-
6
-
-
0025777970
-
Type C Niemann-Pick disease: Spectrum of phenotypic variation in disruption of intracellular LDL-drerived cholesterol processing
-
(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
-
7
-
-
0027976761
-
The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol
-
(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
-
8
-
-
0023608155
-
Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts
-
(1987)
J Biol Chem
, vol.262
, pp. 17002-17008
-
-
Liscum, L.1
Faust, J.R.2
-
10
-
-
0023588096
-
Group C Niemann-Pick disease: Faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts
-
(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
-
13
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
(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.A.8
Pavan, W.J.9
Krizman, D.B.10
Nagle, J.11
Polymeropoulos, M.H.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
Tagle, D.A.25
more..
-
15
-
-
0032841387
-
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
-
(1999)
Hum Genet
, vol.105
, pp. 10-16
-
-
Yamamoto, T.1
Nanba, E.2
Ninomiya, H.3
Higaki, K.4
Taniguchi, M.5
Zhang, H.6
Akaboshi, S.7
Watanabe, Y.8
Takeshima, T.9
Inui, K.10
Okada, S.11
Tanaka, A.12
Sakuragawa, N.13
Millat, G.14
Vanier, M.T.15
Morris, J.A.16
Pentchev, P.G.17
Ohno, K.18
-
16
-
-
0033361755
-
Niemann-Pick C1 Disease: The I 1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1321-1329
-
-
Millat, G.1
Marcais, C.2
Rafi, M.A.3
Yamamoto, T.4
Morris, J.A.5
Pentchev, P.G.6
Ohno, K.7
Wenger, D.A.8
Vanier, M.T.9
-
18
-
-
0032231442
-
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097 → T transversion in NPC1
-
(1998)
Am J Hum Genet
, vol.63
, pp. 52-54
-
-
Greer, W.L.1
Riddell, D.C.2
Gillan, T.L.3
Girouard, G.S.4
Sparrow, S.M.5
Byers, D.M.6
Dobson, M.J.7
Neumann, P.E.8
-
20
-
-
0027512555
-
Linkage of Niemann-Pick disease type C to human chromosome 18
-
(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'Neil, 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
-
28
-
-
0030941803
-
The SREBP pathway: Regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor
-
(1997)
Cell
, vol.89
, pp. 331-340
-
-
Brown, M.S.1
Goldstein, J.L.2
-
29
-
-
0033515560
-
The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
-
(1999)
J Biol Chem
, vol.274
, pp. 9627-9635
-
-
Neufeld, E.B.1
Wastney, M.2
Patel, S.3
Suresh, S.4
Cooney, A.M.5
Dwyer, N.K.6
Roff, C.F.7
Ohno, K.8
Morris, J.A.9
Carstea, E.D.10
Incardona, J.P.11
Strauss III, J.F.12
Vanier, M.T.13
Patterson, M.C.14
Brady, R.O.15
Pentchev, P.G.16
Blanchette-Mackie, E.J.17
-
30
-
-
1642454485
-
Localization of Niemann-Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann-Pick type C disease
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 1657-1662
-
-
Patel, S.C.1
Suresh, S.2
Kumar, U.3
Hu, C.Y.4
Cooney, A.5
Blanchette-Mackie, E.J.6
Neufeld, E.B.7
Patel, R.C.8
Brady, R.O.9
Patel, Y.C.10
Pentchev, P.G.11
Ong, W.Y.12
-
32
-
-
0033145510
-
Late endosomal membranes rich in lysobiphosphatidic acid regulate cholesterol transport
-
(1999)
Nat Cell Biol
, vol.1
, pp. 113-118
-
-
Kobayashi, T.1
Beuchat, M.-H.2
Lindsay, M.3
Frias, S.4
Palmiter, R.D.5
Sakuraba, H.6
Patton, R.G.7
Gruenberg, J.8
-
33
-
-
85031597889
-
Topological analysis of NPC1 reveals that the orientation of the putative sterol sensing domain is identical to that of HMG CoA and SCAP
-
in press
-
J Biol Chem
-
-
Davies, J.P.1
Ioannou, Y.A.2
-
35
-
-
0032837679
-
The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2107-2115
-
-
Petris, M.J.1
Mercer, J.F.2
-
37
-
-
0011102935
-
The tumour suppressor gene patched encodes a candidate receptor for sonic hedgehog
-
(1996)
Nature
, vol.384
, pp. 129-133
-
-
Stone, D.M.1
Hynes, M.2
Armanini, M.3
Swanson, T.A.4
Gu, Q.5
Johnson, R.L.6
Scott, M.P.7
Pennica, D.8
Goddard, A.9
Phillips, H.10
Noll, M.11
Hooper, J.E.12
De Sauvage, F.13
Rosenthal, A.14
-
46
-
-
0033514298
-
Niemann-Pick C1 protein: Obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 805-810
-
-
Watari, H.1
Blanchette-Mackie, E.J.2
Dwyer, N.K.3
Glick, J.M.4
Patel, S.5
Neufeld, E.B.6
Brady, R.O.7
Pentchev, P.G.8
Strauss III, J.F.9
-
47
-
-
0033618338
-
Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein
-
(1999)
J Biol Chem
, vol.274
, pp. 21861-21866
-
-
Watari, H.1
Blanchette-Mackie, E.J.2
Dwyer, N.K.3
Watari, M.4
Neufeld, E.B.5
Patel, S.6
Pentchev, P.G.7
Strauss III, J.F.8
|