-
1
-
-
0031057790
-
A c57BL/ksj mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C
-
Akaboshi S, Yano T, Miyawaki S, Ohno K, Takeshita K (1997) A c57BL/ksj mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C. Hum Genet 99: 350-353
-
(1997)
Hum Genet
, vol.99
, pp. 350-353
-
-
Akaboshi, S.1
Yano, T.2
Miyawaki, S.3
Ohno, K.4
Takeshita, K.5
-
2
-
-
0025801545
-
Type C Niemann-Pick disease: Cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol
-
Argoff CE, Comly ME, Blanchette Mackie J, Kruth HS, Pye HT, Goldin E, Kaneski C, Vanir MT, Brady RO, Pentchev PG (1991) Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. Biochim Biophys Acta 1096: 319-327
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 319-327
-
-
Argoff, C.E.1
Comly, M.E.2
Blanchette Mackie, J.3
Kruth, H.S.4
Pye, H.T.5
Goldin, E.6
Kaneski, C.7
Vanir, M.T.8
Brady, R.O.9
Pentchev, P.G.10
-
3
-
-
0028840239
-
Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease
-
Auer LA, Schmidt ML, Lee VM-Y, Curry B, Suzuki K, Shin RW. Pentchev PG, Carstea ED, Trojanowski JQ (1995) Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease. Acta Neuropathol (Berl) 90: 547-551
-
(1995)
Acta Neuropathol (Berl)
, vol.90
, pp. 547-551
-
-
Auer, L.A.1
Schmidt, M.L.2
Lee, V.M.-Y.3
Curry, B.4
Suzuki, K.5
Shin, R.W.6
Pentchev, P.G.7
Carstea, E.D.8
Trojanowski, J.Q.9
-
4
-
-
1842314819
-
Type-C Niemann-Pick disease, low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes
-
Blanchette-Mackie EJ, Dwyer NK, Amende LM, Kruth HS, Butler JD, Sokol J, Comly ME, Vanier MT, August JT, Brady RO, Pentchev PG (1988) Type-C Niemann-Pick disease, low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. Proc Natl Acad Sci USA 85: 8022-8026
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 8022-8026
-
-
Blanchette-Mackie, E.J.1
Dwyer, N.K.2
Amende, L.M.3
Kruth, H.S.4
Butler, J.D.5
Sokol, J.6
Comly, M.E.7
Vanier, M.T.8
August, J.T.9
Brady, R.O.10
Pentchev, P.G.11
-
5
-
-
0021047598
-
Isocortical pathology in type C Niemann-Pick disease: A combined Golgipigmento architectonic study
-
Braak H, Braak E, Goebel HH (1983) Isocortical pathology in type C Niemann-Pick disease: a combined Golgipigmento architectonic study. J Neuropathol Exp Neurol 42: 671-687
-
(1983)
J Neuropathol Exp Neurol
, vol.42
, pp. 671-687
-
-
Braak, H.1
Braak, E.2
Goebel, H.H.3
-
6
-
-
0013881132
-
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease
-
Brady RO, Kanfer JN, Mock MB, Fredrickson DS (1966) The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc Natl Acad Sci USA 55: 366-369
-
(1966)
Proc Natl Acad Sci USA
, vol.55
, pp. 366-369
-
-
Brady, R.O.1
Kanfer, J.N.2
Mock, M.B.3
Fredrickson, D.S.4
-
8
-
-
0030941803
-
The SBEBP pathway: Regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor
-
Brown MS, Goldstein JL (1997) The SBEBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor. Cell 89: 331-340
-
(1997)
Cell
, vol.89
, pp. 331-340
-
-
Brown, M.S.1
Goldstein, J.L.2
-
9
-
-
0024394163
-
Defective activity of acyl-CoA:cholesterol O-acyltransferase in Niemann-Pick type C and type D fibroblasts
-
Byers DM, Rastogi SR, Cook HW, Palmer FB, Spence MW (1989) Defective activity of acyl-CoA:cholesterol O-acyltransferase in Niemann-Pick type C and type D fibroblasts. Biochem J 262: 713-719
-
(1989)
Biochem J
, vol.262
, pp. 713-719
-
-
Byers, D.M.1
Rastogi, S.R.2
Cook, H.W.3
Palmer, F.B.4
Spence, M.W.5
-
10
-
-
0025173761
-
Isolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein-cholesterol trafficking
-
Cadigan KM, Spillane DM, Chang TY (1990) Isolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein-cholesterol trafficking. J Cell Biol 110: 295-308
-
(1990)
J Cell Biol
, vol.110
, pp. 295-308
-
-
Cadigan, K.M.1
Spillane, D.M.2
Chang, T.Y.3
-
11
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld M, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos M, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 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
Gu, J.7
Rosenfeld, M.8
Pavan, W.J.9
Krizman, D.B.10
Nagle, J.11
Polymeropoulos, M.12
Sturley, S.L.13
Ioannou, Y.A.14
Higgins, M.E.15
Comly, M.16
Cooney, A.17
Brown, A.18
Kaneski, C.R.19
Blanchette-Mackie, E.J.20
Dwyer, N.K.21
Neufeld, E.B.22
Chang, T.Y.23
Liscum, L.24
Strauss, J.F.25
Ohno, K.26
Zeigler, M.27
Carmi, R.28
Sokol, J.29
Markie, D.30
O'Neill, R.R.31
Van Diggelen, O.P.32
Elleder, M.33
Patterson, M.C.34
Brady, R.O.35
Vanier, M.T.36
Pentchev, P.G.37
Tagle, D.A.38
more..
-
12
-
-
0027512555
-
Linkage of Niemann-Pick disease type C to human chromosome 18
-
Carstea ED, Polymeropoulos MH, Parker CC, Detera Wadleigh SD, O'Neill RR, Patterson MC, Goldin E, Xiao H, Straub RE, Vanier MT, Brady RO, Pentchev PG (1993) Linkage of Niemann-Pick disease type C to human chromosome 18. Proc Natl Acad Sci USA 90: 2002-2004
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 2002-2004
-
-
Carstea, E.D.1
Polymeropoulos, M.H.2
Parker, C.C.3
Detera Wadleigh, S.D.4
O'Neill, R.R.5
Patterson, M.C.6
Goldin, E.7
Xiao, H.8
Straub, R.E.9
Vanier, M.T.10
Brady, R.O.11
Pentchev, P.G.12
-
13
-
-
0022711927
-
Niemann-Pick disease type C. Skin biopsies in parents
-
Ceuterick C, Martin JJ, Foulard M (1986) Niemann-Pick disease type C. Skin biopsies in parents. Neuropediatrics 17: 111-112
-
(1986)
Neuropediatrics
, vol.17
, pp. 111-112
-
-
Ceuterick, C.1
Martin, J.J.2
Foulard, M.3
-
14
-
-
0030221209
-
Ouchterlony double immunodiffusion method demonstrates absence of ferritin immunoreactivity in visceral organs from nine patients with Niemann-Pick disease type C
-
Christomanou H, Harzer K (1996) Ouchterlony double immunodiffusion method demonstrates absence of ferritin immunoreactivity in visceral organs from nine patients with Niemann-Pick disease type C. Biochem Mol Med 58: 176-183
-
(1996)
Biochem Mol Med
, vol.58
, pp. 176-183
-
-
Christomanou, H.1
Harzer, K.2
-
15
-
-
0029131655
-
Deficient ferritin immunoreactivity in visceral organs from four patients with Niemann-Pick disease type C
-
Christomanou H, Kellermann J, Linke RP, Harzer K (1995) Deficient ferritin immunoreactivity in visceral organs from four patients with Niemann-Pick disease type C. Biochem Mol Med 55: 105-115
-
(1995)
Biochem Mol Med
, vol.55
, pp. 105-115
-
-
Christomanou, H.1
Kellermann, J.2
Linke, R.P.3
Harzer, K.4
-
17
-
-
0027155888
-
Differential accumulation of cholesterol in Golgi compartments of normal and Niemann-Pick type C fibroblasts incubated with LDL: A cytochemical freeze-fracture study
-
Coxey RA, Pentchev PG, Campbell G, Blanchette Mackie EJ (1993) Differential accumulation of cholesterol in Golgi compartments of normal and Niemann-Pick type C fibroblasts incubated with LDL: a cytochemical freeze-fracture study. J Lipid Res 34: 1165-1176
-
(1993)
J Lipid Res
, vol.34
, pp. 1165-1176
-
-
Coxey, R.A.1
Pentchev, P.G.2
Campbell, G.3
Blanchette Mackie, E.J.4
-
18
-
-
0001962445
-
The cerebral defect in Tay-Sachs disease and Niemann-Pick disease
-
Crocker AC (1961) The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J Neurochem 7: 68-80
-
(1961)
J Neurochem
, vol.7
, pp. 68-80
-
-
Crocker, A.C.1
-
19
-
-
0027227422
-
Abnormal regulation of low-density lipoprotein-sensitive events in a cholesterol transport mutant
-
Dahl NK, Gutheil WG, Liscum L (1993) Abnormal regulation of low-density lipoprotein-sensitive events in a cholesterol transport mutant. J Biol Chem 268: 16979-16986
-
(1993)
J Biol Chem
, vol.268
, pp. 16979-16986
-
-
Dahl, N.K.1
Gutheil, W.G.2
Liscum, L.3
-
20
-
-
0026738867
-
Isolation and characterization of Chinese hamster ovary cells defective in the intracellular metabolism of low-density lipoprotein-derived cholesterol
-
Dahl NK, Reed KL, Daunais MA, Faust JR, Liscum L (1992) Isolation and characterization of Chinese hamster ovary cells defective in the intracellular metabolism of low-density lipoprotein-derived cholesterol. J Biol Chem 267: 4889-4896
-
(1992)
J Biol Chem
, vol.267
, pp. 4889-4896
-
-
Dahl, N.K.1
Reed, K.L.2
Daunais, M.A.3
Faust, J.R.4
Liscum, L.5
-
21
-
-
0026636046
-
Prenatal diagnosis of Niemann-Pick disease type C
-
de Winter JM, Janse HC, van Diggelen OP, Los FJ, Beemer FA, Kleijer WJ (1992) Prenatal diagnosis of Niemann-Pick disease type C. Clin Chim Acta 208: 173-181
-
(1992)
Clin Chim Acta
, vol.208
, pp. 173-181
-
-
De Winter, J.M.1
Janse, H.C.2
Van Diggelen, O.P.3
Los, F.J.4
Beemer, F.A.5
Kleijer, W.J.6
-
22
-
-
0019399653
-
Neuropathology of various types of Niemann-Pick disease
-
Elleder M, Jirasek A (1981) Neuropathology of various types of Niemann-Pick disease. Acta Neuropathol (Berl) Suppl 7: 201-203
-
(1981)
Acta Neuropathol (Berl) Suppl
, vol.7
, pp. 201-203
-
-
Elleder, M.1
Jirasek, A.2
-
23
-
-
0021830120
-
Niemann-Pick disease type C: Study on the nature of the cerebral storage processes
-
Elleder M, Jirasek A, Smid F, Ledvinova J, Besley GTN (1985) Niemann-Pick disease type C: study on the nature of the cerebral storage processes. Acta Neuropathol (Bert) 66: 325-336
-
(1985)
Acta Neuropathol (Bert)
, vol.66
, pp. 325-336
-
-
Elleder, M.1
Jirasek, A.2
Smid, F.3
Ledvinova, J.4
Besley, G.T.N.5
-
24
-
-
0031138488
-
High-resolution mapping of the spm (Niemann-Pick type C) locus on mouse chromosome 18
-
Erickson RP, Aviles RA, Zhang J, Kozloski MA, Garver WS, Heidenreich RA (1997) High-resolution mapping of the spm (Niemann-Pick type C) locus on mouse chromosome 18. Mam Genome 8: 355-356
-
(1997)
Mam Genome
, vol.8
, pp. 355-356
-
-
Erickson, R.P.1
Aviles, R.A.2
Zhang, J.3
Kozloski, M.A.4
Garver, W.S.5
Heidenreich, R.A.6
-
25
-
-
0024459132
-
Clinical spectrum of Niemann-Pick disease type C
-
Fink JK, Filling Katz MR, Sokol J, Cogan DG, Pikus A, Sontes B, Soong B, Pentchev PG, Comly ME, Brady RO, Barton NW (1989) Clinical spectrum of Niemann-Pick disease type C. Neurology 39: 1040-1049
-
(1989)
Neurology
, vol.39
, pp. 1040-1049
-
-
Fink, J.K.1
Filling Katz, M.R.2
Sokol, J.3
Cogan, D.G.4
Pikus, A.5
Sontes, B.6
Soong, B.7
Pentchev, P.G.8
Comly, M.E.9
Brady, R.O.10
Barton, N.W.11
-
26
-
-
0003263520
-
Sphingomyelin lipidosis: Niemann-Pick disease
-
Stanbury JB, Wyngaarden JB, Fredrickson DS (eds.), 3rd Edition, McGraw-Hill: New York
-
Fredrickson DS, Sloan HR (1972) Sphingomyelin lipidosis: Niemann-Pick disease. In: The Metabolic Basis of Inherited Disease, Stanbury JB, Wyngaarden JB, Fredrickson DS (eds.), 3rd Edition, pp. 783-807, McGraw-Hill: New York
-
(1972)
The Metabolic Basis of Inherited Disease
, pp. 783-807
-
-
Fredrickson, D.S.1
Sloan, H.R.2
-
27
-
-
0026648695
-
Type C Niemann-Pick disease: A munne model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver
-
Goldin E, Roff CF, Miller SP, Rodriguez Lafrasse C, Vanier MT, Brady RO, Pentchev PG (1992) Type C Niemann-Pick disease: a munne model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver. Biochim Biophys Acta 1127: 303-311
-
(1992)
Biochim Biophys Acta
, vol.1127
, pp. 303-311
-
-
Goldin, E.1
Roff, C.F.2
Miller, S.P.3
Rodriguez Lafrasse, C.4
Vanier, M.T.5
Brady, R.O.6
Pentchev, P.G.7
-
28
-
-
0030800371
-
Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice
-
Goodrum JF, Pentchev PG (1997) Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice. J Neurosci Res 19: 389-392
-
(1997)
J Neurosci Res
, vol.19
, pp. 389-392
-
-
Goodrum, J.F.1
Pentchev, P.G.2
-
29
-
-
0030814587
-
Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C
-
Greer WL, Riddell DC, Byers DM, Welch JP, Girouard GS, Sparrow SM, Gillan TL, Neumann PE (1997) 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 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
Gillan, T.L.7
Neumann, P.E.8
-
30
-
-
12644253850
-
Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation
-
Gu JZ, Carstea ED, Cummings C, Morriss JA, Loftus SK, Zhang D, Coleman KG, Cooney AM, Comly ME, Fandino L, Roff C, Tagle DA, Pavan WJ, Pentchev PG, Rosenfeld MA (1997) Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation. Proc Natl Acad Sci USA 94, 7378-7383
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 7378-7383
-
-
Gu, J.Z.1
Carstea, E.D.2
Cummings, C.3
Morriss, J.A.4
Loftus, S.K.5
Zhang, D.6
Coleman, K.G.7
Cooney, A.M.8
Comly, M.E.9
Fandino, L.10
Roff, C.11
Tagle, D.A.12
Pavan, W.J.13
Pentchev, P.G.14
Rosenfeld, M.A.15
-
31
-
-
0028123290
-
Nerve biopsy findings in Niemann-Pick type II (NPC)
-
Hahn AF, Gilbert JJ, Kwarciak C, Gillett J, Bolton CF, Rupar CA, Callahan JW (1994) Nerve biopsy findings in Niemann-Pick type II (NPC). Acta Neuropathol (Berl) 87: 149-154
-
(1994)
Acta Neuropathol (Berl)
, vol.87
, pp. 149-154
-
-
Hahn, A.F.1
Gilbert, J.J.2
Kwarciak, C.3
Gillett, J.4
Bolton, C.F.5
Rupar, C.A.6
Callahan, J.W.7
-
34
-
-
0002414430
-
Pathology of Niemann-Pick type C: Studies of murine mutants
-
Ikuta F (ed.). Elsevier Science Publishers: Amsterdam
-
Higashi Y, Pentchev PG, Murayama S, Suzuki K (1991) Pathology of Niemann-Pick type C: studies of murine mutants. In: Neuropathology in Brain Research, Ikuta F (ed.). pp. 85-102, Elsevier Science Publishers: Amsterdam
-
(1991)
Neuropathology in Brain Research
, pp. 85-102
-
-
Higashi, Y.1
Pentchev, P.G.2
Murayama, S.3
Suzuki, K.4
-
35
-
-
0026621090
-
A clinical staging classification for type C Niemann-Pick disease
-
Higgins JJ, Patterson MC, Dambrosia JM, Pikus AT, Pentchev PG, Sato S, Brady RO, Barton NW (1992) A clinical staging classification for type C Niemann-Pick disease. Neurology 42: 2286-2290
-
(1992)
Neurology
, vol.42
, pp. 2286-2290
-
-
Higgins, J.J.1
Patterson, M.C.2
Dambrosia, J.M.3
Pikus, A.T.4
Pentchev, P.G.5
Sato, S.6
Brady, R.O.7
Barton, N.W.8
-
36
-
-
15844381336
-
Human homolog of patched, a candidate gene for the basal cell nevus syndrome
-
Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bontfas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272: 1668-1671
-
(1996)
Science
, vol.272
, pp. 1668-1671
-
-
Johnson, R.L.1
Rothman, A.L.2
Xie, J.3
Goodrich, L.V.4
Bare, J.W.5
Bontfas, J.M.6
Quinn, A.G.7
Myers, R.M.8
Cox, D.R.9
Epstein, E.H.10
Scott, M.P.11
-
37
-
-
0027305869
-
Niemann-Pick disease type C: Diagnosis and outcome in children, with particular reference to liver disease
-
Kelly DA, Portmann B, Mowat AP, Sherlock S, Lake BD (1993) Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr 123: 242-247
-
(1993)
J Pediatr
, vol.123
, pp. 242-247
-
-
Kelly, D.A.1
Portmann, B.2
Mowat, A.P.3
Sherlock, S.4
Lake, B.D.5
-
38
-
-
0029807372
-
Pulmonary infiltration in Niemann-Pick disease type C
-
Kovesi TA, Lee J, Shuckett B, Clarke JTR, Callahan JW, Phillips MJ (1996) Pulmonary infiltration in Niemann-Pick disease type C. J Inher Metab Dis 19: 792-793
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 792-793
-
-
Kovesi, T.A.1
Lee, J.2
Shuckett, B.3
Clarke, J.T.R.4
Callahan, J.W.5
Phillips, M.J.6
-
39
-
-
0022869016
-
Type C Niemann-Pick disease. Abnormal metabolism of low-density lipoprotein in homozygous and heterozygous fibroblasts
-
Kruth HS, Comly ME, Butler JD, Vanier MT, Fink JK, Wenger DA, Patel S, Pentchev PG (1986) Type C Niemann-Pick disease. Abnormal metabolism of low-density lipoprotein in homozygous and heterozygous fibroblasts. J Biol Chem 261: 16769-16774
-
(1986)
J Biol Chem
, vol.261
, pp. 16769-16774
-
-
Kruth, H.S.1
Comly, M.E.2
Butler, J.D.3
Vanier, M.T.4
Fink, J.K.5
Wenger, D.A.6
Patel, S.7
Pentchev, P.G.8
-
40
-
-
0027223865
-
Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of human chromosome 18
-
Kurimasa A, Ohnc K, Oshimura M (1993) Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of human chromosome 18. Hum Genet 92: 157-162
-
(1993)
Hum Genet
, vol.92
, pp. 157-162
-
-
Kurimasa, A.1
Ohnc, K.2
Oshimura, M.3
-
41
-
-
0027417986
-
Type C Niemann-Pick disease in a boxer dog
-
Kuwamura M, Awakura T, Shimada A, Umemura T, Kagota K, Kawamura N, Naiki M (1993) Type C Niemann-Pick disease in a boxer dog. Acta Neuropathol (Berl) 85: 345-348
-
(1993)
Acta Neuropathol (Berl)
, vol.85
, pp. 345-348
-
-
Kuwamura, M.1
Awakura, T.2
Shimada, A.3
Umemura, T.4
Kagota, K.5
Kawamura, N.6
Naiki, M.7
-
42
-
-
0023608155
-
Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts
-
Liscum L, Faust JR (1987) Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts. J Biol Chem 262: 17002-17008
-
(1987)
J Biol Chem
, vol.262
, pp. 17002-17008
-
-
Liscum, L.1
Faust, J.R.2
-
43
-
-
0024539791
-
The intracellular transport of low-density lipoprotem-derived choiesterol is defective in Niemann-Pick type C fibroblasts
-
Liscum L, Ruggiero RM, Faust JR (1989) The intracellular transport of low-density lipoprotem-derived choiesterol is defective in Niemann-Pick type C fibroblasts. J Cell Biol 108: 1625-1636
-
(1989)
J Cell Biol
, vol.108
, pp. 1625-1636
-
-
Liscum, L.1
Ruggiero, R.M.2
Faust, J.R.3
-
44
-
-
0030768084
-
Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene
-
Loftus SK, Morris JA, Carstea ED, Gu JZ, Cummings C, Brown A, Ellison J, Ohno K, Rosenfeld M, Tagle DA, Pentchev PG, Pavan WJ (1997) Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 277: 232-235
-
(1997)
Science
, vol.277
, pp. 232-235
-
-
Loftus, S.K.1
Morris, J.A.2
Carstea, E.D.3
Gu, J.Z.4
Cummings, C.5
Brown, A.6
Ellison, J.7
Ohno, K.8
Rosenfeld, M.9
Tagle, D.A.10
Pentchev, P.G.11
Pavan, W.J.12
-
45
-
-
0030808773
-
Adult-onset Niemann-Pick type C disease: Clinical, biochemical and genetic study
-
in press
-
Lossos A, Schlesmger I, Okon E, Abransky O, Bargal R, Vanier MT, Zeigler M (1997) Adult-onset Niemann-Pick type C disease: clinical, biochemical and genetic study. Arch Neurol, in press
-
(1997)
Arch Neurol
-
-
Lossos, A.1
Schlesmger, I.2
Okon, E.3
Abransky, O.4
Bargal, R.5
Vanier, M.T.6
Zeigler, M.7
-
46
-
-
0028929548
-
Neurofibrillary tangles in Niemann-Pick disease type C
-
Love S, Bridges LR, Case CP (1995) Neurofibrillary tangles in Niemann-Pick disease type C. Brain 118: 119-129
-
(1995)
Brain
, vol.118
, pp. 119-129
-
-
Love, S.1
Bridges, L.R.2
Case, C.P.3
-
47
-
-
0025696354
-
Feline sphingolipidosis resembling Niemann-Pick disease type C
-
Lowenthal AC, Cummings JF, Wenger DA, Thrall MA, Wood PA, de Lahunta A (1990) Feline sphingolipidosis resembling Niemann-Pick disease type C. Acta Neuropathol (Bert) 81: 189-197
-
(1990)
Acta Neuropathol (Bert)
, vol.81
, pp. 189-197
-
-
Lowenthal, A.C.1
Cummings, J.F.2
Wenger, D.A.3
Thrall, M.A.4
Wood, P.A.5
De Lahunta, A.6
-
48
-
-
0030876712
-
GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline NiemannPick disease type C
-
March PA, Thrall MA, Brown DE, Mitchell, Lowenthal AC, Walkley SU (1997) GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline NiemannPick disease type C Acta Neuropathol (Berl) 94: 164-172
-
(1997)
Acta Neuropathol (Berl)
, vol.94
, pp. 164-172
-
-
March, P.A.1
Thrall, M.A.2
Brown, D.E.3
Mitchell4
Lowenthal, A.C.5
Walkley, S.U.6
-
49
-
-
0019977775
-
Lysosomal storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics
-
Morris MD, Bhuvaneswaran C, Shio HFS (1982) Lysosomal storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics. Am J Pathol 108: 140-149
-
(1982)
Am J Pathol
, vol.108
, pp. 140-149
-
-
Morris, M.D.1
Bhuvaneswaran, C.2
Shio, H.F.S.3
-
50
-
-
0029829903
-
Intracellular trafficking of cholesterol monitored with a cyclodextrin
-
Neufeld EB, Cooney AM, Pitha J, Dawidowicz EA, Dwyer NK, Pentchev PG, Blanchette-Mackie EJ (1996) Intracellular trafficking of cholesterol monitored with a cyclodextrin. J Biol Chem 271: 21604-21613
-
(1996)
J Biol Chem
, vol.271
, pp. 21604-21613
-
-
Neufeld, E.B.1
Cooney, A.M.2
Pitha, J.3
Dawidowicz, E.A.4
Dwyer, N.K.5
Pentchev, P.G.6
Blanchette-Mackie, E.J.7
-
51
-
-
0026778567
-
A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterol metabolism similar to those in type C Niemann-Pick disease
-
Ohno K, Nanba E, Mryawaki S, Sakiyama T, Kitagawa T, Takeshita K (1992) A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterol metabolism similar to those in type C Niemann-Pick disease. Cell Struct Funct 17: 229-235
-
(1992)
Cell Struct Funct
, vol.17
, pp. 229-235
-
-
Ohno, K.1
Nanba, E.2
Mryawaki, S.3
Sakiyama, T.4
Kitagawa, T.5
Takeshita, K.6
-
52
-
-
0027377426
-
Altered sensitivities to potential inhibitors of cholesterol biosynthesis in Niemann-Pick type C fibroblasts
-
Ohno K, Nanba E, Nakano T, Inui K, Okada S, Takeshita K (1993) Altered sensitivities to potential inhibitors of cholesterol biosynthesis in Niemann-Pick type C fibroblasts. Cell Struct Funct 18: 231-240
-
(1993)
Cell Struct Funct
, vol.18
, pp. 231-240
-
-
Ohno, K.1
Nanba, E.2
Nakano, T.3
Inui, K.4
Okada, S.5
Takeshita, K.6
-
53
-
-
0030879884
-
Newfound gene holds key to cell's cholesterol traffic
-
Pennisi E (1997) Newfound gene holds key to cell's cholesterol traffic. Science 277, 180-181
-
(1997)
Science
, vol.277
, pp. 180-181
-
-
Pennisi, E.1
-
56
-
-
0021346802
-
A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol
-
Pentchev PG, Boothe AD, Kruth HS, Weintroub H, Stivers J, Brady RO (1984) A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol. J Biol Chem 259: 5784-5791
-
(1984)
J Biol Chem
, vol.259
, pp. 5784-5791
-
-
Pentchev, P.G.1
Boothe, A.D.2
Kruth, H.S.3
Weintroub, H.4
Stivers, J.5
Brady, R.O.6
-
57
-
-
0027976761
-
The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol
-
Pentchev PG, Brady RO, Blanchette Mackie EJ, Vanier MT, Carstea ED, Parker CC, Goldin E, Roff CF (1994) The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. Biochim Biophys Acta 1225: 235-243
-
(1994)
Biochim Biophys Acta
, vol.1225
, pp. 235-243
-
-
Pentchev, P.G.1
Brady, R.O.2
Blanchette Mackie, E.J.3
Vanier, M.T.4
Carstea, E.D.5
Parker, C.C.6
Goldin, E.7
Roff, C.F.8
-
58
-
-
0023588096
-
Group C Niemann-Pick disease: Faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts
-
Pentchev PG, Comly ME, Kruth HS, Tokoro T, Butler J, Sokol J, Filling Katz M, Quirk JM, Marshall DC, Patel S, Vanier MT, Brady RO (1987) Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts. FASEB J 1: 40-45
-
(1987)
FASEB J
, vol.1
, pp. 40-45
-
-
Pentchev, P.G.1
Comly, M.E.2
Kruth, H.S.3
Tokoro, T.4
Butler, J.5
Sokol, J.6
Filling Katz, M.7
Quirk, J.M.8
Marshall, D.C.9
Patel, S.10
Vanier, M.T.11
Brady, R.O.12
-
59
-
-
0000721551
-
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients
-
Pentchev PG, Comly ME, Kruth HS, Vanier MT, Wenger DA, Patel S, Brady RO (1985) A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci USA 82 :8247-8251
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 8247-8251
-
-
Pentchev, P.G.1
Comly, M.E.2
Kruth, H.S.3
Vanier, M.T.4
Wenger, D.A.5
Patel, S.6
Brady, R.O.7
-
60
-
-
0022917296
-
Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low-density lipoprotein-derived cholesterol in cultured fibroblasts
-
Pentchev PG, Kruth HS, Comly ME, Butler JD, Vanier MT, Wenger DA, Patel S (1986) Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low-density lipoprotein-derived cholesterol in cultured fibroblasts. J Biol Chem 261: 16775-16780
-
(1986)
J Biol Chem
, vol.261
, pp. 16775-16780
-
-
Pentchev, P.G.1
Kruth, H.S.2
Comly, M.E.3
Butler, J.D.4
Vanier, M.T.5
Wenger, D.A.6
Patel, S.7
-
61
-
-
0000815355
-
Niemann-Pick disease type C: A cellular cholesterol lipidosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 85, McQraw-Hill: New York
-
Pentchev PG, Vanier MT, Suzuki K, Patterson M (1995) Niemann-Pick disease type C: a cellular cholesterol lipidosis. In- The Metabolic and Molecular Bases of Inherited Disease, Scriver CR, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 85, pp. 2625-39, McQraw-Hill: New York
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2625-2639
-
-
Pentchev, P.G.1
Vanier, M.T.2
Suzuki, K.3
Patterson, M.4
-
62
-
-
0025286334
-
Forme respiratoire mortelle de maladie de Niemann-Pick type C
-
Pin I, Pradines S, Pincemaille O, Frappat P, Brambilla E, Vanier MT, Bost M (1990) Forme respiratoire mortelle de maladie de Niemann-Pick type C. Arch Fr Pediatr 47: 373-375
-
(1990)
Arch fr Pediatr
, vol.47
, pp. 373-375
-
-
Pin, I.1
Pradines, S.2
Pincemaille, O.3
Frappat, P.4
Brambilla, E.5
Vanier, M.T.6
Bost, M.7
-
63
-
-
0028334261
-
Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other iysosomal storage disorders
-
Rodriguez-Lafrasse C, Rousson R, Pentchev PG, Louisot P, Vanier MT (1994) Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other iysosomal storage disorders. Biochim Biophys Acta 1226: 138-144
-
(1994)
Biochim Biophys Acta
, vol.1226
, pp. 138-144
-
-
Rodriguez-Lafrasse, C.1
Rousson, R.2
Pentchev, P.G.3
Louisot, P.4
Vanier, M.T.5
-
64
-
-
0030863593
-
Modulation of protein kinase C by endogenous sphingosine: Inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts
-
Rodriguez-Lafrasse C, Rousson R, Valla S, Antignac P, Louisot P, Vanier MT (1997) Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts. Blochem J 325: 787-791
-
(1997)
Blochem J
, vol.325
, pp. 787-791
-
-
Rodriguez-Lafrasse, C.1
Rousson, R.2
Valla, S.3
Antignac, P.4
Louisot, P.5
Vanier, M.T.6
-
65
-
-
0026550419
-
Niemann-Pick type-C disease: Deficient intracellular transport of exogenously derived cholesterol
-
Roff CF, Goldin E, Comly ME, Blanchette Mackie J, CooneyA, Brady RO, Pentchev PG (1992) Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol Am J Med Genet 42: 593-608
-
(1992)
Am J Med Genet
, vol.42
, pp. 593-608
-
-
Roff, C.F.1
Goldin, E.2
Comly, M.E.3
Blanchette Mackie, J.4
Cooney, A.5
Brady, R.O.6
Pentchev, P.G.7
-
66
-
-
0025832509
-
A molecular genetic linkage map of mouse chromosome 18, including spm, Grl-1, Fim-2/c-fms, and Mbp
-
Sakai Y, Miyawaki S, Shimidzu A, Ohno K, WT (1991) A molecular genetic linkage map of mouse chromosome 18, including spm, Grl-1, Fim-2/c-fms, and Mbp. Biochem Genet 29: 103-113
-
(1991)
Biochem Genet
, vol.29
, pp. 103-113
-
-
Sakai, Y.1
Miyawaki, S.2
Shimidzu, A.3
Ohno, K.4
T, W.5
-
67
-
-
0029161609
-
Changes in the levels of dolichol and dolichyl phosphate in a murine model of Niemann-Pick's type C disease
-
Schedin S, Pentchev PG, Brunk U, Dallner G (1995) Changes in the levels of dolichol and dolichyl phosphate in a murine model of Niemann-Pick's type C disease. J Neurochem 65: 670-676
-
(1995)
J Neurochem
, vol.65
, pp. 670-676
-
-
Schedin, S.1
Pentchev, P.G.2
Brunk, U.3
Dallner, G.4
-
68
-
-
0030937904
-
Peroxisomal impairment in Niemann-Pick type C disease
-
Schedin S, Sindelar PJ, Pentchev P, Brunk U, Dallner G (1997) Peroxisomal impairment in Niemann-Pick type C disease. J Biol Chem 272: 6245-6251
-
(1997)
J Biol Chem
, vol.272
, pp. 6245-6251
-
-
Schedin, S.1
Sindelar, P.J.2
Pentchev, P.3
Brunk, U.4
Dallner, G.5
-
69
-
-
0029741821
-
Niemann-Pick disease type C: From bench to bedside
-
Schiffmann R (1996) Niemann-Pick disease type C: from bench to bedside. JAMA 276: 561-564
-
(1996)
JAMA
, vol.276
, pp. 561-564
-
-
Schiffmann, R.1
-
70
-
-
0014083339
-
Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease
-
Schneider PB, Kennedy EP (1967) Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. J Lipid Res 8: 202-209
-
(1967)
J Lipid Res
, vol.8
, pp. 202-209
-
-
Schneider, P.B.1
Kennedy, E.P.2
-
71
-
-
6844248551
-
Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second rare genetic complementation group
-
in press
-
Schofer O, Mischo B, Püschel W, Harzer K, Vanier MT (1997) Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second rare genetic complementation group. Eur J Pediatr, in press
-
(1997)
Eur J Pediatr
-
-
Schofer, O.1
Mischo, B.2
Püschel, W.3
Harzer, K.4
Vanier, M.T.5
-
72
-
-
0001745899
-
Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies
-
Scriver CR, Beaudet AL, Sly WS, Valle D (es.), 7th Edition, Chapter 84, McGraw-Hill: New York
-
Schuchman EH, Desnick RJ (1995) Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: The Metabolic and Molecular Bases of Inherited Disease, Scriver CR, Beaudet AL, Sly WS, Valle D (es.), 7th Edition, Chapter 84, pp. 2601-2624, McGraw-Hill: New York
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2601-2624
-
-
Schuchman, E.H.1
Desnick, R.J.2
-
73
-
-
0027980638
-
Non-Azheimer neurofibrillary tangles show ß-amyloid-like immunoreactivity
-
Sherriff FE, Bridges LR, De Souza DSM (1994) Non-Azheimer neurofibrillary tangles show ß-amyloid-like immunoreactivity. Neuroreport 5: 1897-1900
-
(1994)
Neuroreport
, vol.5
, pp. 1897-1900
-
-
Sherriff, F.E.1
Bridges, L.R.2
De Souza, D.S.M.3
-
74
-
-
0019948159
-
Lysosomal lipid storage disorder in NCTR-BALB/c mice. II. Morphologic and cytochemical studies
-
Shio H, Fowler S, Bhuvaneswaran C, Morris MD (1982) Lysosomal lipid storage disorder in NCTR-BALB/c mice. II. Morphologic and cytochemical studies. Am J Pathol 108: 150-159
-
(1982)
Am J Pathol
, vol.108
, pp. 150-159
-
-
Shio, H.1
Fowler, S.2
Bhuvaneswaran, C.3
Morris, M.D.4
-
75
-
-
0028785286
-
Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C
-
Shulman LM, David NJ, Weiner WJ (1995) Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. Neurology 45: 1739-1743
-
(1995)
Neurology
, vol.45
, pp. 1739-1743
-
-
Shulman, L.M.1
David, N.J.2
Weiner, W.J.3
-
76
-
-
0027665740
-
Regulation of low density lipoprotein receptor and 3-hydroxy-3-methyl-glutaryl-CoA reductase activities are differentially affected in Niemann-Pick type C and type D fibroblasts
-
Sidhu HS, Rastogi SA, Byers DM, Guernsey DL, Cook HW, Palmer FB, Spence MW (1993) Regulation of low density lipoprotein receptor and 3-hydroxy-3-methyl-glutaryl-CoA reductase activities are differentially affected in Niemann-Pick type C and type D fibroblasts. Biochem Cell Biol 71: 467-474
-
(1993)
Biochem Cell Biol
, vol.71
, pp. 467-474
-
-
Sidhu, H.S.1
Rastogi, S.A.2
Byers, D.M.3
Guernsey, D.L.4
Cook, H.W.5
Palmer, F.B.6
Spence, M.W.7
-
77
-
-
0014669590
-
Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease
-
Sloan HR, Uhlendorf BW, Kanfer JN, Brady RO, Fredrickson DS (1969) Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. Biochem Biophys Res Commun 34: 582-588
-
(1969)
Biochem Biophys Res Commun
, vol.34
, pp. 582-588
-
-
Sloan, H.R.1
Uhlendorf, B.W.2
Kanfer, J.N.3
Brady, R.O.4
Fredrickson, D.S.5
-
78
-
-
0023850575
-
Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low-density lipoprotein cholesterol
-
Sokol J, Blanchette Mackie J, Kruth HS, Dwyer NK, Amende LM, Butler JD, Robinson E, Patel S, Brady RO, Comly ME, Vanier MT, Pentchev PG (1988) Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low-density lipoprotein cholesterol. J Biol Chem 263: 3411-3417
-
(1988)
J Biol Chem
, vol.263
, pp. 3411-3417
-
-
Sokol, J.1
Blanchette Mackie, J.2
Kruth, H.S.3
Dwyer, N.K.4
Amende, L.M.5
Butler, J.D.6
Robinson, E.7
Patel, S.8
Brady, R.O.9
Comly, M.E.10
Vanier, M.T.11
Pentchev, P.G.12
-
79
-
-
0029845517
-
Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification
-
Steinberg SJ, Mondal D, Fensom AH (1996) Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification. J Inher Metab Dis 19: 769-774
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 769-774
-
-
Steinberg, S.J.1
Mondal, D.2
Fensom, A.H.3
-
80
-
-
0028330236
-
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group
-
Steinberg SJ, Ward CP, Fensom AH (1994) Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J Med Genet 31: 317-320
-
(1994)
J Med Genet
, vol.31
, pp. 317-320
-
-
Steinberg, S.J.1
Ward, C.P.2
Fensom, A.H.3
-
82
-
-
0028922151
-
Neurofibrillary tangles in Nemann-Pick disease type C
-
Suzuki K, Parker CC, Pentchev PG, Katz D, Ghetti B, D'Agostino AN, Carstea ED (1995) Neurofibrillary tangles in Nemann-Pick disease type C. Acta Neuropathol (Berl) 89: 227-238
-
(1995)
Acta Neuropathol (Berl)
, vol.89
, pp. 227-238
-
-
Suzuki, K.1
Parker, C.C.2
Pentchev, P.G.3
Katz, D.4
Ghetti, B.5
D'Agostino, A.N.6
Carstea, E.D.7
-
83
-
-
0023940276
-
Cerebellar involvement in murine sphingomyelinosis: A new model of Niemann-Pick disease
-
Tanaka J, Nakamura H, Miyawaki S (1988) Cerebellar involvement in murine sphingomyelinosis: a new model of Niemann-Pick disease. J Neuropathol Exp Neurol 47: 291-300
-
(1988)
J Neuropathol Exp Neurol
, vol.47
, pp. 291-300
-
-
Tanaka, J.1
Nakamura, H.2
Miyawaki, S.3
-
84
-
-
0024474453
-
Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media
-
Thomas GH, Tuck Muller CM, Miller CS, Reynolds LW (1989) Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media. J Inher Metab Dis 12: 139-151
-
(1989)
J Inher Metab Dis
, vol.12
, pp. 139-151
-
-
Thomas, G.H.1
Tuck Muller, C.M.2
Miller, C.S.3
Reynolds, L.W.4
-
85
-
-
0025929805
-
Impaired cholesterol esterification in Niemann-Pick disease model mouse
-
Tokoro T, Yamamoto T, Okuno A, Suzuki H, Miyawaki S, Maekawa K, Eto Y (1991) Impaired cholesterol esterification in Niemann-Pick disease model mouse (in Japanese). No To Hattasu 23: 98-100
-
(1991)
No to Hattasu
, vol.23
, pp. 98-100
-
-
Tokoro, T.1
Yamamoto, T.2
Okuno, A.3
Suzuki, H.4
Miyawaki, S.5
Maekawa, K.6
Eto, Y.7
-
86
-
-
0028246596
-
Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature
-
van de Vlasakker CJ, Gabreels FJ, Wijburg HC, Wevers RA (1994) Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature. Clin Neurol Neurosurg 96: 119-123
-
(1994)
Clin Neurol Neurosurg
, vol.96
, pp. 119-123
-
-
Van de Vlasakker, C.J.1
Gabreels, F.J.2
Wijburg, H.C.3
Wevers, R.A.4
-
87
-
-
0029655528
-
Genetic heterogeneity in NiemannPick C disease: A study using somatic cell hybridization and linkage analysis
-
Vanier MT, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea ED (1996) Genetic heterogeneity in NiemannPick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet 58: 118-125
-
(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
-
89
-
-
0026409287
-
Type C Niemann-Pick disease: Biochemical aspects and phenotypic heterogeneity
-
Vanier MT, Rodriguez-Lafrasse C, Rousson R, Duthel S, Harzer K, Pentchev PG, Revol A, Louisot P (1991) Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity. Dev Neurosci 13: 307-314
-
(1991)
Dev Neurosci
, vol.13
, pp. 307-314
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Duthel, S.4
Harzer, K.5
Pentchev, P.G.6
Revol, A.7
Louisot, P.8
-
90
-
-
0025777970
-
Type C Niemann-Pick disease: Spectrum of phenotypic variation in disruption of intracellular LDL-denved cholesterol processing
-
Vanier MT, Rodriguez-Lafrasse C, Rousson R, Gazzah N, Juge MC, Pentchev PG, Revol A, Louisot P (1991) Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-denved cholesterol processing. Biochim Biophys Acta 1096: 328-337
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 328-337
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Gazzah, N.4
Juge, M.C.5
Pentchev, P.G.6
Revol, A.7
Louisot, P.8
-
91
-
-
0026736134
-
Prenatal diagnosis of Niemann-Pick type C disease: Current strategy from an experience of 37 pregnancies at risk
-
Vanier MT, Rodriguez-Lafrasse C, Rousson R, Mandon G, Boué J, Choiset A, Peyrat MF, Dumontel C, Juge MC, Pentchev PG, Revol A, Louisot P (1992) Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk. Am J Hum Genet 51: 111-122
-
(1992)
Am J Hum Genet
, vol.51
, pp. 111-122
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Mandon, G.4
Boué, J.5
Choiset, A.6
Peyrat, M.F.7
Dumontel, C.8
Juge, M.C.9
Pentchev, P.G.10
Revol, A.11
Louisot, P.12
-
92
-
-
0000842144
-
Niemann-Pick diseases
-
Vinken PJ, Bruyn GW (eds.). Revised Series Elsevier Science Publishers: Amsterdam
-
Vanier MT, Suzuki K (1996) Niemann-Pick diseases. In: Handbook of Clinical Neurology. Neurodystrophies and Neurolipidoses, Vinken PJ, Bruyn GW (eds.). Revised Series Volume 22, pp. 133-162, Elsevier Science Publishers: Amsterdam
-
(1996)
Handbook of Clinical Neurology. Neurodystrophies and Neurolipidoses
, vol.22
, pp. 133-162
-
-
Vanier, M.T.1
Suzuki, K.2
-
93
-
-
0023879638
-
Niemann-Pick disease group C: Clinical variability and diagnosis based on defective cholesterol estenfication. A collaborative study on 70 patients
-
Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pentchev PG (1988) Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol estenfication. A collaborative study on 70 patients. Clin Genet 33: 331-348
-
(1988)
Clin Genet
, vol.33
, pp. 331-348
-
-
Vanier, M.T.1
Wenger, D.A.2
Comly, M.E.3
Rousson, R.4
Brady, R.O.5
Pentchev, P.G.6
-
94
-
-
0023754882
-
Pathobiology of neuronal storage disease
-
Walkley SU (1988) Pathobiology of neuronal storage disease. Annu Rev Neurobiol 29: 191-244
-
(1988)
Annu Rev Neurobiol
, vol.29
, pp. 191-244
-
-
Walkley, S.U.1
-
95
-
-
0028239334
-
The attenuated elevation of cytoplasmic calcium concentration following the uptake of low-density lipoprotein in type C Niemann-Pick fibroblasts
-
Yamamoto T, Tokoro T, Eto Y (1994) The attenuated elevation of cytoplasmic calcium concentration following the uptake of low-density lipoprotein in type C Niemann-Pick fibroblasts. Biochem Biophys Res Commun 198: 438-444
-
(1994)
Biochem Biophys Res Commun
, vol.198
, pp. 438-444
-
-
Yamamoto, T.1
Tokoro, T.2
Eto, Y.3
-
96
-
-
21444443283
-
Accumulation of GM2 ganglioside in Niemann-Pick disease type C fibroblasts
-
Yano T, Taniguchi M, Akaboshi S, Vanier MT, Tai T, Sakuraba H, Ohno K (1996) Accumulation of GM2 ganglioside in Niemann-Pick disease type C fibroblasts. Proc Japan Acad (B) 72: 214-219
-
(1996)
Proc Japan Acad (B)
, vol.72
, pp. 214-219
-
-
Yano, T.1
Taniguchi, M.2
Akaboshi, S.3
Vanier, M.T.4
Tai, T.5
Sakuraba, H.6
Ohno, K.7
|