-
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0032960253
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Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: Implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures
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1 Erlich S, Miranda SRP, Visser JWM, Dagan A, Gatt S, Schuchman EH: Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures. Blood 1999, 93:80-86. The engraftment of transduced stem cells used in gene therapies for NPD is improved by a nontoxic fluorescence-based selection method that relies on enzymatic expression of ASM.
-
(1999)
Blood
, vol.93
, pp. 80-86
-
-
Erlich, S.1
Miranda, S.R.P.2
Visser, J.W.M.3
Dagan, A.4
Gatt, S.5
Schuchman, E.H.6
-
2
-
-
0032934036
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Sphingosyl phosphorylcholine in Niemann-Pick disease brain: Accumulation in type A but not type B
-
2 Rodriguez-Lafrasse C, Vanier MT: Sphingosyl phosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not type B. Neurochem Res 1999, 24:199-205. Lysosphingolipids are suspected as offending metabolites in the brain of patients with sphingolipid storage diseases.
-
(1999)
Neurochem Res
, vol.24
, pp. 199-205
-
-
Rodriguez-Lafrasse, C.1
Vanier, M.T.2
-
3
-
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0030743788
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Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency
-
3 Pavlu H, Elleder M: Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. J Inherit Metab Dis 1997, 20:615-616.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 615-616
-
-
Pavlu, H.1
Elleder, M.2
-
4
-
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0033022524
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MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency
-
4 Obenberger J, Seidl Z, Pavlu H, Elleder M: MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. Neuroradiology 1999, 41:182-184.
-
(1999)
Neuroradiology
, vol.41
, pp. 182-184
-
-
Obenberger, J.1
Seidl, Z.2
Pavlu, H.3
Elleder, M.4
-
5
-
-
0030863352
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Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
5 Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, et al.: Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 1997, 277:228-231.
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.D.1
Morris, J.A.2
Coleman, K.G.3
Loftus, S.K.4
Zhang, D.5
Cummings, C.6
-
6
-
-
0030808773
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Adult-onset Niemann-Pick type C disease: Clinical, biochemical and genetic study
-
6 Lossos A, Schlesinger I, Okon E, Abramsky O, Bargal R, Vanier MT, Zeigler M: Adult-onset Niemann-Pick Type C disease: clinical, biochemical and genetic study. Arch Neurol 1997, 54:1536-1541.
-
(1997)
Arch Neurol
, vol.54
, pp. 1536-1541
-
-
Lossos, A.1
Schlesinger, I.2
Okon, E.3
Abramsky, O.4
Bargal, R.5
Vanier, M.T.6
Zeigler, M.7
-
9
-
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0033055542
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An adult with a non-neuronopathic form of Niemann-Pick C disease
-
9 Fensom AH, Grant AR, Steinberg SJ, Ward CP, Lake BD, Logan EC, Hulman G: An adult with a non-neuronopathic form of Niemann-Pick C disease. J Inherit Metab Dis 1999, 22:84-86.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 84-86
-
-
Fensom, A.H.1
Grant, A.R.2
Steinberg, S.J.3
Ward, C.P.4
Lake, B.D.5
Logan, E.C.6
Hulman, G.7
-
10
-
-
0031978043
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Nova Scotia Niemann-Pick disease (type D): Clinical study of 20 cases
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10 Jan MMS, Camfield PR: Nova Scotia Niemann-Pick disease (Type D): clinical study of 20 cases. J Child Neurol 1998, 13:75-78. Phenotypic variability in a large series of children with the type D variant of NPD occurs in spite of a single genetic defect.
-
(1998)
J Child Neurol
, vol.13
, pp. 75-78
-
-
Jan, M.M.S.1
Camfield, P.R.2
-
11
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0030814587
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Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C
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11 Greer WL, Riddell DC, Byers DM, Welch JP, Girouard GS, Sparrow SM, et al.: Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. Am J Hum Genet 1997, 61:139-142.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 139-142
-
-
Greer, W.L.1
Riddell, D.C.2
Byers, D.M.3
Welch, J.P.4
Girouard, G.S.5
Sparrow, S.M.6
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12
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0031882520
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Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group
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12 Schofer O, Mischo B, Puschel W, Harzer K, Vanier MT: Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group. Eur J Pediatr 1998, 157:45-49. The phenotypic appearance of a second complementation group of NP-C is described.
-
(1998)
Eur J Pediatr
, vol.157
, pp. 45-49
-
-
Schofer, O.1
Mischo, B.2
Puschel, W.3
Harzer, K.4
Vanier, M.T.5
-
13
-
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0029845517
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Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups α and β stimulates LDL-derived cholesterol esterification
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13 Steinberg SJ, Mondal D, Fensom AH: Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups α and β stimulates LDL-derived cholesterol esterification. J Inherit Metab Dis 1996, 19: 769-774.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 769-774
-
-
Steinberg, S.J.1
Mondal, D.2
Fensom, A.H.3
-
14
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15644375176
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Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: Insights on normal metabolism of HDL and LDL gained from the NP-C mutation
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14 Shamburek RD, Pentchev PG, Zech LA, Blanchette-Mackie J, Carstea ED, VandenBroek JM, et al.: Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: insights on normal metabolism of HDL and LDL gained from the NP-C mutation. J Lipid Res 1997, 38:2422-2435.
-
(1997)
J Lipid Res
, vol.38
, pp. 2422-2435
-
-
Shamburek, R.D.1
Pentchev, P.G.2
Zech, L.A.3
Blanchette-Mackie, J.4
Carstea, E.D.5
VandenBroek, J.M.6
-
15
-
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1642454485
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Localization of Niemann-Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann-Pick type C disease
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15 Patel SC, Suresh S, Kumar U, Hu CY, Cooney A, Blanchette EJ, et al.: Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann-Pick type C disease. Proc Natl Acad Sci U S A 1999, 96:1657-1662. The localization of the NPC-1 protein to astrocytic processes supports a role for mutant NPC-1 protein in the pathogenesis of NP-C.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 1657-1662
-
-
Patel, S.C.1
Suresh, S.2
Kumar, U.3
Hu, C.Y.4
Cooney, A.5
Blanchette, E.J.6
-
17
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0033515560
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The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
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17 Neufeld EB, Wastney M, Patel S, Sundar S, Cooney AM, Dwyer NK, et al.: The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem 1999, 274:9627-9635. A generalized defect in retrograde vesicular transport from lysosomes to endosomal compartments in NP-C is proposed.
-
(1999)
J Biol Chem
, vol.274
, pp. 9627-9635
-
-
Neufeld, E.B.1
Wastney, M.2
Patel, S.3
Sundar, S.4
Cooney, A.M.5
Dwyer, N.K.6
-
18
-
-
0032892536
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Lipid changes in Niemann-Pick disease type C brain: Personal experience and review of the literature
-
18 Vanier MT: Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature. Neurochem Res 1999, 24:481-489.
-
(1999)
Neurochem Res
, vol.24
, pp. 481-489
-
-
Vanier, M.T.1
-
20
-
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0031840677
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Activation of a plasma membrane-associated neutral sphingomyelinase and concomitant ceramide accumulation during IgG-dependent phagocytosis in human polymorphonuclear leukocytes
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20 Hinkouska-Galcheua V, Kjeldseu L, Mansfield PJ, Boxer LA, Shayman JA, Suchard SJ: Activation of a plasma membrane-associated neutral sphingomyelinase and concomitant ceramide accumulation during IgG-dependent phagocytosis in human polymorphonuclear leukocytes. Blood 1998, 91:4761-4769.
-
(1998)
Blood
, vol.91
, pp. 4761-4769
-
-
Hinkouska-Galcheua, V.1
Kjeldseu, L.2
Mansfield, P.J.3
Boxer, L.A.4
Shayman, J.A.5
Suchard, S.J.6
-
21
-
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0032952029
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Transcription factors Spl and AP-2 mediate induction of acid sphingomyelinase during monocytic differentiation
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21 Langmann T, Buechler C, Ries S, Schaeffler A, Aslanides C, Schuierer M, et al.: Transcription factors Spl and AP-2 mediate induction of acid sphingomyelinase during monocytic differentiation. J Lipid Res 1999, 40:870-880.
-
(1999)
J Lipid Res
, vol.40
, pp. 870-880
-
-
Langmann, T.1
Buechler, C.2
Ries, S.3
Schaeffler, A.4
Aslanides, C.5
Schuierer, M.6
-
23
-
-
0344349001
-
Signalling sphingomyelinase: Which, where, how and why?
-
23 Levade T, Jaffrezou J-P: Signalling Sphingomyelinase: which, where, how and why? Biochim Biophys Acta 1999, 1438:1-7. This is a comprehensive review of signaling sphingomyelinases and how they are regulated. The specific role of the acid sphinomyelinases is examined and studies involving NPD type A cells are tabulated.
-
(1999)
Biochim Biophys Acta
, vol.1438
, pp. 1-7
-
-
Levade, T.1
Jaffrezou, J.-P.2
-
24
-
-
0030775369
-
Acidic sphingomyelinase mediates entry of N. Gonorrhoeae into nonphagocytic cells
-
24 Grassme H, Gulbins E, Brenner B, Ferlinz K, Sandhoff K, Harzer K, et al.: Acidic Sphingomyelinase mediates entry of N. gonorrhoeae into nonphagocytic cells. Cell 1997, 91:605-615.
-
(1997)
Cell
, vol.91
, pp. 605-615
-
-
Grassme, H.1
Gulbins, E.2
Brenner, B.3
Ferlinz, K.4
Sandhoff, K.5
Harzer, K.6
-
25
-
-
0031406064
-
Pathology of visceral organs and bone marrow in an acid sphingomyelinase deficient knock-out mouse line, mimicking human Niemann-Pick disease type A: A light and electron microscopic study
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25 Kuemmel TA, Thiele J, Schroeder R, Stoffel W: Pathology of visceral organs and bone marrow in an acid sphingomyelinase deficient knock-out mouse line, mimicking human Niemann-Pick disease type A: a light and electron microscopic study. Pathol Res Pract 1997, 193:663-671.
-
(1997)
Pathol Res Pract
, vol.193
, pp. 663-671
-
-
Kuemmel, T.A.1
Thiele, J.2
Schroeder, R.3
Stoffel, W.4
-
26
-
-
0032522712
-
Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells in acid sphingomyelinase-deficient mice
-
26 Miranda SRP, Erlich S, Friedrick VL Jr, Haskins ME, Gatt S, Schuchman EH: Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells in acid sphingomyelinase-deficient mice. Transplantation 1998, 65:884-892. Acid sphingomyelinase-deficient knockout mice are improved by bone marrow transplantation administered following a sublethal dose of total body irradiation.
-
(1998)
Transplantation
, vol.65
, pp. 884-892
-
-
Miranda, S.R.P.1
Erlich, S.2
Friedrick V.L., Jr.3
Haskins, M.E.4
Gatt, S.5
Schuchman, E.H.6
-
27
-
-
0030768084
-
Murine model of Niemann-Pick disease: Mutation in cholesterol homeostasis gene
-
27 Loftus SK, Morris JA, Carstea ED, Cummings C, Brown A, Ellison J, et al.: Murine model of Niemann-Pick disease: mutation in cholesterol homeostasis gene. Science 1997, 277:232-235.
-
(1997)
Science
, vol.277
, pp. 232-235
-
-
Loftus, S.K.1
Morris, J.A.2
Carstea, E.D.3
Cummings, C.4
Brown, A.5
Ellison, J.6
-
28
-
-
0032776342
-
Complementation studies in human and feline Niemann-Pick type C disease
-
28 Somers KL, Wenger DA, Royals MA, Carstea ED, Connally HE, Kelly T, et al.: Complementation studies in human and feline Niemann-Pick type C disease. Mol Genet Metab 1999, 66:117-121.
-
(1999)
Mol Genet Metab
, vol.66
, pp. 117-121
-
-
Somers, K.L.1
Wenger, D.A.2
Royals, M.A.3
Carstea, E.D.4
Connally, H.E.5
Kelly, T.6
-
29
-
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0031962339
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Cellular cholesterol storage in the Niemann-Pick disease type C mouse is associated with increased expression and defective processing of apolipoprotein D
-
29 Suresh S, Yan Z, Patel RC, Patel YC, Patel SC: Cellular cholesterol storage in the Niemann-Pick disease type C mouse is associated with increased expression and defective processing of apolipoprotein D. J Neurochem 1998, 70:242-251. A blockade in apolipoprotein D release from astrocytes in NP-C is described and correlated with the appearance of neurofibrillary tangles in this disease.
-
(1998)
J Neurochem
, vol.70
, pp. 242-251
-
-
Suresh, S.1
Yan, Z.2
Patel, R.C.3
Patel, Y.C.4
Patel, S.C.5
-
30
-
-
0031792786
-
Reduced cholesterol accumulation and improved deficient peroxisomal functions in a murine model of Niemann-Pick type C disease upon treatment with peroxisomal proliferators
-
30 Schedin S, Pentchev P, Dallner G: Reduced cholesterol accumulation and improved deficient peroxisomal functions in a murine model of Niemann-Pick type C disease upon treatment with peroxisomal proliferators. Biochem Pharmacol 1998, 56:1195-1199. An improvement in peroxisomal function in NP-C could potentially alleviate this disease.
-
(1998)
Biochem Pharmacol
, vol.56
, pp. 1195-1199
-
-
Schedin, S.1
Pentchev, P.2
Dallner, G.3
-
31
-
-
0030941491
-
Treatment of patients with Niemann-Pick type is using repeated amniotic epithelial cell implantation: Correction of aggregation and coagulation abnormalities
-
31 Cerneca F, Andolina M, Simeone R, Boscolo R, Ciana G, Bemli B: Treatment of patients with Niemann-Pick type is using repeated amniotic epithelial cell implantation: correction of aggregation and coagulation abnormalities. Clin Pediatr 1997, 36:147-148.
-
(1997)
Clin Pediatr
, vol.36
, pp. 147-148
-
-
Cerneca, F.1
Andolina, M.2
Simeone, R.3
Boscolo, R.4
Ciana, G.5
Bemli, B.6
-
32
-
-
0033057292
-
Dietary pectin lowers sphingomyelin concentration in VLDL and raises hepatic sphingomyelinase activity in rats
-
32 Blandergroen BA, Beynen AL, Geelen MJ: Dietary pectin lowers sphingomyelin concentration in VLDL and raises hepatic sphingomyelinase activity in rats. J Nutr 1999, 129:628-633.
-
(1999)
J Nutr
, vol.129
, pp. 628-633
-
-
Blandergroen, B.A.1
Beynen, A.L.2
Geelen, M.J.3
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