-
1
-
-
0000831301
-
Niemann-Pick disease type C: A lipid trafficking disorder
-
(eds. Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) (McGraw-Hill, New York)
-
Patterson, M.C. et al. Niemann-Pick disease type C: a lipid trafficking disorder. in The Metabolic and Molecular Bases of Inherited Disease (eds. Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 3611-3633 (McGraw-Hill, New York, 2001).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3611-3633
-
-
Patterson, M.C.1
-
2
-
-
0024459132
-
Clinical spectrum of Niemann-Pick disease type C
-
Fink, J.K. et al. Clinical spectrum of Niemann-Pick disease type C. Neurology 39, 1040-1049 (1989).
-
(1989)
Neurology
, vol.39
, pp. 1040-1049
-
-
Fink, J.K.1
-
3
-
-
0141886877
-
Niemann-Pick disease type C
-
Vanier, M.T. & Millat, G. Niemann-Pick disease type C. Clin. Genet. 64, 269-281 (2003).
-
(2003)
Clin. Genet.
, vol.64
, pp. 269-281
-
-
Vanier, M.T.1
Millat, G.2
-
4
-
-
0029655528
-
Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
-
Vanier, M.T., Duthel, S., Rodriguez-Lafrasse, C., Pentchev, P. & Carstea, E.D. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am. J. Hum. Genet. 58, 118-125 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 118-125
-
-
Vanier, M.T.1
Duthel, S.2
Rodriguez-Lafrasse, C.3
Pentchev, P.4
Carstea, E.D.5
-
5
-
-
0034704245
-
Identification of HE1 as the second gene of Niemann-Pick C disease
-
Naureckiene, S. et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290, 2298-2301 (2000).
-
(2000)
Science
, vol.290
, pp. 2298-2301
-
-
Naureckiene, S.1
-
6
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
Carstea, E.D. et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277, 228-231 (1997).
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.D.1
-
7
-
-
0026550419
-
Niemann-Pick type-C disease: Deficient intracellular transport of exogenously derived cholesterol
-
Roff, C.F. et al. Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol. Am. J. Med. Genet. 42, 593-598 (1992).
-
(1992)
Am. J. Med. Genet.
, vol.42
, pp. 593-598
-
-
Roff, C.F.1
-
8
-
-
0034731466
-
Fate of endogenously synthesized cholesterol in Niemann-Pick type C1 cells
-
Cruz, J.C. & Chang, T.Y. Fate of endogenously synthesized cholesterol in Niemann-Pick type C1 cells. J. Biol. Chem. 275, 41309-41316 (2000).
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 41309-41316
-
-
Cruz, J.C.1
Chang, T.Y.2
-
9
-
-
0035142802
-
Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
-
Zervas, M., Dobrenis, K. & Walkley, S.U. Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J. Neuropathol. Exp. Neurol. 60, 49-64 (2001).
-
(2001)
J. Neuropathol. Exp. Neurol.
, vol.60
, pp. 49-64
-
-
Zervas, M.1
Dobrenis, K.2
Walkley, S.U.3
-
10
-
-
0019977775
-
Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics
-
Morris, M.D., Bhuvaneswaran, C., Shio, H. & Fowler, S. Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics. Am. J. Pathol. 108, 140-149 (1982).
-
(1982)
Am. J. Pathol.
, vol.108
, pp. 140-149
-
-
Morris, M.D.1
Bhuvaneswaran, C.2
Shio, H.3
Fowler, S.4
-
11
-
-
0030768084
-
Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene
-
Loftus, S.K. et al. Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 277, 232-235 (1997).
-
(1997)
Science
, vol.277
, pp. 232-235
-
-
Loftus, S.K.1
-
12
-
-
0027411657
-
Cerebellar degeneration in the Niemann-Pick type C mouse
-
Higashi, Y., Murayama, S., Pentchev, P.G. & Suzuki, K. Cerebellar degeneration in the Niemann-Pick type C mouse. Acta Neuropathol. (Berl.) 85, 175-184 (1993).
-
(1993)
Acta Neuropathol. (Berl.)
, vol.85
, pp. 175-184
-
-
Higashi, Y.1
Murayama, S.2
Pentchev, P.G.3
Suzuki, K.4
-
13
-
-
0034750568
-
Neurodegeneration in Niemann-Pick type C disease mice
-
Ong, W.Y. et al. Neurodegeneration in Niemann-Pick type C disease mice. Exp. Brain Res. 141, 218-231 (2001).
-
(2001)
Exp. Brain Res.
, vol.141
, pp. 218-231
-
-
Ong, W.Y.1
-
14
-
-
0037396865
-
Understanding Niemann-Pick type C disease: A fat problem
-
Vincent, I., Bu, B. & Erickson, R.P. Understanding Niemann-Pick type C disease: a fat problem. Curr. Opin. Neurol. 16, 155-161 (2003).
-
(2003)
Curr. Opin. Neurol.
, vol.16
, pp. 155-161
-
-
Vincent, I.1
Bu, B.2
Erickson, R.P.3
-
15
-
-
0034534808
-
Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased
-
Xie, C., Burns, D.K. Turley, S.D. & Dietschy, J.M. Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased. J. Neuropathol. Exp. Neurol. 59, 1106-1117 (2000).
-
(2000)
J. Neuropathol. Exp. Neurol.
, vol.59
, pp. 1106-1117
-
-
Xie, C.1
Burns, D.K.2
Turley, S.D.3
Dietschy, J.M.4
-
16
-
-
0141459395
-
Quantitation of two pathways for cholesterol excretion from the brain in normal mice and mice with neurodegeneration
-
Xie, C., Lund, E.G., Turley, S.D., Russell, D.W. & Dietschy, J.M. Quantitation of two pathways for cholesterol excretion from the brain in normal mice and mice with neurodegeneration. J. Lipid Res. 44, 1780-1789 (2003).
-
(2003)
J. Lipid Res.
, vol.44
, pp. 1780-1789
-
-
Xie, C.1
Lund, E.G.2
Turley, S.D.3
Russell, D.W.4
Dietschy, J.M.5
-
17
-
-
0021047598
-
Isocortical pathology in type C Niemann-Pick disease. A combined Golgi-pigmentoarchitectonic study
-
Braak, H., Braak, E. & Goebel, H.H. Isocortical pathology in type C Niemann-Pick disease. A combined Golgi-pigmentoarchitectonic study. J. Neuropathol. Exp. Neurol. 42, 671-687 (1983).
-
(1983)
J. Neuropathol. Exp. Neurol.
, vol.42
, pp. 671-687
-
-
Braak, H.1
Braak, E.2
Goebel, H.H.3
-
18
-
-
0028922151
-
Neurofibrillary tangles in Niemann-Pick disease type C
-
Suzuki, K. et al. Neurofibrillary tangles in Niemann-Pick disease type C. Acta Neuropathol. (Berl.) 89, 227-238 (1995).
-
(1995)
Acta Neuropathol. (Berl.)
, vol.89
, pp. 227-238
-
-
Suzuki, K.1
-
19
-
-
0035821438
-
Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease
-
German, D.C. et al. Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease. J. Comp. Neurol. 433, 415-425 (2001).
-
(2001)
J. Comp. Neurol.
, vol.433
, pp. 415-425
-
-
German, D.C.1
-
20
-
-
0031905046
-
GM2 ganglioside as a regulator of pyramidal neuron dendritogenesis
-
Walkley, S.U., Siegel, D.A., Dobrenis, K. & Zervas, M. GM2 ganglioside as a regulator of pyramidal neuron dendritogenesis. Ann. NY Acad. Sci. 845, 188-199 (1998).
-
(1998)
Ann. NY Acad. Sci.
, vol.845
, pp. 188-199
-
-
Walkley, S.U.1
Siegel, D.A.2
Dobrenis, K.3
Zervas, M.4
-
21
-
-
0035928841
-
Critical role for glycosphingolipids in Niemann-Pick disease type C
-
Zervas, M., Somers, K.L., Thrall, M.A. & Walkley, S.U. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr. Biol. 11, 1283-1287 (2001).
-
(2001)
Curr. Biol.
, vol.11
, pp. 1283-1287
-
-
Zervas, M.1
Somers, K.L.2
Thrall, M.A.3
Walkley, S.U.4
-
22
-
-
0034639928
-
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse
-
Liu, Y. et al. Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse. Hum. Mol. Genet. 9, 1087-1092 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1087-1092
-
-
Liu, Y.1
-
23
-
-
0041700117
-
Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent
-
Gondre-Lewis, M.C., McGlynn, R. & Walkley, S.U. Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent. Curr. Biol. 13, 1324-1329 (2003).
-
(2003)
Curr. Biol.
, vol.13
, pp. 1324-1329
-
-
Gondre-Lewis, M.C.1
McGlynn, R.2
Walkley, S.U.3
-
24
-
-
0027142422
-
The murine Niemann-Pick type C lesion affects testosterone production
-
Roff, C.F. et al. The murine Niemann-Pick type C lesion affects testosterone production. Endocrinology 133, 2913-2923 (1993).
-
(1993)
Endocrinology
, vol.133
, pp. 2913-2923
-
-
Roff, C.F.1
-
25
-
-
0033953033
-
Neurosteroids: Biosynthesis and function of these novel neuromodulators
-
Compagnone, N.A. & Mellon, S.H. Neurosteroids: biosynthesis and function of these novel neuromodulators. Front. Neuroendocrinol. 21, 1-56 (2000).
-
(2000)
Front. Neuroendocrinol.
, vol.21
, pp. 1-56
-
-
Compagnone, N.A.1
Mellon, S.H.2
-
27
-
-
0028005888
-
The neurosteroid 3α-hydroxy-5α-pregnan-20-one induces cytoarchitectural regression in cultured fetal hippocampal neurons
-
Brinton, R.D. The neurosteroid 3α-hydroxy-5α-pregnan-20-one induces cytoarchitectural regression in cultured fetal hippocampal neurons. J. Neurosci. 14, 2763-2774 (1994).
-
(1994)
J. Neurosci.
, vol.14
, pp. 2763-2774
-
-
Brinton, R.D.1
-
28
-
-
0034724372
-
Progesterone-metabolite prevents protein kinase C-dependent modulation of γ-aminobutyric acid type A receptors in oxytocin neurons
-
Brussaard, A.B., Wossink, J., Lodder, J.C. & Kits, K.S. Progesterone-metabolite prevents protein kinase C-dependent modulation of γ-aminobutyric acid type A receptors in oxytocin neurons. Proc. Natl. Acad. Sci. USA 97, 3625-3630 (2000).
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 3625-3630
-
-
Brussaard, A.B.1
Wossink, J.2
Lodder, J.C.3
Kits, K.S.4
-
29
-
-
0032573169
-
Role of brain allopregnanolone in the plasticity of γ-aminobutyric acid type A receptor in rat brain during pregnancy and after delivery
-
Concas, A. et al. Role of brain allopregnanolone in the plasticity of γ-aminobutyric acid type A receptor in rat brain during pregnancy and after delivery. Proc. Natl. Acad. Sci. USA 95, 13284-13289. (1998).
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 13284-13289
-
-
Concas, A.1
-
30
-
-
0037338155
-
Perinatal neurosteroid levels influence GABAergic interneuron localization in adult rat prefrontal cortex
-
Grobin, A.C., Heenan, E.J., Lieberman, J.A. & Morrow, A.L. Perinatal neurosteroid levels influence GABAergic interneuron localization in adult rat prefrontal cortex. J. Neurosci. 23, 1832-1839 (2003).
-
(2003)
J. Neurosci.
, vol.23
, pp. 1832-1839
-
-
Grobin, A.C.1
Heenan, E.J.2
Lieberman, J.A.3
Morrow, A.L.4
-
31
-
-
0024064517
-
Molecular biology of steroid hormone synthesis
-
Miller, W.L. Molecular biology of steroid hormone synthesis. Endocr. Rev. 9, 295-318 (1988).
-
(1988)
Endocr. Rev.
, vol.9
, pp. 295-318
-
-
Miller, W.L.1
-
32
-
-
0024357291
-
5α-pregnan-3α,20α-diol behaves like a partial agonist in the modulation of GABA-stimulated chloride ion uptake by synaptoneurosomes
-
Belelli, D. & Gee, K.W. 5α-Pregnan-3α,20α-diol behaves like a partial agonist in the modulation of GABA-stimulated chloride ion uptake by synaptoneurosomes. Eur. J. Pharmacol. 167, 173-176 (1989).
-
(1989)
Eur. J. Pharmacol.
, vol.167
, pp. 173-176
-
-
Belelli, D.1
Gee, K.W.2
-
33
-
-
0025353194
-
Synthesis, metabolism, and pharmacological activity of 3α-hydroxy steroids which potentiate GABA-receptor-mediated chloride ion uptake in rat cerebral cortical synaptoneurosomes
-
Purdy, R.H., Morrow, A.L., Blinn, J.R. & Paul, S.M. Synthesis, metabolism, and pharmacological activity of 3α-hydroxy steroids which potentiate GABA-receptor-mediated chloride ion uptake in rat cerebral cortical synaptoneurosomes. J. Med. Chem. 33, 1572-1581 (1990).
-
(1990)
J. Med. Chem.
, vol.33
, pp. 1572-1581
-
-
Purdy, R.H.1
Morrow, A.L.2
Blinn, J.R.3
Paul, S.M.4
-
34
-
-
0033840652
-
Regional and developmental expression of the Npc1 mRNA in the mouse brain
-
Prasad, A., Fischer, W.A., Maue, R.A. & Henderson, L.P. Regional and developmental expression of the Npc1 mRNA in the mouse brain. J. Neurochem. 75, 1250-1257 (2000).
-
(2000)
J. Neurochem.
, vol.75
, pp. 1250-1257
-
-
Prasad, A.1
Fischer, W.A.2
Maue, R.A.3
Henderson, L.P.4
-
35
-
-
0034733750
-
Embryonic striatal neurons from Niemann-Pick type C mice exhibit defects in cholesterol metabolism and neurotrophin responsiveness
-
Henderson, L.P. et al. Embryonic striatal neurons from Niemann-Pick type C mice exhibit defects in cholesterol metabolism and neurotrophin responsiveness. J. Biol. Chem. 275, 20179-20187 (2000).
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 20179-20187
-
-
Henderson, L.P.1
-
36
-
-
0035120455
-
Strain and gender differences in the behavior of mouse lines commonly used in transgenic studies
-
Voikar, V., Koks, S., Vasar, E. & Rauvala, H. Strain and gender differences in the behavior of mouse lines commonly used in transgenic studies. Physiol. Behav. 72, 271-281 (2001).
-
(2001)
Physiol. Behav.
, vol.72
, pp. 271-281
-
-
Voikar, V.1
Koks, S.2
Vasar, E.3
Rauvala, H.4
-
38
-
-
0028944669
-
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis
-
Lin, D. et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 267, 1828-1831 (1995).
-
(1995)
Science
, vol.267
, pp. 1828-1831
-
-
Lin, D.1
-
39
-
-
0037591389
-
StAR-related lipid transfer (START) proteins: Mediators of intracellular lipid metabolism
-
Soccio, R.E. & Breslow, J.L. StAR-related lipid transfer (START) proteins: mediators of intracellular lipid metabolism. J. Biol. Chem. 278, 22183-22186 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 22183-22186
-
-
Soccio, R.E.1
Breslow, J.L.2
-
40
-
-
0033539661
-
Selective serotonin reuptake inhibitors directly alter activity of neurosteroidogenic enzymes
-
Griffin, L.D. & Mellon, S.H. Selective serotonin reuptake inhibitors directly alter activity of neurosteroidogenic enzymes. Proc. Natl. Acad. Sci. USA 96, 13512-13517 (1999).
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 13512-13517
-
-
Griffin, L.D.1
Mellon, S.H.2
-
41
-
-
0034751590
-
Biosynthesis of the neurosteroid 3α-hydroxy-4-pregnen-20-one (3α HP), a specific inhibitor of FSH release
-
Griffin, L.D. & Mellon, S.H. Biosynthesis of the neurosteroid 3α-hydroxy-4-pregnen-20-one (3α HP), a specific inhibitor of FSH release. Endocrinology 142, 4617-4622 (2001).
-
(2001)
Endocrinology
, vol.142
, pp. 4617-4622
-
-
Griffin, L.D.1
Mellon, S.H.2
-
42
-
-
0030757791
-
Synthesis, metabolism and levels of the neuroactive steroid, 3α-hydroxy-4-pregnen-20-one (3αHP), in rat pituitaries
-
Wiebe, J.P., Boushy, D. & Wolfe, M. Synthesis, metabolism and levels of the neuroactive steroid, 3α-hydroxy-4-pregnen-20-one (3αHP), in rat pituitaries. Brain Res. 764, 158-166 (1997).
-
(1997)
Brain Res.
, vol.764
, pp. 158-166
-
-
Wiebe, J.P.1
Boushy, D.2
Wolfe, M.3
-
43
-
-
0025030029
-
Radioimmunoassay of 3α-hydroxy-5α-pregnan-20-one in rat and human plasma
-
Purdy, R.H. et al. Radioimmunoassay of 3α-hydroxy-5α-pregnan- 20-one in rat and human plasma. Steroids 55, 290-296 (1990).
-
(1990)
Steroids
, vol.55
, pp. 290-296
-
-
Purdy, R.H.1
-
44
-
-
0027398066
-
Regulation of proteins in the cholesterol side-chain cleavage system in JEG-3 and Y-1 cells
-
Black, S.M. et al. Regulation of proteins in the cholesterol side-chain cleavage system in JEG-3 and Y-1 cells. Endocrinology 132, 539-545 (1993).
-
(1993)
Endocrinology
, vol.132
, pp. 539-545
-
-
Black, S.M.1
-
45
-
-
0028203806
-
Immunocytochemical localization of 4-ene steroid 5α-reductase type 1 along the rat epididymis during postnatal development
-
Viger, R.S. & Robaire, B. Immunocytochemical localization of 4-ene steroid 5α-reductase type 1 along the rat epididymis during postnatal development. Endocrinology 134, 2298-2306 (1994).
-
(1994)
Endocrinology
, vol.134
, pp. 2298-2306
-
-
Viger, R.S.1
Robaire, B.2
-
46
-
-
0025341432
-
3β-hydroxysteroid dehydrogenase/isomerase in the fetal zone and neocortex of the human fetal adrenal gland
-
Doody, K.M. et al. 3β-hydroxysteroid dehydrogenase/isomerase in the fetal zone and neocortex of the human fetal adrenal gland. Endocrinology 126, 2487-2492 (1990).
-
(1990)
Endocrinology
, vol.126
, pp. 2487-2492
-
-
Doody, K.M.1
-
47
-
-
0043027007
-
Behavioral phenotyping of mice in pharmacological and toxicological research
-
Karl, T., Pabst, R. & von Horsten, S. Behavioral phenotyping of mice in pharmacological and toxicological research. Exp. Toxicol. Pathol. 55, 69-83 (2003).
-
(2003)
Exp. Toxicol. Pathol.
, vol.55
, pp. 69-83
-
-
Karl, T.1
Pabst, R.2
Von Horsten, S.3
-
48
-
-
0028919411
-
A sensitive and reliable locomotor rating scale for open field testing in rats
-
Basso, D.M., Beattie, M.S. & Bresnahan, J.C. A sensitive and reliable locomotor rating scale for open field testing in rats. J. Neurotrauma 12, 1-21 (1995).
-
(1995)
J. Neurotrauma
, vol.12
, pp. 1-21
-
-
Basso, D.M.1
Beattie, M.S.2
Bresnahan, J.C.3
-
49
-
-
0029982572
-
Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
-
Fujita, N. et al. Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum. Mol. Genet. 5, 711-725 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 711-725
-
-
Fujita, N.1
-
50
-
-
0023320241
-
Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reversed-phase columns
-
Kyrklund, T. Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reversed-phase columns. Lipids 22, 274-277 (1987).
-
(1987)
Lipids
, vol.22
, pp. 274-277
-
-
Kyrklund, T.1
|