionic sympathetic neurons and adrenal medulla
-
16467531 10.1523/JNEUROSCI.4127-05.2006 1:CAS:528:DC%2BD28XhslCht7w%3D
-
Oberle S, Schober A, Meyer V et al (2006) Loss of leukemia inhibitory factor receptor beta or cardiotrophin-1 causes similar deficits in preganglionic sympathetic neurons and adrenal medulla. J Neurosci 26:1823-1832
-
(2006)
J Neurosci
, vol.26
, pp. 1823-1832
-
-
Oberle, S.1
Schober, A.2
Meyer, V.3
-
21
-
-
0033527566
-
Catalytically active TYK2 is essential for interferon-beta-mediated phosphorylation of STAT3 and interferonalpha receptor-1 (IFNAR-1) but not for activation of phosphoinositol 3-kinase
-
10542297 10.1074/jbc.274.45.32507 1:CAS:528:DyaK1MXnt12is78%3D
-
Rani MR, Leaman DW, Han Y et al (1999) Catalytically active TYK2 is essential for interferon-beta-mediated phosphorylation of STAT3 and interferonalpha receptor-1 (IFNAR-1) but not for activation of phosphoinositol 3-kinase. J Biol Chem 274:32507-32511
-
(1999)
J Biol Chem
, vol.274
, pp. 32507-32511
-
-
Rani, M.R.1
Leaman, D.W.2
Han, Y.3
-
22
-
-
20844447535
-
Interleukin-11 receptor signaling is required for normal bone remodeling
-
15940362 10.1359/JBMR.050209 1:CAS:528:DC%2BD2MXmsFyit70%3D
-
Sims NA, Jenkins BJ, Nakamura A et al (2005) Interleukin-11 receptor signaling is required for normal bone remodeling. J Bone Miner Res 20:1093-1102
-
(2005)
J Bone Miner Res
, vol.20
, pp. 1093-1102
-
-
Sims, N.A.1
Jenkins, B.J.2
Nakamura, A.3
-
23
-
-
0035956963
-
Active site mutant transgene confers tolerance to human β-glucuronidase without affecting the phenotype of MPS VII mice
-
11226217 10.1073/pnas.051623698 1:CAS:528:DC%2BD3MXhslKnt7c%3D
-
Sly WS, Vogler C, Grubb JH et al (2001) Active site mutant transgene confers tolerance to human β-glucuronidase without affecting the phenotype of MPS VII mice. Proc Natl Acad Sci U S A 98:2205-2210
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 2205-2210
-
-
Sly, W.S.1
Vogler, C.2
Grubb, J.H.3
-
24
-
-
0026768292
-
Blastocyst implantation depends on maternal expression of leukaemia inhibitory factor
-
1522892 10.1038/359076a0 1:CAS:528:DyaK38XlvVGmtLc%3D
-
Stewart CL, Kaspar P, Brunet LJ, Bhatt H, Gadi I, Köntgen F, Abbondanzo SJ (1992) Blastocyst implantation depends on maternal expression of leukaemia inhibitory factor. Nature 359:76-79
-
(1992)
Nature
, vol.359
, pp. 76-79
-
-
Stewart, C.L.1
Kaspar, P.2
Brunet, L.J.3
Bhatt, H.4
Gadi, I.5
Köntgen, F.6
Abbondanzo, S.J.7
-
25
-
-
0346752134
-
-/-) produced by targeted disruption of the gene defective in Morquio A disease
-
14583446 10.1093/hmg/ddg366 1:CAS:528:DC%2BD3sXpsl2mtbs%3D
-
-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet 12:3349-3358
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3349-3358
-
-
Tomatsu, S.1
Orii, K.O.2
Vogler, C.3
-
26
-
-
27944489624
-
Development of MPS IVA mouse
-
1:CAS:528:DC%2BD2MXhtFymtb3O
-
Tomatsu S, Gutierrez M, Nishioka T et al (2005a) Development of MPS IVA mouse. Genet 14:3321-3335
-
(2005)
Genet
, vol.14
, pp. 3321-3335
-
-
Tomatsu, S.1
Gutierrez, M.2
Nishioka, T.3
-
27
-
-
21144434782
-
Keratan sulphate levels in mucopolysaccharidosis and mucolipidoses
-
15877208 10.1007/s10545-005-5673-3 1:CAS:528:DC%2BD2MXjvFKqsLw%3D
-
Tomatsu S, Okamura K, Maeda H et al (2005b) Keratan sulphate levels in mucopolysaccharidosis and mucolipidoses. J Inherit Metab Dis 28:187-202
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 187-202
-
-
Tomatsu, S.1
Okamura, K.2
Maeda, H.3
-
28
-
-
34249286236
-
tm(C76S)slu) of MPS IVA with missense mutation at the active site cystine conserved among sulfatase proteins
-
17498992 10.1016/j.ymgme.2007.02.009 1:CAS:528:DC%2BD2sXmtVejsLg%3D
-
tm(C76S)slu) of MPS IVA with missense mutation at the active site cystine conserved among sulfatase proteins. Mol Genet Metab 91:251-258
-
(2007)
Mol Genet Metab
, vol.91
, pp. 251-258
-
-
Tomatsu, S.1
Vogler, C.2
Montano, A.M.3
-
29
-
-
77953140333
-
Enhancement of drug delivery: Enzyme-replacement therapy for murine Morquio A syndrome
-
20332769 10.1038/mt.2010.32 1:CAS:528:DC%2BC3cXjslWhtrg%3D
-
Tomatsu S, Montano AM, Dung VC et al (2010) Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther 18:1094-1102
-
(2010)
Mol Ther
, vol.18
, pp. 1094-1102
-
-
Tomatsu, S.1
Montano, A.M.2
Dung, V.C.3
|