-
1
-
-
0035092770
-
A novel missense mutation in the lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant
-
Bhattacharyya R, Gliddon B, Beccari T et al (2001) A novel missense mutation in the 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
-
2
-
-
17144465111
-
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome)
-
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
-
3
-
-
11144354757
-
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells
-
Biffi A, De Palma M, Quattrini A et al (2004) Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. J Clin Invest 113:1118–1129
-
(2004)
J Clin Invest
, vol.113
, pp. 1118-1129
-
-
Biffi, A.1
de Palma, M.2
Quattrini, A.3
-
4
-
-
0025719951
-
Increased life span and correction of metabolic defects in murine mucopoly-saccharidosis type VII after syngeneic bone marrow transplantation
-
Birkenmeier EH, Barker JE, Vogler CA et al (1991) Increased life span and correction of metabolic defects in murine mucopoly-saccharidosis type VII after syngeneic bone marrow transplantation. Blood 78:3081–3092
-
(1991)
Blood
, vol.78
, pp. 3081-3092
-
-
Birkenmeier, E.H.1
Barker, J.E.2
Vogler, C.A.3
-
5
-
-
67349125990
-
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts
-
Cardone M, Porto C, Tarallo A et al (2008) Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. Pathogenetics 1:6
-
(2008)
Pathogenetics
, vol.1
, pp. 6
-
-
Cardone, M.1
Porto, C.2
Tarallo, A.3
-
6
-
-
0035898287
-
Translating developmental time across mammalian species
-
Clancy B, Darlington RB, Finlay BL (2001) Translating developmental time across mammalian species. Neuroscience 105:7–17
-
(2001)
Neuroscience
, vol.105
, pp. 7-17
-
-
Clancy, B.1
Darlington, R.B.2
Finlay, B.L.3
-
7
-
-
2342524107
-
Bone marrow transdifferentiation in brain after transplantation: A retrospective study
-
Cogle CR, Yachnis AT, Laywell ED et al (2004) Bone marrow transdifferentiation in brain after transplantation: a retrospective study. Lancet 363:1432–1437
-
(2004)
Lancet
, vol.363
, pp. 1432-1437
-
-
Cogle, C.R.1
Yachnis, A.T.2
Laywell, E.D.3
-
8
-
-
33746586897
-
Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA
-
Crawley AC, Gliddon BL, Auclair D et al (2006) Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA. Brain Res 1104:1–17
-
(2006)
Brain Res
, vol.1104
, pp. 1-17
-
-
Crawley, A.C.1
Gliddon, B.L.2
Auclair, D.3
-
9
-
-
36849057499
-
Murine models of acute neuronopathic Gaucher disease
-
Enquist IB, Bianco CL, Ooka A et al (2007) Murine models of acute neuronopathic Gaucher disease. Proc Natl Acad Sci U S A 104:17483–17488
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 17483-17488
-
-
Enquist, I.B.1
Bianco, C.L.2
Ooka, A.3
-
10
-
-
35548941400
-
Functional correction of CNS lesions in a MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
-
Fraldi A, Hemsley K, Crawley A et al (2007) Functional correction of CNS lesions in a 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
-
11
-
-
0025776076
-
Heparin strongly decreases the rate of inhibition of neutrophil elastase by alpha 1-proteinase inhibitor
-
Frommherz KJ, Faller B, Bieth JG (1991) Heparin strongly decreases the rate of inhibition of neutrophil elastase by alpha 1-proteinase inhibitor. J Biol Chem 266:15356–15362
-
(1991)
J Biol Chem
, vol.266
, pp. 15356-15362
-
-
Frommherz, K.J.1
Faller, B.2
Bieth, J.G.3
-
12
-
-
77952010195
-
Therapeutic Efficacy of Bone Marrow Transplant, Intracranial AAV-mediated Gene Therapy, or Both in the Mouse Model of MPS IIIB
-
Heldermon CD, Ohlemiller KK, Herzog ED et al (2010) Therapeutic Efficacy of Bone Marrow Transplant, Intracranial AAV-mediated Gene Therapy, or Both in the Mouse Model of MPS IIIB. Mol Ther 18:873–880
-
(2010)
Mol Ther
, vol.18
, pp. 873-880
-
-
Heldermon, C.D.1
Ohlemiller, K.K.2
Herzog, E.D.3
-
13
-
-
61849184972
-
Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease
-
Hemsley KM, Luck AJ, Crawley AC et al (2009) Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease. Eur J Neurosci 29:1197–1214
-
(2009)
Eur J Neurosci
, vol.29
, pp. 1197-1214
-
-
Hemsley, K.M.1
Luck, A.J.2
Crawley, A.C.3
-
14
-
-
0023928896
-
Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse
-
Hoogerbrugge PM, Poorthuis BJ, Romme AE et al (1988) Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. J Clin Invest 81:1790–1794
-
(1988)
J Clin Invest
, vol.81
, pp. 1790-1794
-
-
Hoogerbrugge, P.M.1
Poorthuis, B.J.2
Romme, A.E.3
-
15
-
-
0020030423
-
Diagnosis of Sanfilippo A syndrome by estimation of sulphamidase activity using a radiolabelled tetra-saccharide substrate
-
Hopwood JJ, Elliott H (1982) Diagnosis of Sanfilippo A syndrome by estimation of sulphamidase activity using a radiolabelled tetra-saccharide substrate. Clin Chim Acta 123:241–250
-
(1982)
Clin Chim Acta
, vol.123
, pp. 241-250
-
-
Hopwood, J.J.1
Elliott, H.2
-
16
-
-
54349108587
-
Real-time PCR to determine transgene copy number and to quantitate the bioloc-alization of adoptively transferred cells from EGFP-transgenic mice
-
Joshi M, Keith Pittman H, Haisch C et al (2008) Real-time PCR to determine transgene copy number and to quantitate the bioloc-alization of adoptively transferred cells from EGFP-transgenic mice. Biotechniques 45:247–258
-
(2008)
Biotechniques
, vol.45
, pp. 247-258
-
-
Joshi, M.1
Keith Pittman, H.2
Haisch, C.3
-
17
-
-
0029013710
-
Poor cognitive outcome of eleven children with Sanfilippo syndrome after bone marrow transplantation and successful engraftment
-
Klein K, Krivit W, Whitley C et al (1995) Poor cognitive outcome of eleven children with Sanfilippo syndrome after bone marrow transplantation and successful engraftment. Bone Marrow Transplantation 15:S176–S181
-
(1995)
Bone Marrow Transplantation
, vol.15
, pp. S176-S181
-
-
Klein, K.1
Krivit, W.2
Whitley, C.3
-
18
-
-
0026637316
-
Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors
-
Kornfeld S (1992) Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors. Annu Rev Biochem 61:307–330
-
(1992)
Annu Rev Biochem
, vol.61
, pp. 307-330
-
-
Kornfeld, S.1
-
19
-
-
84864564603
-
Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA Mice
-
Langford-Smith A, Wilkinson FL, Langford-Smith KJ et al (2012) hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA Mice. Mol Ther doi:10.1038/mt.2012.82
-
(2012)
Mol Ther
-
-
Langford-Smith, A.1
Wilkinson, F.L.2
Langford-Smith, K.J.3
-
20
-
-
43449102461
-
Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice
-
Lau AA, Crawley AC, Hopwood JJ et al (2008) Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice. Behav Brain Res 91:130–136
-
(2008)
Behav Brain Res
, vol.91
, pp. 130-136
-
-
Lau, A.A.1
Crawley, A.C.2
Hopwood, J.J.3
-
21
-
-
77956428075
-
Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice
-
Lau AA, Hannouche H, Rozaklis T et al (2010) Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice. Exp Neurol 225:445–454
-
(2010)
Exp Neurol
, vol.225
, pp. 445-454
-
-
Lau, A.A.1
Hannouche, H.2
Rozaklis, T.3
-
22
-
-
0025220976
-
Heterogeneity in the distribution and morphology of microglia in the normal adult mouse brain
-
Lawson LJ, Perry VH, Dri P et al (1990) Heterogeneity in the distribution and morphology of microglia in the normal adult mouse brain. Neuroscience 39:151–170
-
(1990)
Neuroscience
, vol.39
, pp. 151-170
-
-
Lawson, L.J.1
Perry, V.H.2
Dri, P.3
-
23
-
-
0026552605
-
Turnover of resident microglia in the normal adult mouse brain
-
Lawson LJ, Perry VH, Gordon S (1992) Turnover of resident microglia in the normal adult mouse brain. Neuroscience 48:405–415
-
(1992)
Neuroscience
, vol.48
, pp. 405-415
-
-
Lawson, L.J.1
Perry, V.H.2
Gordon, S.3
-
24
-
-
0035469853
-
Vascular cell adhesion molecule-1 (CD106) is cleaved by neutrophil proteases in the bone marrow following hematopoietic progenitor cell mobilization by granulocyte colony-stimulating factor
-
Levesque JP, Takamatsu Y, Nilsson SK et al (2001) Vascular cell adhesion molecule-1 (CD106) is cleaved by neutrophil proteases in the bone marrow following hematopoietic progenitor cell mobilization by granulocyte colony-stimulating factor. Blood 98:1289–1297
-
(2001)
Blood
, vol.98
, pp. 1289-1297
-
-
Levesque, J.P.1
Takamatsu, Y.2
Nilsson, S.K.3
-
25
-
-
33845983322
-
Central nervous system-directed AAV2/5-mediated gene therapy synergizes with bone marrow transplantation in the murine model of globoid-cell leukodystrophy
-
Lin D, Donsante A, Macauley S et al (2007) Central nervous system-directed AAV2/5-mediated gene therapy synergizes with bone marrow transplantation in the murine model of globoid-cell leukodystrophy. Mol Ther 15:44–52
-
(2007)
Mol Ther
, vol.15
, pp. 44-52
-
-
Lin, D.1
Donsante, A.2
Macauley, S.3
-
26
-
-
0015212966
-
Corrective factors for inborn errors of mucopolysaccharide metabolism
-
Neufeld EF, Cantz MJ (1971) Corrective factors for inborn errors of mucopolysaccharide metabolism. Ann N Y Acad Sci 179:580–587
-
(1971)
Ann N Y Acad Sci
, vol.179
, pp. 580-587
-
-
Neufeld, E.F.1
Cantz, M.J.2
-
28
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
Pfaffl MW (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29:e45
-
(2001)
Nucleic Acids Res
, vol.29
-
-
Pfaffl, M.W.1
-
29
-
-
53449089638
-
Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: Influence of cellular composition of the graft on transplantation outcomes
-
Prasad V, Mendizabal A, Parikh S et al (2008) Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. Blood 112:2979–2989
-
(2008)
Blood
, vol.112
, pp. 2979-2989
-
-
Prasad, V.1
Mendizabal, A.2
Parikh, S.3
-
30
-
-
0027258694
-
Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates
-
Sands MS, Barker JE, Vogler C et al (1993) Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates. Lab Invest 68:676–686
-
(1993)
Lab Invest
, vol.68
, pp. 676-686
-
-
Sands, M.S.1
Barker, J.E.2
Vogler, C.3
-
31
-
-
0029130027
-
Syngeneic bone marrow transplantation reduces the hearing loss associated with murine mucopolysaccharidosis type VII
-
Sands MS, Erway LC, Vogler C et al (1995) Syngeneic bone marrow transplantation reduces the hearing loss associated with murine mucopolysaccharidosis type VII. Blood 86:2033–2040
-
(1995)
Blood
, vol.86
, pp. 2033-2040
-
-
Sands, M.S.1
Erway, L.C.2
Vogler, C.3
-
32
-
-
0035894949
-
Observation of antigen-dependent CD8+ T-cell/dendritic cell interactions in vivo
-
Schaefer BC, Schaefer ML, Kappler JW et al (2001) Observation of antigen-dependent CD8+ T-cell/dendritic cell interactions in vivo. Cell Immunol 214:110–122
-
(2001)
Cell Immunol
, vol.214
, pp. 110-122
-
-
Schaefer, B.C.1
Schaefer, M.L.2
Kappler, J.W.3
-
33
-
-
0029146242
-
Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation
-
Shapiro EG, Lockman LA, Balthazor M et al (1995) Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 18:413–429
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 413-429
-
-
Shapiro, E.G.1
Lockman, L.A.2
Balthazor, M.3
-
34
-
-
6944234040
-
Bone marrow stem cells have the ability to populate the entire central nervous system into fully differentiated parenchymal microglia
-
Simard AR, Rivest S (2004) Bone marrow stem cells have the ability to populate the entire central nervous system into fully differentiated parenchymal microglia. Faseb J 18:998–1000
-
(2004)
Faseb J
, vol.18
, pp. 998-1000
-
-
Simard, A.R.1
Rivest, S.2
-
35
-
-
0032841451
-
Bone marrow transplantation in mucopolysaccharidosis type IIIA: A comparison of an early treated patient with his untreated sibling
-
Sivakumur P, Wraith JE (1999) Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling. J Inherit Metab Dis 22:849–850
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 849-850
-
-
Sivakumur, P.1
Wraith, J.E.2
-
36
-
-
55349102335
-
Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA mice
-
Sutherland LS, Hemsley KM, Hopwood JJ (2008) Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA mice. Cell Mol Neurobiol 28:949–959
-
(2008)
Cell Mol Neurobiol
, vol.28
, pp. 949-959
-
-
Sutherland, L.S.1
Hemsley, K.M.2
Hopwood, J.J.3
-
38
-
-
46049114060
-
Neuraminidase 1 is a negative regulator of lysosomal exocytosis
-
Yogalingam G, Bonten EJ, van de Vlekkert D et al (2008) Neuraminidase 1 is a negative regulator of lysosomal exocytosis. Dev Cell 15:74–86
-
(2008)
Dev Cell
, vol.15
, pp. 74-86
-
-
Yogalingam, G.1
Bonten, E.J.2
van de Vlekkert, D.3
-
39
-
-
4043174204
-
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB
-
Zheng Y, Ryazantsev S, Ohmi K et al (2004) Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. Mol Genet Metab 82:286–295
-
(2004)
Mol Genet Metab
, vol.82
, pp. 286-295
-
-
Zheng, Y.1
Ryazantsev, S.2
Ohmi, K.3
|