-
1
-
-
0000831301
-
Niemann-Pick disease type C: A lipid trafficking disorder
-
C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Childs K.W. Kinzler B. Vogelstein eighth ed. Mc Graw Hill New York
-
M.C. Patterson, M.T. Vanier, K. Suzuki, J.A. Morris, E.D. Carstea, E.B. Neufeld, E.J. Blanchette-Mackie, and P.G. Pentchev Niemann-Pick disease type C: a lipid trafficking disorder C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Childs K.W. Kinzler B. Vogelstein The Metabolic and Molecular Bases of Inherited Disease eighth ed. 2001 Mc Graw Hill New York 3611 3634
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3611-3634
-
-
Patterson, M.C.1
Vanier, M.T.2
Suzuki, K.3
Morris, J.A.4
Carstea, E.D.5
Neufeld, E.B.6
Blanchette-Mackie, E.J.7
Pentchev, P.G.8
-
3
-
-
0031983861
-
Recent advances in elucidating Niemann-Pick C disease
-
M.T. Vanier, and K. Suzuki Recent advances in elucidating Niemann-Pick C disease Brain Pathol. 8 1998 163 174
-
(1998)
Brain Pathol.
, vol.8
, pp. 163-174
-
-
Vanier, M.T.1
Suzuki, K.2
-
4
-
-
0141886877
-
Niemann-Pick disease type C
-
M.T. Vanier, and G. Millat Niemann-Pick disease type C Clin. Genet. 64 2003 269 281
-
(2003)
Clin. Genet.
, vol.64
, pp. 269-281
-
-
Vanier, M.T.1
Millat, G.2
-
5
-
-
0025777970
-
Type C Niemann-Pick disease: Spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
-
M.T. Vanier, C. Rodriguez-Lafrasse, R. Rousson, N. Gazzah, M.C. Juge, P.G. Pentchev, A. Revol, and P. Louisot Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing Biochim. Biophys. Acta 1096 1991 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
-
6
-
-
0028330236
-
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group
-
S.J. Steinberg, C.P. Ward, and A.H. Fensom Complementation studies in Niemann-Pick disease type C indicate the existence of a second group J. Med. Genet. 31 1994 317 320
-
(1994)
J. Med. Genet.
, vol.31
, pp. 317-320
-
-
Steinberg, S.J.1
Ward, C.P.2
Fensom, A.H.3
-
7
-
-
0029655528
-
Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
-
M.T. Vanier, S. Duthel, C. Rodriguez-Lafrasse, P. Pentchev, and E.D. Carstea Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis Am. J. Hum. Genet. 58 1996 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
-
8
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
E.D. Carstea, J.A. Morris, K.G. Coleman, S.K. Loftus, D. Zhang, C. Cummings, J. Gu, M. Rosenfeld, W.J. Pavan, D.B. Krizman, J. Nagle, M. Polymeropoulos, S.L. Sturley, Y.A. Ioannou, M.E. Higgins, M. Comly, A. Cooney, A. Brown, C.R. Kaneski, E.J. Blanchette-Mackie, N.K. Dwyer, E.B. Neufeld, T.Y. Chang, L. Liscum, J.F. Strauss, K. Ohno, M. Zeigler, R. Carmi, J. Sokol, D. Markie, R.R. O'Neill, O.P. van Diggelen, M. Elleder, M.C. Patterson, R.O. Brady, M.T. Vanier, P.G. Pentchev, and D.A. Tagle Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis Science 277 1997 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..
-
9
-
-
0034704245
-
Identification of HE1 as the second gene of Niemann-Pick C disease
-
S. Naureckiene, D.E. Sleat, H. Lackland, A. Fensom, M.T. Vanier, R. Wattiaux, M. Jadot, and P. Lobel Identification of HE1 as the second gene of Niemann-Pick C disease Science 290 2000 2298 2301
-
(2000)
Science
, vol.290
, pp. 2298-2301
-
-
Naureckiene, S.1
Sleat, D.E.2
Lackland, H.3
Fensom, A.4
Vanier, M.T.5
Wattiaux, R.6
Jadot, M.7
Lobel, P.8
-
10
-
-
0034755958
-
Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
-
G. Millat, K. Chikh, S. Naureckiene, D.E. Sleat, A.H. Fensom, K. Higaki, M. Elleder, P. Lobel, and M.T. Vanier Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group Am. J. Hum. Genet. 69 2001 1013 1021
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1013-1021
-
-
Millat, G.1
Chikh, K.2
Naureckiene, S.3
Sleat, D.E.4
Fensom, A.H.5
Higaki, K.6
Elleder, M.7
Lobel, P.8
Vanier, M.T.9
-
11
-
-
11144355005
-
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport
-
D.E. Sleat, J.A. Wiseman, M. El Banna, S.M. Price, L. Verot, M.M. Shen, G.S. Tint, M.T. Vanier, S.U. Walkley, and P. Lobel Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport Proc. Natl. Acad. Sci. USA 101 2004 5886 5891
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 5886-5891
-
-
Sleat, D.E.1
Wiseman, J.A.2
El Banna, M.3
Price, S.M.4
Verot, L.5
Shen, M.M.6
Tint, G.S.7
Vanier, M.T.8
Walkley, S.U.9
Lobel, P.10
-
12
-
-
0032887393
-
Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network
-
M.E. Higgins, J.P. Davies, F.W. Chen, and Y.A. Ioannou Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network Mol. Genet. Metab. 68 1999 1 13
-
(1999)
Mol. Genet. Metab.
, vol.68
, pp. 1-13
-
-
Higgins, M.E.1
Davies, J.P.2
Chen, F.W.3
Ioannou, Y.A.4
-
13
-
-
0033515560
-
The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
-
E.B. Neufeld, M. Wastney, S. Patel, S. Suresh, A.M. Cooney, N.K. Dwyer, C.F. Roff, K. Ohno, J.A. Morris, E.D. Carstea, J.P. Incardona, J.F. Strauss III, M.T. Vanier, M.C. Patterson, R.O. Brady, P.G. Pentchev, and E.J. Blanchette-Mackie The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo J. Biol. Chem. 274 1999 9627 9635
-
(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
-
14
-
-
0034637440
-
Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein
-
J.P. Davies, and Y.A. Ioannou Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein J. Biol. Chem. 275 2000 24367 24374
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 24367-24374
-
-
Davies, J.P.1
Ioannou, Y.A.2
-
15
-
-
0033618338
-
Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein
-
H. Watari, E.J. Blanchette-Mackie, N.K. Dwyer, M. Watari, E.B. Neufeld, S. Patel, P.G. Pentchev, and J.F. Strauss III Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein J. Biol. Chem. 274 1999 21861 21866
-
(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
-
16
-
-
0033358193
-
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain
-
W.L. Greer, M.J. Dobson, G.S. Girouard, D.M. Byers, D.C. Riddell, and P.E. Neumann Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain Am. J. Hum. Genet. 65 1999 1252 1260
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1252-1260
-
-
Greer, W.L.1
Dobson, M.J.2
Girouard, G.S.3
Byers, D.M.4
Riddell, D.C.5
Neumann, P.E.6
-
17
-
-
0034987028
-
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1
-
X. Sun, D.L. Marks, W.D. Park, C.L. Wheatley, V. Puri, J.F. O'Brien, D.L. Kraft, P.A. Lundquist, M.C. Patterson, R.E. Pagano, and K. Snow Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1 Am. J. Hum. Genet. 68 2001 1361 1372
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1361-1372
-
-
Sun, X.1
Marks, D.L.2
Park, W.D.3
Wheatley, C.L.4
Puri, V.5
O'Brien, J.F.6
Kraft, D.L.7
Lundquist, P.A.8
Patterson, M.C.9
Pagano, R.E.10
Snow, K.11
-
18
-
-
0034987798
-
Niemann-Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
-
G. Millat, C. Marçais, C. Tomasetto, K. Chikh, A.H. Fensom, K. Harzer, D.A. Wenger, K. Ohno, and M.T. Vanier Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop Am. J. Hum. Genet. 68 2001 1373 1385
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1373-1385
-
-
Millat, G.1
Marçais, C.2
Tomasetto, C.3
Chikh, K.4
Fensom, A.H.5
Harzer, K.6
Wenger, D.A.7
Ohno, K.8
Vanier, M.T.9
-
19
-
-
0033542422
-
A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol
-
N. Okamura, S. Kiuchi, M. Tamba, T. Kashima, S. Hiramoto, T. Baba, F. Dacheux, J.L. Dacheux, Y. Sugita, and Y.Z. Jin A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol Biochim. Biophys. Acta 1438 1999 377 387
-
(1999)
Biochim. Biophys. Acta
, vol.1438
, pp. 377-387
-
-
Okamura, N.1
Kiuchi, S.2
Tamba, M.3
Kashima, T.4
Hiramoto, S.5
Baba, T.6
Dacheux, F.7
Dacheux, J.L.8
Sugita, Y.9
Jin, Y.Z.10
-
20
-
-
0037418188
-
Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease
-
N. Friedland, H.L. Liou, P. Lobel, and A.M. Stock Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease Proc. Natl. Acad. Sci. USA 100 2003 2512 2517
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 2512-2517
-
-
Friedland, N.1
Liou, H.L.2
Lobel, P.3
Stock, A.M.4
-
21
-
-
0344838432
-
The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels
-
D.C. Ko, J. Binkley, A. Sidow, and M.P. Scott The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels Proc. Natl. Acad. Sci. USA 100 2003 2518 2525
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 2518-2525
-
-
Ko, D.C.1
Binkley, J.2
Sidow, A.3
Scott, M.P.4
-
22
-
-
0036895321
-
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2
-
H.H. Klünemann, M. Elleder, W.E. Kaminski, K. Snow, J.M. Peyser, J.F. O'Brien, D. Munoz, G. Schmitz, H.E. Klein, and W.W. Pendlebury Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2 Ann. Neurol. 52 2002 743 749
-
(2002)
Ann. Neurol.
, vol.52
, pp. 743-749
-
-
Klünemann, H.H.1
Elleder, M.2
Kaminski, W.E.3
Snow, K.4
Peyser, J.M.5
O'Brien, J.F.6
Munoz, D.7
Schmitz, G.8
Klein, H.E.9
Pendlebury, W.W.10
-
23
-
-
0141753992
-
Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1
-
W.D. Park, J.F. O'Brien, P.A. Lundquist, D.L. Kraft, C.W. Vockley, P.S. Karnes, M.C. Patterson, and K. Snow Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1 Hum. Mutat. 22 2003 313 325
-
(2003)
Hum. Mutat.
, vol.22
, pp. 313-325
-
-
Park, W.D.1
O'Brien, J.F.2
Lundquist, P.A.3
Kraft, D.L.4
Vockley, C.W.5
Karnes, P.S.6
Patterson, M.C.7
Snow, K.8
-
24
-
-
0026201987
-
Molecular recognition and targeting of lysosomal proteins
-
K. Von Figura Molecular recognition and targeting of lysosomal proteins Curr. Opin. Cell Biol. 3 2004 642 646
-
(2004)
Curr. Opin. Cell Biol.
, vol.3
, pp. 642-646
-
-
Von Figura, K.1
-
25
-
-
1642496888
-
Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking
-
M. Zhang, M. Sun, N.K. Dwyer, M.E. Comly, S.C. Patel, R. Sundaram, J.A. Hanover, and E.J. Blanchette-Mackie Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking Acta Paediatr. Suppl. 92 2003 63 73
-
(2003)
Acta Paediatr. Suppl.
, vol.92
, pp. 63-73
-
-
Zhang, M.1
Sun, M.2
Dwyer, N.K.3
Comly, M.E.4
Patel, S.C.5
Sundaram, R.6
Hanover, J.A.7
Blanchette-Mackie, E.J.8
-
26
-
-
0037319111
-
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease
-
T.S. Blom, M.D. Linder, K. Snow, H. Pihko, M.W. Hess, E. Jokitalo, V. Veckman, A.C. Syvanen, and E. Ikonen Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease Hum. Mol. Genet. 12 2003 257 272
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 257-272
-
-
Blom, T.S.1
Linder, M.D.2
Snow, K.3
Pihko, H.4
Hess, M.W.5
Jokitalo, E.6
Veckman, V.7
Syvanen, A.C.8
Ikonen, E.9
-
27
-
-
0029916898
-
The amino acid at the X position of an Asn-X-Ser sequon is an important determinant of N-linked core-glycosylation efficiency
-
S.H. Shakin-Eshleman, S.L. Spitalnik, and L. Kasturi The amino acid at the X position of an Asn-X-Ser sequon is an important determinant of N-linked core-glycosylation efficiency J. Biol. Chem. 271 1996 6363 6366
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 6363-6366
-
-
Shakin-Eshleman, S.H.1
Spitalnik, S.L.2
Kasturi, L.3
-
28
-
-
0032510739
-
The amino acid following an Asn-X-Ser/Thr sequon is an important determinant of N-linked core glycosylation efficiency
-
J.L. Mellquist, L. Kasturi, S.L. Spitalnik, and S.H. Shakin-Eshleman The amino acid following an Asn-X-Ser/Thr sequon is an important determinant of N-linked core glycosylation efficiency Biochemistry 37 1998 6833 6837
-
(1998)
Biochemistry
, vol.37
, pp. 6833-6837
-
-
Mellquist, J.L.1
Kasturi, L.2
Spitalnik, S.L.3
Shakin-Eshleman, S.H.4
-
29
-
-
0031035738
-
Primary structure of EPV20, a secretory glycoprotein containing a previously uncharacterized type of domain
-
L.B. Larsen, P. Ravn, A. Boisen, L. Berglund, and T.E. Petersen Primary structure of EPV20, a secretory glycoprotein containing a previously uncharacterized type of domain Eur. J. Biochem. 243 1997 437 441
-
(1997)
Eur. J. Biochem.
, vol.243
, pp. 437-441
-
-
Larsen, L.B.1
Ravn, P.2
Boisen, A.3
Berglund, L.4
Petersen, T.E.5
-
30
-
-
0025367812
-
Sequence differences between glycosylated and non-glycosylated Asn-X-Thr/Ser acceptor sites: Implications for protein engineering
-
Y. Gavel, and G. von Heijne Sequence differences between glycosylated and non-glycosylated Asn-X-Thr/Ser acceptor sites: implications for protein engineering Protein Eng. 3 1990 433 442
-
(1990)
Protein Eng.
, vol.3
, pp. 433-442
-
-
Gavel, Y.1
Von Heijne, G.2
-
31
-
-
0027446596
-
Human lysosomal alpha-glucosidase: Functional characterization of the glycosylation sites
-
M.M. Hermans, H.A. Wisselaar, M.A. Kroos, B.A. Oostraf, and A.J. Reuser Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites Biochem. J. 289 Pt 3 1993 681 686
-
(1993)
Biochem. J.
, vol.289
, Issue.3
, pp. 681-686
-
-
Hermans, M.M.1
Wisselaar, H.A.2
Kroos, M.A.3
Oostraf, B.A.4
Reuser, A.J.5
|