-
1
-
-
77953019480
-
Niemann-Pick disease type C
-
Vanier, M. T. (2010) Niemann-Pick disease type C. Orphanet J. Rare Dis. 5, 16.
-
(2010)
Orphanet J. Rare Dis.
, vol.5
, pp. 16
-
-
Vanier, M.T.1
-
2
-
-
84862532953
-
Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update
-
Patterson, M. C., Hendriksz, C. J., Walterfang, M., Sedel, F., Vanier, M. T., and Wijburg, F. (2012) Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update. Mol. Genet. Metab. 106, 330-344.
-
(2012)
Mol. Genet. Metab.
, vol.106
, pp. 330-344
-
-
Patterson, M.C.1
Hendriksz, C.J.2
Walterfang, M.3
Sedel, F.4
Vanier, M.T.5
Wijburg, F.6
-
3
-
-
1542719049
-
The niemann-pick disease genes; regulators of cellular cholesterol homeostasis
-
Ory, D. S. (2004) The niemann-pick disease genes; regulators of cellular cholesterol homeostasis. Trends Cardiovasc. Med. 14, 66-72.
-
(2004)
Trends Cardiovasc. Med.
, vol.14
, pp. 66-72
-
-
Ory, D.S.1
-
4
-
-
40549104734
-
NPC-db, a Niemann-Pick type C disease gene variation database
-
Runz, H., Dolle, D., Schlitter, A. M., and Zschocke, J. (2008) NPC-db, a Niemann-Pick type C disease gene variation database. Hum. Mutat. 29, 345-350.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 345-350
-
-
Runz, H.1
Dolle, D.2
Schlitter, A.M.3
Zschocke, J.4
-
5
-
-
43749115379
-
Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding
-
Gelsthorpe, M. E., Baumann, N., Millard, E., Gale, S. E., Langmade, S. J., Schaffer, J. E., and Ory, D. S. (2008) Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding. J. Biol. Chem. 283, 8229-8236.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 8229-8236
-
-
Gelsthorpe, M.E.1
Baumann, N.2
Millard, E.3
Gale, S.E.4
Langmade, S.J.5
Schaffer, J.E.6
Ory, D.S.7
-
6
-
-
37249014081
-
The biological impact of mass-spectrometry-based proteomics
-
Cravatt, B. F., Simon, G. M., and Yates, J. R. 3rd (2007) The biological impact of mass-spectrometry-based proteomics. Nature 450, 991-1000.
-
(2007)
Nature
, vol.450
, pp. 991-1000
-
-
Cravatt, B.F.1
Simon, G.M.2
Yates, J.R.3
-
7
-
-
42349105213
-
Relative quantification of proteins in human cerebrospinal fluids by MS/MS using 6-plex isobaric tags
-
Dayon, L., Hainard, A., Licker, V., Turck, N., Kuhn, K., Hochstrasser, D. F., Burkhard, P. R., and Sanchez, J. C. (2008) Relative quantification of proteins in human cerebrospinal fluids by MS/MS using 6-plex isobaric tags. Anal. Chem. 80, 2921-2931.
-
(2008)
Anal. Chem.
, vol.80
, pp. 2921-2931
-
-
Dayon, L.1
Hainard, A.2
Licker, V.3
Turck, N.4
Kuhn, K.5
Hochstrasser, D.F.6
Burkhard, P.R.7
Sanchez, J.C.8
-
8
-
-
0035106351
-
Large-scale analysis of the yeast proteome by multidimensional protein identification technology
-
Washburn, M. P., Wolters, D., and Yates, J. R. 3rd (2001) Large-scale analysis of the yeast proteome by multidimensional protein identification technology. Nat. Biotechnol. 19, 242-247.
-
(2001)
Nat. Biotechnol.
, vol.19
, pp. 242-247
-
-
Washburn, M.P.1
Wolters, D.2
Yates, J.R.3
-
9
-
-
70349190528
-
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression
-
Davidson, C. D., Ali, N. F., Micsenyi, M. C., Stephney, G., Renault, S., Dobrenis, K., Ory, D. S., Vanier, M. T., and Walkley, S. U. (2009) Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One 4, e6951.
-
(2009)
PLoS One
, vol.4
, pp. e6951
-
-
Davidson, C.D.1
Ali, N.F.2
Micsenyi, M.C.3
Stephney, G.4
Renault, S.5
Dobrenis, K.6
Ory, D.S.7
Vanier, M.T.8
Walkley, S.U.9
-
10
-
-
84886303330
-
Treatment of Niemann-pick type C disease by histone deacetylase inhibitors
-
Helquist, P., Maxfield, F. R., Wiech, N. L., and Wiest, O. (2013) Treatment of Niemann-pick type C disease by histone deacetylase inhibitors. Neurotherapeutics 10, 688-697.
-
(2013)
Neurotherapeutics
, vol.10
, pp. 688-697
-
-
Helquist, P.1
Maxfield, F.R.2
Wiech, N.L.3
Wiest, O.4
-
11
-
-
84875448226
-
Discovery of oxysterol-derived pharmacological chaperones for NPC1: Implication for the existence of second sterol-binding site
-
Ohgane, K., Karaki, F., Dodo, K., and Hashimoto, Y. (2013) Discovery of oxysterol-derived pharmacological chaperones for NPC1: Implication for the existence of second sterol-binding site. Chem. Biol. 20, 391-402.
-
(2013)
Chem. Biol.
, vol.20
, pp. 391-402
-
-
Ohgane, K.1
Karaki, F.2
Dodo, K.3
Hashimoto, Y.4
-
12
-
-
0036393898
-
DTASelect and contrast: Tools for assembling and comparing protein identifications from shotgun proteomics
-
Tabb, D. L., McDonald, W. H., and Yates, J. R. 3rd (2002) DTASelect and Contrast: Tools for assembling and comparing protein identifications from shotgun proteomics. J. Proteome Res. 1, 21-26.
-
(2002)
J. Proteome Res.
, vol.1
, pp. 21-26
-
-
Tabb, D.L.1
McDonald, W.H.2
Yates, J.R.3
-
13
-
-
84905020958
-
Census 2: Isobaric labeling data analysis
-
Park, S. K., Aslanian, A., McClatchy, D. B., Han, X., Shah, H., Singh, M., Rauniyar, N., Moresco, J. J., Pinto, A. F., Diedrich, J. K., Delahunty, C., and Yates, J. R. 3rd (2014) Census 2: Isobaric labeling data analysis. Bioinformatics 30, 2208-2209.
-
(2014)
Bioinformatics
, vol.30
, pp. 2208-2209
-
-
Park, S.K.1
Aslanian, A.2
McClatchy, D.B.3
Han, X.4
Shah, H.5
Singh, M.6
Rauniyar, N.7
Moresco, J.J.8
Pinto, A.F.9
Diedrich, J.K.10
Delahunty, C.11
Yates, J.R.12
-
14
-
-
0034069495
-
Gene ontology: Tool for the unification of biology
-
The Gene Ontology Consortium
-
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., Harris, M. A., Hill, D. P., Issel-Tarver, L., Kasarskis, A., Lewis, S., Matese, J. C., Richardson, J. E., Ringwald, M., Rubin, G. M., and Sherlock, G. (2000) Gene ontology: Tool for the unification of biology. The Gene Ontology Consortium. Nat. Genet. 25, 25-29.
-
(2000)
Nat. Genet.
, vol.25
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
Davis, A.P.7
Dolinski, K.8
Dwight, S.S.9
Eppig, J.T.10
Harris, M.A.11
Hill, D.P.12
Issel-Tarver, L.13
Kasarskis, A.14
Lewis, S.15
Matese, J.C.16
Richardson, J.E.17
Ringwald, M.18
Rubin, G.M.19
Sherlock, G.20
more..
-
15
-
-
47049099111
-
Ontologizer 2.0-A multifunctional tool for GO term enrichment analysis and data exploration
-
Bauer, S., Grossmann, S., Vingron, M., and Robinson, P. N. (2008) Ontologizer 2.0-a multifunctional tool for GO term enrichment analysis and data exploration. Bioinformatics 24, 1650-1651.
-
(2008)
Bioinformatics
, vol.24
, pp. 1650-1651
-
-
Bauer, S.1
Grossmann, S.2
Vingron, M.3
Robinson, P.N.4
-
16
-
-
0023608155
-
Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts
-
Liscum, L., and Faust, J. R. (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
-
17
-
-
79953312249
-
Niemann-Pick type C disease: Characterizing lipid levels in patients with variant lysosomal cholesterol storage
-
Tangemo, C., Weber, D., Theiss, S., Mengel, E., and Runz, H. (2011) Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. J. Lipid Res. 52, 813-825.
-
(2011)
J. Lipid Res.
, vol.52
, pp. 813-825
-
-
Tangemo, C.1
Weber, D.2
Theiss, S.3
Mengel, E.4
Runz, H.5
-
18
-
-
77955462279
-
Addressing accuracy and precision issues in iTRAQ quantitation
-
Karp, N. A., Huber, W., Sadowski, P. G., Charles, P. D., Hester, S. V., and Lilley, K. S. (2010) Addressing accuracy and precision issues in iTRAQ quantitation. Mol. Cell. Proteomics 9, 1885-1897.
-
(2010)
Mol. Cell. Proteomics
, vol.9
, pp. 1885-1897
-
-
Karp, N.A.1
Huber, W.2
Sadowski, P.G.3
Charles, P.D.4
Hester, S.V.5
Lilley, K.S.6
-
19
-
-
84874482064
-
Oxidative stress: A pathogenic mechanism for Niemann-Pick type C disease
-
2012
-
Vazquez, M. C., Balboa, E., Alvarez, A. R., and Zanlungo, S. Oxidative stress: A pathogenic mechanism for Niemann-Pick type C disease. Oxid. Med. Cell Longev. 2012:205713, 2012.
-
(2012)
Oxid. Med. Cell Longev
, pp. 205713
-
-
Vazquez, M.C.1
Balboa, E.2
Alvarez, A.R.3
Zanlungo, S.4
-
20
-
-
77957226432
-
Oxidative stress in Niemann-Pick disease, type C
-
Fu, R., Yanjanin, N. M., Bianconi, S., Pavan, W. J., and Porter, F. D. (2010) Oxidative stress in Niemann-Pick disease, type C. Mol. Genet. Metab. 101, 214-218.
-
(2010)
Mol. Genet. Metab.
, vol.101
, pp. 214-218
-
-
Fu, R.1
Yanjanin, N.M.2
Bianconi, S.3
Pavan, W.J.4
Porter, F.D.5
-
21
-
-
84902186984
-
Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in niemann-pick type c1-deficient cells
-
Kennedy, B. E., Madreiter, C. T., Vishnu, N., Malli, R., Graier, W. F., and Karten, B. (2014) Adaptations of Energy Metabolism Associated with Increased Levels of Mitochondrial Cholesterol in Niemann-Pick Type C1-deficient Cells. J. Biol. Chem. 289, 16278-16289.
-
(2014)
J. Biol. Chem.
, vol.289
, pp. 16278-16289
-
-
Kennedy, B.E.1
Madreiter, C.T.2
Vishnu, N.3
Malli, R.4
Graier, W.F.5
Karten, B.6
-
22
-
-
84893192165
-
Pre-symptomatic activation of antioxidant responses and alterations in glucose and pyruvate metabolism in Niemann-Pick Type C1-deficient murine brain
-
Kennedy, B. E., LeBlanc, V. G., Mailman, T. M., Fice, D., Burton, I., Karakach, T. K., and Karten, B. (2013) Pre-symptomatic activation of antioxidant responses and alterations in glucose and pyruvate metabolism in Niemann-Pick Type C1-deficient murine brain. PLoS One 8, e82685.
-
(2013)
PLoS One
, vol.8
, pp. e82685
-
-
Kennedy, B.E.1
LeBlanc, V.G.2
Mailman, T.M.3
Fice, D.4
Burton, I.5
Karakach, T.K.6
Karten, B.7
-
23
-
-
77951087930
-
MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein
-
Charman, M., Kennedy, B. E., Osborne, N., and Karten, B. (2010) MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein. J. Lipid Res. 51, 1023-1034.
-
(2010)
J. Lipid Res.
, vol.51
, pp. 1023-1034
-
-
Charman, M.1
Kennedy, B.E.2
Osborne, N.3
Karten, B.4
-
24
-
-
0029583435
-
Mitochondrial specificity of the early steps in steroidogenesis
-
Miller, W. L. (1995) Mitochondrial specificity of the early steps in steroidogenesis. J. Steroid Biochem. Mol. Biol. 55, 607-616.
-
(1995)
J. Steroid Biochem. Mol. Biol.
, vol.55
, pp. 607-616
-
-
Miller, W.L.1
-
25
-
-
84892774859
-
HLGDB: A database of human lysosomal genes and their regulation
-
bat024
-
Brozzi, A., Urbanelli, L., Germain, P. L., Magini, A., and Emiliani, C. (2013) hLGDB: A database of human lysosomal genes and their regulation. Database 2013, bat024.
-
(2013)
Database 2013
-
-
Brozzi, A.1
Urbanelli, L.2
Germain, P.L.3
Magini, A.4
Emiliani, C.5
-
26
-
-
79960292775
-
TorsinA participates in endoplasmic reticulum-associated degradation
-
Nery, F. C., Armata, I. A., Farley, J. E., Cho, J. A., Yaqub, U., Chen, P., da Hora, C. C., Wang, Q., Tagaya, M., Klein, C., Tannous, B., Caldwell, K. A., Caldwell, G. A., Lencer, W. I., Ye, Y., and Breakefield, X. O. (2011) TorsinA participates in endoplasmic reticulum-associated degradation. Nat. Commun. 2, 393.
-
(2011)
Nat. Commun.
, vol.2
, pp. 393
-
-
Nery, F.C.1
Armata, I.A.2
Farley, J.E.3
Cho, J.A.4
Yaqub, U.5
Chen, P.6
Da Hora, C.C.7
Wang, Q.8
Tagaya, M.9
Klein, C.10
Tannous, B.11
Caldwell, K.A.12
Caldwell, G.A.13
Lencer, W.I.14
Ye, Y.15
Breakefield, X.O.16
-
27
-
-
84900457578
-
3 beta-hydroxysteroid-Delta 24 reductase (DHCR24) protects neuronal cells from apoptotic cell death induced by endoplasmic reticulum (ER) stress
-
Lu, X., Li, Y., Wang, W., Chen, S., Liu, T., Jia, D., Quan, X., Sun, D., Chang, A. K., and Gao, B. (2014) 3 beta-hydroxysteroid-Delta 24 reductase (DHCR24) protects neuronal cells from apoptotic cell death induced by endoplasmic reticulum (ER) stress. PLoS One 9, e86753.
-
(2014)
PLoS One
, vol.9
, pp. e86753
-
-
Lu, X.1
Li, Y.2
Wang, W.3
Chen, S.4
Liu, T.5
Jia, D.6
Quan, X.7
Sun, D.8
Chang, A.K.9
Gao, B.10
-
28
-
-
0034741599
-
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
-
Waterham, H. R., Koster, J., Romeijn, G. J., Hennekam, R. C., Vreken, P., Andersson, H. C., FitzPatrick, D. R., Kelley, R. I., and Wanders, R. J. (2001) Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am. J. Hum. Genet. 69, 685-694.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 685-694
-
-
Waterham, H.R.1
Koster, J.2
Romeijn, G.J.3
Hennekam, R.C.4
Vreken, P.5
Andersson, H.C.6
FitzPatrick, D.R.7
Kelley, R.I.8
Wanders, R.J.9
-
29
-
-
0031011488
-
The putative chaperone calmegin is required for sperm fertility
-
Ikawa, M., Wada, I., Kominami, K., Watanabe, D., Toshimori, K., Nishimune, Y., and Okabe, M. (1997) The putative chaperone calmegin is required for sperm fertility. Nature 387, 607-611.
-
(1997)
Nature
, vol.387
, pp. 607-611
-
-
Ikawa, M.1
Wada, I.2
Kominami, K.3
Watanabe, D.4
Toshimori, K.5
Nishimune, Y.6
Okabe, M.7
-
30
-
-
84901052694
-
ROS function in redox signaling and oxidative stress
-
Schieber, M., and Chandel, N. S. (2014) ROS function in redox signaling and oxidative stress. Curr. Biol. 24, R453-462.
-
(2014)
Curr. Biol.
, vol.24
, pp. R453-E462
-
-
Schieber, M.1
Chandel, N.S.2
-
31
-
-
76649103378
-
A proteomic investigation of liganddependent HSP90 complexes reveals CHORDC1 as a novel ADP-dependent HSP90-interacting protein
-
Gano, J. J., and Simon, J. A. (2010) A proteomic investigation of liganddependent HSP90 complexes reveals CHORDC1 as a novel ADP-dependent HSP90-interacting protein. Mol. Cell. Proteomics 9, 255-270.
-
(2010)
Mol. Cell. Proteomics
, vol.9
, pp. 255-270
-
-
Gano, J.J.1
Simon, J.A.2
-
32
-
-
78149266599
-
HSPB7 is the most potent polyQ aggregation suppressor within the HSPB family of molecular chaperones
-
Vos, M. J., Zijlstra, M. P., Kanon, B., van Waarde-Verhagen, M. A., Brunt, E. R., Oosterveld-Hut, H. M., Carra, S., Sibon, O. C., and Kampinga, H. H. (2010) HSPB7 is the most potent polyQ aggregation suppressor within the HSPB family of molecular chaperones. Hum. Mol. Genet. 19, 4677-4693.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4677-4693
-
-
Vos, M.J.1
Zijlstra, M.P.2
Kanon, B.3
Van Waarde-Verhagen, M.A.4
Brunt, E.R.5
Oosterveld-Hut, H.M.6
Carra, S.7
Sibon, O.C.8
Kampinga, H.H.9
-
33
-
-
20044387607
-
Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor
-
Moreland, R. J., Jin, X., Zhang, X. K., Decker, R. W., Albee, K. L., Lee, K. L., Cauthron, R. D., Brewer, K., Edmunds, T., and Canfield, W. M. (2005) Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J. Biol. Chem. 280, 6780-6791.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 6780-6791
-
-
Moreland, R.J.1
Jin, X.2
Zhang, X.K.3
Decker, R.W.4
Albee, K.L.5
Lee, K.L.6
Cauthron, R.D.7
Brewer, K.8
Edmunds, T.9
Canfield, W.M.10
-
34
-
-
42949148332
-
Genetic variations and treatments that affect the lifespan of the NPC1 mouse
-
Liu, B., Li, H., Repa, J. J., Turley, S. D., and Dietschy, J. M. (2008) Genetic variations and treatments that affect the lifespan of the NPC1 mouse. J. Lipid Res. 49, 663-669.
-
(2008)
J. Lipid Res.
, vol.49
, pp. 663-669
-
-
Liu, B.1
Li, H.2
Repa, J.J.3
Turley, S.D.4
Dietschy, J.M.5
-
35
-
-
84865066581
-
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1
-
Cluzeau, C. V., Watkins-Chow, D. E., Fu, R., Borate, B., Yanjanin, N., Dail, M. K., Davidson, C. D., Walkley, S. U., Ory, D. S., Wassif, C. A., Pavan, W. J., and Porter, F. D. (2012) Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. Hum. Mol. Genet. 21, 3632-3646.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 3632-3646
-
-
Cluzeau, C.V.1
Watkins-Chow, D.E.2
Fu, R.3
Borate, B.4
Yanjanin, N.5
Dail, M.K.6
Davidson, C.D.7
Walkley, S.U.8
Ory, D.S.9
Wassif, C.A.10
Pavan, W.J.11
Porter, F.D.12
-
36
-
-
84055172758
-
Alteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stress
-
Vazquez, M. C., del Pozo, T., Robledo, F. A., Carrasco, G., Pavez, L., Olivares, F., Gonzalez, M., and Zanlungo, S. (2011) Alteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stress. PLoS One 6, e28777.
-
(2011)
PLoS One
, vol.6
, pp. e28777
-
-
Vazquez, M.C.1
Del Pozo, T.2
Robledo, F.A.3
Carrasco, G.4
Pavez, L.5
Olivares, F.6
Gonzalez, M.7
Zanlungo, S.8
-
37
-
-
34250324909
-
Clues to neurodegeneration in Niemann-Pick type C disease from global gene expression profiling
-
Reddy, J. V., Ganley, I. G., and Pfeffer, S. R. (2006) Clues to neurodegeneration in Niemann-Pick type C disease from global gene expression profiling. PLoS One 1, e19.
-
(2006)
PLoS One
, vol.1
, pp. e19
-
-
Reddy, J.V.1
Ganley, I.G.2
Pfeffer, S.R.3
-
38
-
-
35449000085
-
Gene set enrichment analyses revealed several affected pathways in Niemannpick disease type C fibroblasts
-
De Windt, A., Rai, M., Kytomaki, L., Thelen, K. M., Lutjohann, D., Bernier, L., Davignon, J., Soini, J., Pandolfo, M., and Laaksonen, R. (2007) Gene set enrichment analyses revealed several affected pathways in Niemannpick disease type C fibroblasts. DNA Cell Biol. 26, 665-671.
-
(2007)
DNA Cell Biol
, vol.26
, pp. 665-671
-
-
De Windt, A.1
Rai, M.2
Kytomaki, L.3
Thelen, K.M.4
Lutjohann, D.5
Bernier, L.6
Davignon, J.7
Soini, J.8
Pandolfo, M.9
Laaksonen, R.10
-
39
-
-
84858439862
-
Insights into the regulation of protein abundance from proteomic and transcriptomic analyses
-
Vogel, C., and Marcotte, E. M. (2012) Insights into the regulation of protein abundance from proteomic and transcriptomic analyses. Nat. Rev. Genet. 13, 227-232.
-
(2012)
Nat. Rev. Genet.
, vol.13
, pp. 227-232
-
-
Vogel, C.1
Marcotte, E.M.2
-
40
-
-
84868124278
-
Quantitative proteomic analysis of Niemann- Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight
-
Cologna, S. M., Jiang, X. S., Backlund, P. S., Cluzeau, C. V., Dail, M. K., Yanjanin, N. M., Siebel, S., Toth, C. L., Jun, H. S., Wassif, C. A., Yergey, A. L., and Porter, F. D. (2012) Quantitative proteomic analysis of Niemann- Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. PLoS One 7, e47845.
-
(2012)
PLoS One
, vol.7
, pp. e47845
-
-
Cologna, S.M.1
Jiang, X.S.2
Backlund, P.S.3
Cluzeau, C.V.4
Dail, M.K.5
Yanjanin, N.M.6
Siebel, S.7
Toth, C.L.8
Jun, H.S.9
Wassif, C.A.10
Yergey, A.L.11
Porter, F.D.12
-
41
-
-
33644523740
-
Alteration of the glutamate and GABA transporters in the hippocampus of the Niemann-Pick disease, type C mouse using proteomic analysis
-
Byun, K., Kim, J., Cho, S. Y., Hutchinson, B., Yang, S. R., Kang, K. S., Cho, M., Hwang, K., Michikawa, M., Jeon, Y. W., Paik, Y. K., and Lee, B. (2006) Alteration of the glutamate and GABA transporters in the hippocampus of the Niemann-Pick disease, type C mouse using proteomic analysis. Proteomics 6, 1230-1236.
-
(2006)
Proteomics
, vol.6
, pp. 1230-1236
-
-
Byun, K.1
Kim, J.2
Cho, S.Y.3
Hutchinson, B.4
Yang, S.R.5
Kang, K.S.6
Cho, M.7
Hwang, K.8
Michikawa, M.9
Jeon, Y.W.10
Paik, Y.K.11
Lee, B.12
-
42
-
-
84878579784
-
Sumoylation in neurodegenerative diseases
-
Krumova, P., and Weishaupt, J. H. (2013) Sumoylation in neurodegenerative diseases. Cell Mol. Life Sci. 70, 2123-2138.
-
(2013)
Cell Mol. Life Sci.
, vol.70
, pp. 2123-2138
-
-
Krumova, P.1
Weishaupt, J.H.2
-
43
-
-
34547535639
-
The functions of UCH-L1 and its relation to neurodegenerative diseases
-
Setsuie, R., and Wada, K. (2007) The functions of UCH-L1 and its relation to neurodegenerative diseases. Neurochem. Int. 51, 105-111.
-
(2007)
Neurochem. Int.
, vol.51
, pp. 105-111
-
-
Setsuie, R.1
Wada, K.2
-
44
-
-
84855695865
-
Cross-functional E3 ligases Parkin and C-terminus Hsp70-inter-acting protein in neurodegenerative disorders
-
Kumar, P., Pradhan, K., Karunya, R., Ambasta, R. K., and Querfurth, H. W. (2012) Cross-functional E3 ligases Parkin and C-terminus Hsp70-inter-acting protein in neurodegenerative disorders. J. Neurochem. 120, 350-370.
-
(2012)
J. Neurochem.
, vol.120
, pp. 350-370
-
-
Kumar, P.1
Pradhan, K.2
Karunya, R.3
Ambasta, R.K.4
Querfurth, H.W.5
-
45
-
-
0346727127
-
Protein degradation and protection against misfolded or damaged proteins
-
Goldberg, A. L. (2003) Protein degradation and protection against misfolded or damaged proteins. Nature 426, 895-899.
-
(2003)
Nature
, vol.426
, pp. 895-899
-
-
Goldberg, A.L.1
-
46
-
-
55549134611
-
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
-
Lloyd-Evans, E., Morgan, A. J., He, X., Smith, D. A., Elliot-Smith, E., Sillence, D. J., Churchill, G. C., Schuchman, E. H., Galione, A., and Platt, F. M. (2008) Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat. Med. 14, 1247-1255.
-
(2008)
Nat. Med.
, vol.14
, pp. 1247-1255
-
-
Lloyd-Evans, E.1
Morgan, A.J.2
He, X.3
Smith, D.A.4
Elliot-Smith, E.5
Sillence, D.J.6
Churchill, G.C.7
Schuchman, E.H.8
Galione, A.9
Platt, F.M.10
-
47
-
-
84864020267
-
Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts
-
Yu, T., Chung, C., Shen, D., Xu, H., and Lieberman, A. P. (2012) Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts. Hum. Mol. Genet. 21, 3205-3214.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 3205-3214
-
-
Yu, T.1
Chung, C.2
Shen, D.3
Xu, H.4
Lieberman, A.P.5
-
48
-
-
1242291789
-
CHIP: A link between the chaperone and proteasome systems
-
McDonough, H., and Patterson, C. (2003) CHIP: A link between the chaperone and proteasome systems. Cell Stress Chaperones 8, 303-308.
-
(2003)
Cell Stress Chaperones
, vol.8
, pp. 303-308
-
-
McDonough, H.1
Patterson, C.2
-
49
-
-
80054801259
-
Dual role of ancient ubiquitous protein 1 (AUP1) in lipid droplet accumulation and endoplasmic reticulum (ER) protein quality control
-
Klemm, E. J., Spooner, E., and Ploegh, H. L. (2011) Dual role of ancient ubiquitous protein 1 (AUP1) in lipid droplet accumulation and endoplasmic reticulum (ER) protein quality control. J. Biol. Chem. 286, 37602-37614.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 37602-37614
-
-
Klemm, E.J.1
Spooner, E.2
Ploegh, H.L.3
-
50
-
-
84890144959
-
Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease
-
Sarkar, S., Carroll, B., Buganim, Y., Maetzel, D., Ng, A. H., Cassady, J. P., Cohen, M. A., Chakraborty, S., Wang, H., Spooner, E., Ploegh, H., Gsponer, J., Korolchuk, V. I., and Jaenisch, R. (2013) Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease. Cell Rep. 5, 1302-1315.
-
(2013)
Cell Rep
, vol.5
, pp. 1302-1315
-
-
Sarkar, S.1
Carroll, B.2
Buganim, Y.3
Maetzel, D.4
Ng, A.H.5
Cassady, J.P.6
Cohen, M.A.7
Chakraborty, S.8
Wang, H.9
Spooner, E.10
Ploegh, H.11
Gsponer, J.12
Korolchuk, V.I.13
Jaenisch, R.14
-
51
-
-
0030658986
-
Enhanced depolarization- evoked calcium signal and reduced [ATP]/[ADP] ratio are unrelated events induced by oxidative stress in synaptosomes
-
Tretter, L., Chinopoulos, C., and Adam-Vizi, V. (1997) Enhanced depolarization- evoked calcium signal and reduced [ATP]/[ADP] ratio are unrelated events induced by oxidative stress in synaptosomes. J. Neurochem. 69, 2529-2537.
-
(1997)
J. Neurochem.
, vol.69
, pp. 2529-2537
-
-
Tretter, L.1
Chinopoulos, C.2
Adam-Vizi, V.3
-
52
-
-
38549141572
-
Cellular cholesterol trafficking and compartmentalization
-
Ikonen, E. (2008) Cellular cholesterol trafficking and compartmentalization. Nat. Rev. Mol. Cell Biol. 9, 125-138.
-
(2008)
Nat. Rev. Mol. Cell Biol.
, vol.9
, pp. 125-138
-
-
Ikonen, E.1
-
53
-
-
78149342830
-
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease
-
Porter, F. D., Scherrer, D. E., Lanier, M. H., Langmade, S. J., Molugu, V., Gale, S. E., Olzeski, D., Sidhu, R., Dietzen, D. J., Fu, R., Wassif, C. A., Yanjanin, N. M., Marso, S. P., House, J., Vite, C., Schaffer, J. E., and Ory, D. S. (2010) Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci. Transl. Med. 2, 56ra81.
-
(2010)
Sci. Transl. Med.
, vol.2
, pp. 56ra81
-
-
Porter, F.D.1
Scherrer, D.E.2
Lanier, M.H.3
Langmade, S.J.4
Molugu, V.5
Gale, S.E.6
Olzeski, D.7
Sidhu, R.8
Dietzen, D.J.9
Fu, R.10
Wassif, C.A.11
Yanjanin, N.M.12
Marso, S.P.13
House, J.14
Vite, C.15
Schaffer, J.E.16
Ory, D.S.17
-
54
-
-
28644446115
-
The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments
-
Johansson, M., Lehto, M., Tanhuanpaa, K., Cover, T. L., and Olkkonen, V. M. (2005) The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments. Mol. Biol. Cell 16, 5480-5492.
-
(2005)
Mol. Biol. Cell
, vol.16
, pp. 5480-5492
-
-
Johansson, M.1
Lehto, M.2
Tanhuanpaa, K.3
Cover, T.L.4
Olkkonen, V.M.5
-
55
-
-
34447340627
-
Association study of cholesterol-related genes in Alzheimer's disease
-
Wollmer, M. A., Sleegers, K., Ingelsson, M., Zekanowski, C., Brouwers, N., Maruszak, A., Brunner, F., Huynh, K. D., Kilander, L., Brundin, R. M., Hedlund, M., Giedraitis, V., Glaser, A., Engelborghs, S., De Deyn, P. P., Kapaki, E., Tsolaki, M., Daniilidou, M., Molyva, D., Paraskevas, G. P., Thal, D. R., Barcikowska, M., Kuznicki, J., Lannfelt, L., Van Broeckhoven, C., Nitsch, R. M., Hock, C., and Papassotiropoulos, A. (2007) Association study of cholesterol-related genes in Alzheimer's disease. Neurogenetics 8, 179-188.
-
(2007)
Neurogenetics
, vol.8
, pp. 179-188
-
-
Wollmer, M.A.1
Sleegers, K.2
Ingelsson, M.3
Zekanowski, C.4
Brouwers, N.5
Maruszak, A.6
Brunner, F.7
Huynh, K.D.8
Kilander, L.9
Brundin, R.M.10
Hedlund, M.11
Giedraitis, V.12
Glaser, A.13
Engelborghs, S.14
De Deyn, P.P.15
Kapaki, E.16
Tsolaki, M.17
Daniilidou, M.18
Molyva, D.19
Paraskevas, G.P.20
Thal, D.R.21
Barcikowska, M.22
Kuznicki, J.23
Lannfelt, L.24
Van Broeckhoven, C.25
Nitsch, R.M.26
Hock, C.27
Papassotiropoulos, A.28
more..
-
56
-
-
0033042287
-
Increased apolipoprotein B serum concentration in Alzheimer's disease
-
Caramelli, P., Nitrini, R., Maranhao, R., Lourenco, A. C., Damasceno, M. C., Vinagre, C., and Caramelli, B. (1999) Increased apolipoprotein B serum concentration in Alzheimer's disease. Acta Neurol. Scand. 100, 61-63.
-
(1999)
Acta Neurol. Scand.
, vol.100
, pp. 61-63
-
-
Caramelli, P.1
Nitrini, R.2
Maranhao, R.3
Lourenco, A.C.4
Damasceno, M.C.5
Vinagre, C.6
Caramelli, B.7
-
57
-
-
0030925341
-
Molecular endocrinology of hydroxysteroid dehydrogenases
-
Penning, T. M. (1997) Molecular endocrinology of hydroxysteroid dehydrogenases. Endocr. Rev. 18, 281-305.
-
(1997)
Endocr. Rev.
, vol.18
, pp. 281-305
-
-
Penning, T.M.1
-
58
-
-
0026768211
-
Saposins: Structure, function, distribution, and molecular genetics
-
Kishimoto, Y., Hiraiwa, M., and O'Brien, J. S. (1992) Saposins: structure, function, distribution, and molecular genetics. J. Lipid Res. 33, 1255-1267.
-
(1992)
J. Lipid Res.
, vol.33
, pp. 1255-1267
-
-
Kishimoto, Y.1
Hiraiwa, M.2
O'Brien, J.S.3
-
59
-
-
84862571492
-
The role of saposin C in Gaucher disease
-
Tamargo, R. J., Velayati, A., Goldin, E., and Sidransky, E. (2012) The role of saposin C in Gaucher disease. Mol. Genet. Metab. 106, 257-263.
-
(2012)
Mol. Genet. Metab.
, vol.106
, pp. 257-263
-
-
Tamargo, R.J.1
Velayati, A.2
Goldin, E.3
Sidransky, E.4
-
60
-
-
71549134227
-
Oxidative stress in NPC1 deficient cells: Protective effect of allopregnanolone
-
Zampieri, S., Mellon, S. H., Butters, T. D., Nevyjel, M., Covey, D. F., Bembi, B., and Dardis, A. (2009) Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. J. Cell Mol. Med. 13, 3786-3796.
-
(2009)
J. Cell Mol. Med.
, vol.13
, pp. 3786-3796
-
-
Zampieri, S.1
Mellon, S.H.2
Butters, T.D.3
Nevyjel, M.4
Covey, D.F.5
Bembi, B.6
Dardis, A.7
-
61
-
-
0031770206
-
Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype
-
Tint, G. S., Pentchev, P., Xu, G., Batta, A. K., Shefer, S., Salen, G., and Honda, A. (1998) Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype. J. Inherit. Metab. Dis. 21, 853-863.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 853-863
-
-
Tint, G.S.1
Pentchev, P.2
Xu, G.3
Batta, A.K.4
Shefer, S.5
Salen, G.6
Honda, A.7
-
62
-
-
45749136703
-
Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking
-
Zhang, J. R., Coleman, T., Langmade, S. J., Scherrer, D. E., Lane, L., Lanier, M. H., Feng, C., Sands, M. S., Schaffer, J. E., Semenkovich, C. F., and Ory, D. S. (2008) Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking. J. Clin. Invest. 118, 2281-2290.
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 2281-2290
-
-
Zhang, J.R.1
Coleman, T.2
Langmade, S.J.3
Scherrer, D.E.4
Lane, L.5
Lanier, M.H.6
Feng, C.7
Sands, M.S.8
Schaffer, J.E.9
Semenkovich, C.F.10
Ory, D.S.11
-
63
-
-
33646570847
-
Isobaric tags for relative and absolute quantitation (iTRAQ) reproducibility: Implication of multiple injections
-
Chong, P. K., Gan, C. S., Pham, T. K., and Wright, P. C. (2006) Isobaric tags for relative and absolute quantitation (iTRAQ) reproducibility: Implication of multiple injections. J. Proteome Res. 5, 1232-1240.
-
(2006)
J. Proteome Res.
, vol.5
, pp. 1232-1240
-
-
Chong, P.K.1
Gan, C.S.2
Pham, T.K.3
Wright, P.C.4
-
64
-
-
54049085754
-
Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease
-
Alvarez, A. R., Klein, A., Castro, J., Cancino, G. I., Amigo, J., Mosqueira, M., Vargas, L. M., Yevenes, L. F., Bronfman, F. C., and Zanlungo, S. (2008) Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease. FASEB J. 22, 3617-3627.
-
(2008)
FASEB J
, vol.22
, pp. 3617-3627
-
-
Alvarez, A.R.1
Klein, A.2
Castro, J.3
Cancino, G.I.4
Amigo, J.5
Mosqueira, M.6
Vargas, L.M.7
Yevenes, L.F.8
Bronfman, F.C.9
Zanlungo, S.10
-
65
-
-
78349306067
-
Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann- Pick type C neurons
-
Klein, A., Maldonado, C., Vargas, L. M., Gonzalez, M., Robledo, F., Perez de Arce, K., Munoz, F. J., Hetz, C., Alvarez, A. R., and Zanlungo, S. (2011) Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann- Pick type C neurons. Neurobiol Dis 41, 209-218.
-
(2011)
Neurobiol Dis
, vol.41
, pp. 209-218
-
-
Klein, A.1
Maldonado, C.2
Vargas, L.M.3
Gonzalez, M.4
Robledo, F.5
Perez De Arce, K.6
Munoz, F.J.7
Hetz, C.8
Alvarez, A.R.9
Zanlungo, S.10
-
66
-
-
84884908350
-
SOD2 in mitochondrial dysfunction and neurodegeneration
-
Flynn, J. M., and Melov, S. (2013) SOD2 in mitochondrial dysfunction and neurodegeneration. Free Radic. Biol. Med. 62, 4-12.
-
(2013)
Free Radic. Biol. Med.
, vol.62
, pp. 4-12
-
-
Flynn, J.M.1
Melov, S.2
-
67
-
-
6344277918
-
Essential role for mitochondrial thioredoxin reductase in hematopoiesis, heart development, and heart function
-
Conrad, M., Jakupoglu, C., Moreno, S. G., Lippl, S., Banjac, A., Schneider, M., Beck, H., Hatzopoulos, A. K., Just, U., Sinowatz, F., Schmahl, W., Chien, K. R., Wurst, W., Bornkamm, G. W., and Brielmeier, M. (2004) Essential role for mitochondrial thioredoxin reductase in hematopoiesis, heart development, and heart function. Mol. Cell. Biol. 24, 9414-9423.
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 9414-9423
-
-
Conrad, M.1
Jakupoglu, C.2
Moreno, S.G.3
Lippl, S.4
Banjac, A.5
Schneider, M.6
Beck, H.7
Hatzopoulos, A.K.8
Just, U.9
Sinowatz, F.10
Schmahl, W.11
Chien, K.R.12
Wurst, W.13
Bornkamm, G.W.14
Brielmeier, M.15
-
68
-
-
18844400905
-
Peroxiredoxin 6, a 1-Cys peroxiredoxin, functions in antioxidant defense and lung phospholipid metabolism
-
Manevich, Y., and Fisher, A. B. (2005) Peroxiredoxin 6, a 1-Cys peroxiredoxin, functions in antioxidant defense and lung phospholipid metabolism. Free Radic. Biol. Med. 38, 1422-1432.
-
(2005)
Free Radic. Biol. Med.
, vol.38
, pp. 1422-1432
-
-
Manevich, Y.1
Fisher, A.B.2
-
69
-
-
79959654327
-
Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment
-
Aqul, A., Liu, B., Ramirez, C. M., Pieper, A. A., Estill, S. J., Burns, D. K., Liu, B., Repa, J. J., Turley, S. D., and Dietschy, J. M. (2011) Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment. J. Neurosci. 31, 9404-9413.
-
(2011)
J. Neurosci.
, vol.31
, pp. 9404-9413
-
-
Aqul, A.1
Liu, B.2
Ramirez, C.M.3
Pieper, A.A.4
Estill, S.J.5
Burns, D.K.6
Liu, B.7
Repa, J.J.8
Turley, S.D.9
Dietschy, J.M.10
-
70
-
-
79954995849
-
Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann- Pick type C1 mutant human fibroblasts
-
Pipalia, N. H., Cosner, C. C., Huang, A., Chatterjee, A., Bourbon, P., Farley, N., Helquist, P., Wiest, O., and Maxfield, F. R. (2011) Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann- Pick type C1 mutant human fibroblasts. Proc. Natl. Acad. Sci. U.S.A. 108, 5620-5625.
-
(2011)
Proc. Natl. Acad. Sci. U.S.A.
, vol.108
, pp. 5620-5625
-
-
Pipalia, N.H.1
Cosner, C.C.2
Huang, A.3
Chatterjee, A.4
Bourbon, P.5
Farley, N.6
Helquist, P.7
Wiest, O.8
Maxfield, F.R.9
-
71
-
-
84881600379
-
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1
-
Fu, R., Wassif, C. A., Yanjanin, N. M., Watkins-Chow, D. E., Baxter, L. L., Incao, A., Liscum, L., Sidhu, R., Firnkes, S., Graham, M., Ory, D. S., Porter, F. D., and Pavan, W. J. (2013) Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. Hum. Mol. Genet. 22, 3508-3523.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 3508-3523
-
-
Fu, R.1
Wassif, C.A.2
Yanjanin, N.M.3
Watkins-Chow, D.E.4
Baxter, L.L.5
Incao, A.6
Liscum, L.7
Sidhu, R.8
Firnkes, S.9
Graham, M.10
Ory, D.S.11
Porter, F.D.12
Pavan, W.J.13
-
72
-
-
84891796097
-
ProteomeXchange provides globally co-ordinated proteomics data submission and dissemination
-
Vizcaíno, J. A., Deutsch, E. W., Wang, R., Csordas, A., Reisinger, F., Ríos, D., Dianes, J. A., Sun, Z., Farrah, T., Bandeira, N., Binz, P. A., Xenarios, I., Eisenacher, M., Mayer, G., Gatto, L., Campos, A., Chalkley, R. J., Kraus, H. J., Albar, J. P., Martinez-Bartolomé, S., Apweiler, R., Omenn, G. S., Martens, L., Jones, A. R., Hermjakob, H. (2014) ProteomeXchange provides globally co-ordinated proteomics data submission and dissemination. Nat. Biotechnol. 30, 223-226.
-
(2014)
Nat. Biotechnol.
, vol.30
, pp. 223-226
-
-
Vizcaíno, J.A.1
Deutsch, E.W.2
Wang, R.3
Csordas, A.4
Reisinger, F.5
Ríos, D.6
Dianes, J.A.7
Sun, Z.8
Farrah, T.9
Bandeira, N.10
Binz, P.A.11
Xenarios, I.12
Eisenacher, M.13
Mayer, G.14
Gatto, L.15
Campos, A.16
Chalkley, R.J.17
Kraus, H.J.18
Albar, J.P.19
Martinez-Bartolomé, S.20
Apweiler, R.21
Omenn, G.S.22
Martens, L.23
Jones, A.R.24
Hermjakob, H.25
more..
|