-
1
-
-
84861431900
-
Brain-wide neuronal dynamics during motor adaptation in zebrafish
-
Ahrens, M. B., Li, J. M., Orger, M. B., Robson, D. N., Schier, A. F., Engert, F. and Portugues, R. (2012). Brain-wide neuronal dynamics during motor adaptation in zebrafish. Nature 485, 471-477.
-
(2012)
Nature
, vol.485
, pp. 471-477
-
-
Ahrens, M.B.1
Li, J.M.2
Orger, M.B.3
Robson, D.N.4
Schier, A.F.5
Engert, F.6
Portugues, R.7
-
2
-
-
33847076127
-
Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway
-
Bifsha, P., Landry, K., Ashmarina, L., Durand, S., Seyrantepe, V., Trudel, S., Quiniou, C., Chemtob, S., Xu, Y., Gravel, R. A. et al. (2007). Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway. Cell Death Differ. 14, 511-523.
-
(2007)
Cell Death Differ.
, vol.14
, pp. 511-523
-
-
Bifsha, P.1
Landry, K.2
Ashmarina, L.3
Durand, S.4
Seyrantepe, V.5
Trudel, S.6
Quiniou, C.7
Chemtob, S.8
Xu, Y.9
Gravel, R.A.10
-
3
-
-
0037319111
-
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease
-
Blom, T. S., Linder, M. D., Snow, K., Pihko, H., Hess, M. W., Jokitalo, E., Veckman, V., Syvänen, A. C. and Ikonen, E. (2003). Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum. Mol. Genet. 12, 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
Syvänen, A.C.8
Ikonen, E.9
-
4
-
-
84863005612
-
Niemann-Pick C1 mice, a model of 'juvenile Alzheimer's disease', with normal gene expression in neurons and fibrillary astrocytes show long term survival and delayed neurodegeneration
-
Borbon, I., Totenhagen, J., Fiorenza, M. T., Canterini, S., Ke, W., Trouard, T. and Erickson, R. P. (2012). Niemann-Pick C1 mice, a model of 'juvenile Alzheimer's disease', with normal gene expression in neurons and fibrillary astrocytes show long term survival and delayed neurodegeneration. J. Alzheimers Dis. 30, 875-887.
-
(2012)
J. Alzheimers Dis.
, vol.30
, pp. 875-887
-
-
Borbon, I.1
Totenhagen, J.2
Fiorenza, M.T.3
Canterini, S.4
Ke, W.5
Trouard, T.6
Erickson, R.P.7
-
5
-
-
84869132784
-
Purkinje cell maturation participates in the control of oligodendrocyte differentiation: Role of sonic hedgehog and vitronectin
-
Bouslama-Oueghlani, L., Wehrlé, R., Doulazmi, M., Chen, X. R., Jaudon, F., Lemaigre-Dubreuil, Y., Rivals, I., Sotelo, C. and Dusart, I. (2012). Purkinje cell maturation participates in the control of oligodendrocyte differentiation: role of sonic hedgehog and vitronectin. PLoS ONE 7, e49015.
-
(2012)
PLoS ONE
, vol.7
-
-
Bouslama-Oueghlani, L.1
Wehrlé, R.2
Doulazmi, M.3
Chen, X.R.4
Jaudon, F.5
Lemaigre-Dubreuil, Y.6
Rivals, I.7
Sotelo, C.8
Dusart, I.9
-
6
-
-
84861723960
-
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
-
Bras, J., Verloes, A., Schneider, S. A., Mole, S. E. and Guerreiro, R. J. (2012). Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum. Mol. Genet. 21, 2646-2650.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 2646-2650
-
-
Bras, J.1
Verloes, A.2
Schneider, S.A.3
Mole, S.E.4
Guerreiro, R.J.5
-
7
-
-
79956158611
-
Npc1 is involved in sterol trafficking in the filamentous fungus Fusarium graminearum
-
Breakspear, A., Pasquali, M., Broz, K., Dong, Y. and Kistler, H. C. (2011). Npc1 is involved in sterol trafficking in the filamentous fungus Fusarium graminearum. Fungal Genet. Biol. 48, 725-730.
-
(2011)
Fungal Genet. Biol.
, vol.48
, pp. 725-730
-
-
Breakspear, A.1
Pasquali, M.2
Broz, K.3
Dong, Y.4
Kistler, H.C.5
-
8
-
-
80052851832
-
Ebola virus entry requires the cholesterol transporter Niemann-Pick C1
-
Carette, J. E., Raaben, M., Wong, A. C., Herbert, A. S., Obernosterer, G., Mulherkar, N., Kuehne, A. I., Kranzusch, P. J., Griffin, A. M., Ruthel, G. et al. (2011). Ebola virus entry requires the cholesterol transporter Niemann-Pick C1. Nature 477, 340-343.
-
(2011)
Nature
, vol.477
, pp. 340-343
-
-
Carette, J.E.1
Raaben, M.2
Wong, A.C.3
Herbert, A.S.4
Obernosterer, G.5
Mulherkar, N.6
Kuehne, A.I.7
Kranzusch, P.J.8
Griffin, A.M.9
Ruthel, G.10
-
9
-
-
33750318425
-
Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal cholesterol transport
-
Cheruku, S. R., Xu, Z., Dutia, R., Lobel, P. and Storch, J. (2006). Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal cholesterol transport. J. Biol. Chem. 281, 31594-31604.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 31594-31604
-
-
Cheruku, S.R.1
Xu, Z.2
Dutia, R.3
Lobel, P.4
Storch, J.5
-
10
-
-
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. et al. (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
-
-
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
-
11
-
-
80052868218
-
Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection
-
Côté, M., Misasi, J., Ren, T., Bruchez, A., Lee, K., Filone, C. M., Hensley, L., Li, Q., Ory, D., Chandran, K. et al. (2011). Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection. Nature 477, 344-348.
-
(2011)
Nature
, vol.477
, pp. 344-348
-
-
Côté, M.1
Misasi, J.2
Ren, T.3
Bruchez, A.4
Lee, K.5
Filone, C.M.6
Hensley, L.7
Li, Q.8
Ory, D.9
Chandran, K.10
-
12
-
-
33749010065
-
Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport
-
Custer, S. K., Garden, G. A., Gill, N., Rueb, U., Libby, R. T., Schultz, C., Guyenet, S. J., Deller, T., Westrum, L. E., Sopher, B. L. et al. (2006). Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport. Nat. Neurosci. 9, 1302-1311.
-
(2006)
Nat. Neurosci.
, vol.9
, pp. 1302-1311
-
-
Custer, S.K.1
Garden, G.A.2
Gill, N.3
Rueb, U.4
Libby, R.T.5
Schultz, C.6
Guyenet, S.J.7
Deller, T.8
Westrum, L.E.9
Sopher, B.L.10
-
13
-
-
0032796826
-
Sonic hedgehog regulates the growth and patterning of the cerebellum
-
Dahmane, N. and Ruiz i Altaba, A. (1999). Sonic hedgehog regulates the growth and patterning of the cerebellum. Development 126, 3089-3100.
-
(1999)
Development
, vol.126
, pp. 3089-3100
-
-
Dahmane, N.1
Ruiz Altaba, I.A.2
-
14
-
-
0036500609
-
A genomic regulatory network for development
-
Davidson, E. H., Rast, J. P., Oliveri, P., Ransick, A., Calestani, C., Yuh, C. H., Minokawa, T., Amore, G., Hinman, V., Arenas-Mena, C. et al. (2002). A genomic regulatory network for development. Science 295, 1669-1678.
-
(2002)
Science
, vol.295
, pp. 1669-1678
-
-
Davidson, E.H.1
Rast, J.P.2
Oliveri, P.3
Ransick, A.4
Calestani, C.5
Yuh, C.H.6
Minokawa, T.7
Amore, G.8
Hinman, V.9
Arenas-Mena, C.10
-
15
-
-
82755197370
-
Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding
-
Deffieu, M. S. and Pfeffer, S. R. (2011). Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding. Proc. Natl. Acad. Sci. USA 108, 18932-18936.
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 18932-18936
-
-
Deffieu, M.S.1
Pfeffer, S.R.2
-
16
-
-
84862189804
-
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration
-
Dehay, B., Ramirez, A., Martinez-Vicente, M., Perier, C., Canron, M. H., Doudnikoff, E., Vital, A., Vila, M., Klein, C. and Bezard, E. (2012). Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. Proc. Natl. Acad. Sci. USA 109, 9611-9616.
-
(2012)
Proc. Natl. Acad. Sci. USA
, vol.109
, pp. 9611-9616
-
-
Dehay, B.1
Ramirez, A.2
Martinez-Vicente, M.3
Perier, C.4
Canron, M.H.5
Doudnikoff, E.6
Vital, A.7
Vila, M.8
Klein, C.9
Bezard, E.10
-
17
-
-
48249102000
-
Phylogeny.Fr: Robust phylogenetic analysis for the non-specialist
-
Web Server issue
-
Dereeper, A., Guignon, V., Blanc, G., Audic, S., Buffet, S., Chevenet, F., Dufayard, J. F., Guindon, S., Lefort, V., Lescot, M. et al. (2008). Phylogeny.fr: robust phylogenetic analysis for the non-specialist. Nucleic Acids Res. 36 Web Server issue, W465-469.
-
(2008)
Nucleic Acids Res.
, vol.36
-
-
Dereeper, A.1
Guignon, V.2
Blanc, G.3
Audic, S.4
Buffet, S.5
Chevenet, F.6
Dufayard, J.F.7
Guindon, S.8
Lefort, V.9
Lescot, M.10
-
18
-
-
84865531819
-
Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder
-
Di Malta, C., Fryer, J. D., Settembre, C. and Ballabio, A. (2012). Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder. Proc. Natl. Acad. Sci. USA 109, E2334-E2342.
-
(2012)
Proc. Natl. Acad. Sci. USA
, vol.109
-
-
Di Malta, C.1
Fryer, J.D.2
Settembre, C.3
Ballabio, A.4
-
19
-
-
77950544225
-
Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration
-
Elrick, M. J., Pacheco, C. D., Yu, T., Dadgar, N., Shakkottai, V. G., Ware, C., Paulson, H. L. and Lieberman, A. P. (2010). Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Hum. Mol. Genet. 19, 837-847.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 837-847
-
-
Elrick, M.J.1
Pacheco, C.D.2
Yu, T.3
Dadgar, N.4
Shakkottai, V.G.5
Ware, C.6
Paulson, H.L.7
Lieberman, A.P.8
-
20
-
-
84876025298
-
Current controversies in Niemann-Pick C1 disease: Steroids or gangliosides; Neurons or neurons and glia
-
Erickson, R. P. (2013). Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia. J. Appl. Genet. 54, 215-224.
-
(2013)
J. Appl. Genet.
, vol.54
, pp. 215-224
-
-
Erickson, R.P.1
-
21
-
-
81455128242
-
Animal models for Gaucher disease research
-
Farfel-Becker, T., Vitner, E. B. and Futerman, A. H. (2011). Animal models for Gaucher disease research. Dis. Model. Mech. 4, 746-752.
-
(2011)
Dis. Model. Mech.
, vol.4
, pp. 746-752
-
-
Farfel-Becker, T.1
Vitner, E.B.2
Futerman, A.H.3
-
22
-
-
33644764857
-
Mutations of a Drosophila NPC1 gene confer sterol and ecdysone metabolic defects
-
Fluegel, M. L., Parker, T. J. and Pallanck, L. J. (2006). Mutations of a Drosophila NPC1 gene confer sterol and ecdysone metabolic defects. Genetics 172, 185-196.
-
(2006)
Genetics
, vol.172
, pp. 185-196
-
-
Fluegel, M.L.1
Parker, T.J.2
Pallanck, L.J.3
-
23
-
-
84878911804
-
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
-
Gan-Or, Z., Ozelius, L. J., Bar-Shira, A., Saunders-Pullman, R., Mirelman, A., Kornreich, R., Gana-Weisz, M., Raymond, D., Rozenkrantz, L., Deik, A. et al. (2013). The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 80, 1606-1610.
-
(2013)
Neurology
, vol.80
, pp. 1606-1610
-
-
Gan-Or, Z.1
Ozelius, L.J.2
Bar-Shira, A.3
Saunders-Pullman, R.4
Mirelman, A.5
Kornreich, R.6
Gana-Weisz, M.7
Raymond, D.8
Rozenkrantz, L.9
Deik, A.10
-
25
-
-
80051544097
-
Animal models of lysosomal storage diseases: Their development and clinical relevance
-
(ed. A. Mehta, M. Beck and G. Sunder-Plassmann). Oxford: Oxford PharmaGenesis
-
Haskins, M. E., Giger, U. and Patterson, D. F. (2006). Animal models of lysosomal storage diseases: their development and clinical relevance. In Fabry Disease: Perspectives from 5 Years of FOS (ed. A. Mehta, M. Beck and G. Sunder-Plassmann). Oxford: Oxford PharmaGenesis.
-
(2006)
Fabry Disease: Perspectives from 5 Years of FOS
-
-
Haskins, M.E.1
Giger, U.2
Patterson, D.F.3
-
26
-
-
67649972439
-
The hedgehog signaling pathway: Where did it come from?
-
Hausmann, G., von Mering, C. and Basler, K. (2009). The hedgehog signaling pathway: where did it come from? PLoS Biol. 7, e1000146.
-
(2009)
PLoS Biol
, vol.7
-
-
Hausmann, G.1
Von Mering, C.2
Basler, K.3
-
27
-
-
0032792203
-
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation
-
Hsu, Y. S., Hwu, W. L., Huang, S. F., Lu, M. Y., Chen, R. L., Lin, D. T., Peng, S. S. and Lin, K. H. (1999). Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. Bone Marrow Transplant. 24, 103-107.
-
(1999)
Bone Marrow Transplant.
, vol.24
, pp. 103-107
-
-
Hsu, Y.S.1
Hwu, W.L.2
Huang, S.F.3
Lu, M.Y.4
Chen, R.L.5
Lin, D.T.6
Peng, S.S.7
Lin, K.H.8
-
28
-
-
28844473468
-
A Drosophila model of the Niemann-Pick type C lysosome storage disease: Dnpc1a is required for molting and sterol homeostasis
-
Huang, X., Suyama, K., Buchanan, J., Zhu, A. J. and Scott, M. P. (2005). A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis. Development 132, 5115-5124.
-
(2005)
Development
, vol.132
, pp. 5115-5124
-
-
Huang, X.1
Suyama, K.2
Buchanan, J.3
Zhu, A.J.4
Scott, M.P.5
-
29
-
-
79551523377
-
Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice
-
Igaz, L. M., Kwong, L. K., Lee, E. B., Chen-Plotkin, A., Swanson, E., Unger, T., Malunda, J., Xu, Y., Winton, M. J., Trojanowski, J. Q. et al. (2011). Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice. J. Clin. Invest. 121, 726-738.
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 726-738
-
-
Igaz, L.M.1
Kwong, L.K.2
Lee, E.B.3
Chen-Plotkin, A.4
Swanson, E.5
Unger, T.6
Malunda, J.7
Xu, Y.8
Winton, M.J.9
Trojanowski, J.Q.10
-
30
-
-
74049164709
-
Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond
-
Ilieva, H., Polymenidou, M. and Cleveland, D. W. (2009). Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J. Cell Biol. 187, 761-772.
-
(2009)
J. Cell Biol.
, vol.187
, pp. 761-772
-
-
Ilieva, H.1
Polymenidou, M.2
Cleveland, D.W.3
-
31
-
-
38149069055
-
Purified NPC1 protein. I. Binding of cholesterol and oxysterols to a 1278-amino acid membrane protein
-
Infante, R. E., Abi-Mosleh, L., Radhakrishnan, A., Dale, J. D., Brown, M. S. and Goldstein, J. L. (2008). Purified NPC1 protein. I. Binding of cholesterol and oxysterols to a 1278-amino acid membrane protein. J. Biol. Chem. 283, 1052-1063.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 1052-1063
-
-
Infante, R.E.1
Abi-Mosleh, L.2
Radhakrishnan, A.3
Dale, J.D.4
Brown, M.S.5
Goldstein, J.L.6
-
32
-
-
79251649453
-
Niemann-Pick C disease: Not your average lysosomal storage disease
-
Kaye, E. M. (2011). Niemann-Pick C disease: not your average lysosomal storage disease. Neurology 76, 316-317.
-
(2011)
Neurology
, vol.76
, pp. 316-317
-
-
Kaye, E.M.1
-
33
-
-
0035163949
-
Dynamic movements of organelles containing Niemann-Pick C1 protein: NPC1 involvement in late endocytic events
-
Ko, D. C., Gordon, M. D., Jin, J. Y. and Scott, M. P. (2001). Dynamic movements of organelles containing Niemann-Pick C1 protein: NPC1 involvement in late endocytic events. Mol. Biol. Cell 12, 601-614.
-
(2001)
Mol. Biol. Cell
, vol.12
, pp. 601-614
-
-
Ko, D.C.1
Gordon, M.D.2
Jin, J.Y.3
Scott, M.P.4
-
34
-
-
36148991943
-
Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease
-
Ko, D. C., Milenkovic, L., Beier, S. M., Manuel, H., Buchanan, J. and Scott, M. P. (2005). Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease. PLoS Genet. 1, 81-95.
-
(2005)
PLoS Genet.
, vol.1
, pp. 81-95
-
-
Ko, D.C.1
Milenkovic, L.2
Beier, S.M.3
Manuel, H.4
Buchanan, J.5
Scott, M.P.6
-
35
-
-
84870613982
-
Niemann-Pick C1 (NPC1)/NPC1-like1 chimeras define sequences critical for NPC1's function as a flovirus entry receptor
-
Krishnan, A., Miller, E. H., Herbert, A. S., Ng, M., Ndungo, E., Whelan, S. P., Dye, J. M. and Chandran, K. (2012). Niemann-Pick C1 (NPC1)/NPC1-like1 chimeras define sequences critical for NPC1's function as a flovirus entry receptor. Viruses 4, 2471-2484.
-
(2012)
Viruses
, vol.4
, pp. 2471-2484
-
-
Krishnan, A.1
Miller, E.H.2
Herbert, A.S.3
Ng, M.4
Ndungo, E.5
Whelan, S.P.6
Dye, J.M.7
Chandran, K.8
-
36
-
-
33847314221
-
Lipid homeostasis and lipoprotein secretion in Niemann-Pick C1-deficient hepatocytes
-
Kulinski, A. and Vance, J. E. (2007). Lipid homeostasis and lipoprotein secretion in Niemann-Pick C1-deficient hepatocytes. J. Biol. Chem. 282, 1627-1637.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 1627-1637
-
-
Kulinski, A.1
Vance, J.E.2
-
37
-
-
33646933785
-
A small-molecule screen in C. Elegans yields a new calcium channel antagonist
-
Kwok, T. C., Ricker, N., Fraser, R., Chan, A. W., Burns, A., Stanley, E. F., McCourt, P., Cutler, S. R. and Roy, P. J. (2006). A small-molecule screen in C. elegans yields a new calcium channel antagonist. Nature 441, 91-95.
-
(2006)
Nature
, vol.441
, pp. 91-95
-
-
Kwok, T.C.1
Ricker, N.2
Fraser, R.3
Chan, A.W.4
Burns, A.5
Stanley, E.F.6
McCourt, P.7
Cutler, S.R.8
Roy, P.J.9
-
38
-
-
67549105629
-
Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol
-
Kwon, H. J., Abi-Mosleh, L., Wang, M. L., Deisenhofer, J., Goldstein, J. L., Brown, M. S. and Infante, R. E. (2009). Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Cell 137, 1213-1224.
-
(2009)
Cell
, vol.137
, pp. 1213-1224
-
-
Kwon, H.J.1
Abi-Mosleh, L.2
Wang, M.L.3
Deisenhofer, J.4
Goldstein, J.L.5
Brown, M.S.6
Infante, R.E.7
-
39
-
-
0037198698
-
Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration
-
LaMonte, B. H., Wallace, K. E., Holloway, B. A., Shelly, S. S., Ascaño, J., Tokito, M., Van Winkle, T., Howland, D. S. and Holzbaur, E. L. (2002). Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34, 715-727.
-
(2002)
Neuron
, vol.34
, pp. 715-727
-
-
Lamonte, B.H.1
Wallace, K.E.2
Holloway, B.A.3
Shelly, S.S.4
Ascaño, J.5
Tokito, M.6
Van Winkle, T.7
Howland, D.S.8
Holzbaur, E.L.9
-
40
-
-
10344229417
-
NCR-1 and NCR-2, the C. Elegans homologs of the human Niemann-Pick type C1 disease protein, function upstream of DAF-9 in the dauer formation pathways
-
Li, J., Brown, G., Ailion, M., Lee, S. and Thomas, J. H. (2004). NCR-1 and NCR-2, the C. elegans homologs of the human Niemann-Pick type C1 disease protein, function upstream of DAF-9 in the dauer formation pathways. Development 131, 5741-5752.
-
(2004)
Development
, vol.131
, pp. 5741-5752
-
-
Li, J.1
Brown, G.2
Ailion, M.3
Lee, S.4
Thomas, J.H.5
-
41
-
-
34548860918
-
Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/-mouse brain
-
Liao, G., Yao, Y., Liu, J., Yu, Z., Cheung, S., Xie, A., Liang, X. and Bi, X. (2007). Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/-mouse brain. Am. J. Pathol. 171, 962-975.
-
(2007)
Am. J. Pathol.
, vol.171
, pp. 962-975
-
-
Liao, G.1
Yao, Y.2
Liu, J.3
Yu, Z.4
Cheung, S.5
Xie, A.6
Liang, X.7
Bi, X.8
-
42
-
-
77949912882
-
Abnormal gene expression in cerebellum of Npc1-/-mice during postnatal development
-
Liao, G., Wen, Z., Irizarry, K., Huang, Y., Mitsouras, K., Darmani, M., Leon, T., Shi, L. and Bi, X. (2010). Abnormal gene expression in cerebellum of Npc1-/-mice during postnatal development. Brain Res. 1325, 128-140.
-
(2010)
Brain Res.
, vol.1325
, pp. 128-140
-
-
Liao, G.1
Wen, Z.2
Irizarry, K.3
Huang, Y.4
Mitsouras, K.5
Darmani, M.6
Leon, T.7
Shi, L.8
Bi, X.9
-
43
-
-
84855261963
-
Deficiency of a Niemann-Pick, type C1-related protein in toxoplasma is associated with multiple lipidoses and increased pathogenicity
-
Lige, B., Romano, J. D., Bandaru, V. V., Ehrenman, K., Levitskaya, J., Sampels, V., Haughey, N. J. and Coppens, I. (2011). Deficiency of a Niemann-Pick, type C1-related protein in toxoplasma is associated with multiple lipidoses and increased pathogenicity. PLoS Pathog. 7, e1002410.
-
(2011)
PLoS Pathog.
, vol.7
-
-
Lige, B.1
Romano, J.D.2
Bandaru, V.V.3
Ehrenman, K.4
Levitskaya, J.5
Sampels, V.6
Haughey, N.J.7
Coppens, I.8
-
44
-
-
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
-
45
-
-
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
-
46
-
-
0030768084
-
Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene
-
Loftus, S. K., Morris, J. A., Carstea, E. D., Gu, J. Z., Cummings, C., Brown, A., Ellison, J., Ohno, K., Rosenfeld, M. A., Tagle, D. A. et al. (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.A.9
Tagle, D.A.10
-
47
-
-
1842836379
-
Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene
-
Loftus, S. K., Erickson, R. P., Walkley, S. U., Bryant, M. A., Incao, A., Heidenreich, R. A. and Pavan, W. J. (2002). Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene. Hum. Mol. Genet. 11, 3107-3114.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3107-3114
-
-
Loftus, S.K.1
Erickson, R.P.2
Walkley, S.U.3
Bryant, M.A.4
Incao, A.5
Heidenreich, R.A.6
Pavan, W.J.7
-
48
-
-
37749020600
-
Descriptive epidemiology of amyotrophic lateral sclerosis: New evidence and unsolved issues
-
EURALS
-
Logroscino, G., Traynor, B. J., Hardiman, O., Chio', A., Couratier, P., Mitchell, J. D., Swingler, R. J., Beghi, E.; EURALS (2008). Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J. Neurol. Neurosurg. Psychiatry 79, 6-11.
-
(2008)
J. Neurol. Neurosurg. Psychiatry
, vol.79
, pp. 6-11
-
-
Logroscino, G.1
Traynor, B.J.2
Hardiman, O.3
Chio, A.4
Couratier, P.5
Mitchell, J.D.6
Swingler, R.J.7
Beghi, E.8
-
49
-
-
79952998335
-
Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder
-
Lopez, M. E., Klein, A. D., Dimbil, U. J. and Scott, M. P. (2011). Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder. J. Neurosci. 31, 4367-4378.
-
(2011)
J. Neurosci.
, vol.31
, pp. 4367-4378
-
-
Lopez, M.E.1
Klein, A.D.2
Dimbil, U.J.3
Scott, M.P.4
-
50
-
-
84866149223
-
Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
-
Lopez, M. E., Klein, A. D. and Scott, M. P. (2012a). Complement is dispensable for neurodegeneration in Niemann-Pick disease type C. J. Neuroinflammation 9, 216.
-
(2012)
J. Neuroinflammation
, vol.9
, pp. 216
-
-
Lopez, M.E.1
Klein, A.D.2
Scott, M.P.3
-
51
-
-
84863521004
-
Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C
-
Lopez, M. E., Klein, A. D., Hong, J., Dimbil, U. J. and Scott, M. P. (2012b). Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C. Hum. Mol. Genet. 21, 2946-2960.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 2946-2960
-
-
Lopez, M.E.1
Klein, A.D.2
Hong, J.3
Dimbil, U.J.4
Scott, M.P.5
-
52
-
-
84871184768
-
NPC1 defect results in abnormal platelet formation and function: Studies in Niemann-Pick disease type C1 patients and zebrafish
-
Louwette, S., Regal, L., Wittevrongel, C., Thys, C., Vandeweeghde, G., Decuyper, E., Leemans, P., De Vos, R., Van Geet, C., Jaeken, J. et al. (2013). NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. Hum. Mol. Genet. 22, 61-73.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 61-73
-
-
Louwette, S.1
Regal, L.2
Wittevrongel, C.3
Thys, C.4
Vandeweeghde, G.5
Decuyper, E.6
Leemans, P.7
De Vos, R.8
Van Geet, C.9
Jaeken, J.10
-
53
-
-
40249084139
-
Genetic dissection of neural circuits
-
Luo, L., Callaway, E. M. and Svoboda, K. (2008). Genetic dissection of neural circuits. Neuron 57, 634-660.
-
(2008)
Neuron
, vol.57
, pp. 634-660
-
-
Luo, L.1
Callaway, E.M.2
Svoboda, K.3
-
54
-
-
84863022173
-
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations
-
Maue, R. A., Burgess, R. W., Wang, B., Wooley, C. M., Seburn, K. L., Vanier, M. T., Rogers, M. A., Chang, C. C., Chang, T. Y., Harris, B. T. et al. (2012). A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. Hum. Mol. Genet. 21, 730-750.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 730-750
-
-
Maue, R.A.1
Burgess, R.W.2
Wang, B.3
Wooley, C.M.4
Seburn, K.L.5
Vanier, M.T.6
Rogers, M.A.7
Chang, C.C.8
Chang, T.Y.9
Harris, B.T.10
-
55
-
-
84879305031
-
Epidemiology of Alzheimer disease
-
2012, doi:10.1101/cshperspect.a006239
-
Mayeux, R. and Stern, Y. (2012). Epidemiology of Alzheimer disease. Cold Spring Harb. Perspect Med. 2012, doi:10.1101/cshperspect.a006239.
-
(2012)
Cold Spring Harb. Perspect Med.
-
-
Mayeux, R.1
Stern, Y.2
-
56
-
-
79960009804
-
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies
-
Mazzulli, J. R., Xu, Y. H., Sun, Y., Knight, A. L., McLean, P. J., Caldwell, G. A., Sidransky, E., Grabowski, G. A. and Krainc, D. (2011). Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146, 37-52.
-
(2011)
Cell
, vol.146
, pp. 37-52
-
-
Mazzulli, J.R.1
Xu, Y.H.2
Sun, Y.3
Knight, A.L.4
McLean, P.J.5
Caldwell, G.A.6
Sidransky, E.7
Grabowski, G.A.8
Krainc, D.9
-
57
-
-
79958104966
-
Evolutionary crossroads in developmental biology: Sea urchins
-
McClay, D. R. (2011). Evolutionary crossroads in developmental biology: sea urchins. Development 138, 2639-2648.
-
(2011)
Development
, vol.138
, pp. 2639-2648
-
-
McClay, D.R.1
-
58
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle, P. J., Hopwood, J. J., Clague, A. E. and Carey, W. F. (1999). Prevalence of lysosomal storage disorders. JAMA 281, 249-254.
-
(1999)
JAMA
, vol.281
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
59
-
-
0019977775
-
Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics
-
Morris, M. D., Bhuvaneswaran, C., Shio, H. and Fowler, S. (1982). Lysosome lipid 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.3
Fowler, S.4
-
60
-
-
79959861121
-
An 'exacerbate-reverse' strategy in yeast identifies histone deacetylase inhibition as a correction for cholesterol and sphingolipid transport defects in human Niemann-Pick type C disease
-
Munkacsi, A. B., Chen, F. W., Brinkman, M. A., Higaki, K., Gutiérrez, G. D., Chaudhari, J., Layer, J. V., Tong, A., Bard, M., Boone, C. et al. (2011). An 'exacerbate-reverse' strategy in yeast identifies histone deacetylase inhibition as a correction for cholesterol and sphingolipid transport defects in human Niemann-Pick type C disease. J. Biol. Chem. 286, 23842-23851.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 23842-23851
-
-
Munkacsi, A.B.1
Chen, F.W.2
Brinkman, M.A.3
Higaki, K.4
Gutiérrez, G.D.5
Chaudhari, J.6
Layer, J.V.7
Tong, A.8
Bard, M.9
Boone, C.10
-
61
-
-
34247475338
-
Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons
-
Nagai, M., Re, D. B., Nagata, T., Chalazonitis, A., Jessell, T. M., Wichterle, H. and Przedborski, S. (2007). Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons. Nat. Neurosci. 10, 615-622.
-
(2007)
Nat. Neurosci.
, vol.10
, pp. 615-622
-
-
Nagai, M.1
Re, D.B.2
Nagata, T.3
Chalazonitis, A.4
Jessell, T.M.5
Wichterle, H.6
Przedborski, S.7
-
62
-
-
0034704245
-
Identification of HE1 as the second gene of Niemann-Pick C disease
-
Naureckiene, S., Sleat, D. E., Lackland, H., Fensom, A., Vanier, M. T., Wattiaux, R., Jadot, M. and Lobel, P. (2000). Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290, 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
-
63
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M. et al. (2006). Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314, 130-133.
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
Truax, A.C.4
Micsenyi, M.C.5
Chou, T.T.6
Bruce, J.7
Schuck, T.8
Grossman, M.9
Clark, C.M.10
-
64
-
-
0002285597
-
Ein unbekanntes Krankheitsbild
-
Niemann, A. (1914). Ein unbekanntes Krankheitsbild. Jahrbuch für Kinderheilkunde 79, 1-10.
-
(1914)
Jahrbuch für Kinderheilkunde
, vol.79
, pp. 1-10
-
-
Niemann, A.1
-
65
-
-
84862796191
-
Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice
-
Nietupski, J. B., Pacheco, J. J., Chuang, W. L., Maratea, K., Li, L., Foley, J., Ashe, K. M., Cooper, C. G., Aerts, J. M., Copeland, D. P. et al. (2012). Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice. Mol. Genet. Metab. 105, 621-628.
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 621-628
-
-
Nietupski, J.B.1
Pacheco, J.J.2
Chuang, W.L.3
Maratea, K.4
Li, L.5
Foley, J.6
Ashe, K.M.7
Cooper, C.G.8
Aerts, J.M.9
Copeland, D.P.10
-
66
-
-
48249103491
-
Neurodegenerative lysosomal disorders: A continuum from development to late age
-
Nixon, R. A., Yang, D. S. and Lee, J. H. (2008). Neurodegenerative lysosomal disorders: a continuum from development to late age. Autophagy 4, 590-599.
-
(2008)
Autophagy
, vol.4
, pp. 590-599
-
-
Nixon, R.A.1
Yang, D.S.2
Lee, J.H.3
-
67
-
-
4344637102
-
Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain
-
Ohgami, N., Ko, D. C., Thomas, M., Scott, M. P., Chang, C. C. and Chang, T. Y. (2004). Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain. Proc. Natl. Acad. Sci. USA 101, 12473-12478.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 12473-12478
-
-
Ohgami, N.1
Ko, D.C.2
Thomas, M.3
Scott, M.P.4
Chang, C.C.5
Chang, T.Y.6
-
68
-
-
84861726112
-
Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1
-
Ordonez, M. P., Roberts, E. A., Kidwell, C. U., Yuan, S. H., Plaisted, W. C. and Goldstein, L. S. (2012). Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1. Hum. Mol. Genet. 21, 2651-2662.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 2651-2662
-
-
Ordonez, M.P.1
Roberts, E.A.2
Kidwell, C.U.3
Yuan, S.H.4
Plaisted, W.C.5
Goldstein, L.S.6
-
69
-
-
80053299096
-
Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology
-
Parra, J., Klein, A. D., Castro, J., Morales, M. G., Mosqueira, M., Valencia, I., Cortés, V., Rigotti, A. and Zanlungo, S. (2011). Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology. Biochem. Biophys. Res. Commun. 413, 400-406.
-
(2011)
Biochem. Biophys. Res. Commun.
, vol.413
, pp. 400-406
-
-
Parra, J.1
Klein, A.D.2
Castro, J.3
Morales, M.G.4
Mosqueira, M.5
Valencia, I.6
Cortés, V.7
Rigotti, A.8
Zanlungo, S.9
-
70
-
-
84883869595
-
Niemann-Pick disease type C
-
(ed. R. A. Pagon, T. D. Bird, C. R. Dolan, K. Stephens and M. P. Adam). Seattle, WA: University of Washington, Seattle
-
Patterson, M. (1993). Niemann-Pick disease type C. In GeneReviews (ed. R. A. Pagon, T. D. Bird, C. R. Dolan, K. Stephens and M. P. Adam). Seattle, WA: University of Washington, Seattle.
-
(1993)
GeneReviews
-
-
Patterson, M.1
-
71
-
-
27244456227
-
Adenovirus expressing an NPC1-GFP fusion gene corrects neuronal and nonneuronal defects associated with Niemann pick type C disease
-
Paul, C. A., Reid, P. C., Boegle, A. K., Karten, B., Zhang, M., Jiang, Z. G., Franz, D., Lin, L., Chang, T. Y., Vance, J. E. et al. (2005). Adenovirus expressing an NPC1-GFP fusion gene corrects neuronal and nonneuronal defects associated with Niemann pick type C disease. J. Neurosci. Res. 81, 706-719.
-
(2005)
J. Neurosci. Res.
, vol.81
, pp. 706-719
-
-
Paul, C.A.1
Reid, P.C.2
Boegle, A.K.3
Karten, B.4
Zhang, M.5
Jiang, Z.G.6
Franz, D.7
Lin, L.8
Chang, T.Y.9
Vance, J.E.10
-
72
-
-
4944263713
-
Niemann-Pick C research from mouse to gene
-
Pentchev, P. G. (2004). Niemann-Pick C research from mouse to gene. Biochim. Biophys. Acta 1685, 3-7.
-
(2004)
Biochim. Biophys. Acta
, vol.1685
, pp. 3-7
-
-
Pentchev, P.G.1
-
73
-
-
0022980841
-
The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease
-
Pentchev, P. G., Comly, M. E., Kruth, H. S., Patel, S., Proestel, M. and Weintroub, H. (1986). The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. J. Biol. Chem. 261, 2772-2777.
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 2772-2777
-
-
Pentchev, P.G.1
Comly, M.E.2
Kruth, H.S.3
Patel, S.4
Proestel, M.5
Weintroub, H.6
-
74
-
-
48549102737
-
Neuronal loss of Drosophila NPC1a causes cholesterol aggregation and ageprogressive neurodegeneration
-
Phillips, S. E., Woodruff, E. A., 3rd, Liang, P., Patten, M. and Broadie, K. (2008). Neuronal loss of Drosophila NPC1a causes cholesterol aggregation and ageprogressive neurodegeneration. J. Neurosci. 28, 6569-6582.
-
(2008)
J. Neurosci.
, vol.28
, pp. 6569-6582
-
-
Phillips, S.E.1
Woodruff III, E.A.2
Liang, P.3
Patten, M.4
Broadie, K.5
-
75
-
-
76649084357
-
Der morbus gaucher und die ihm ähnlichen krankheiten (die lipoidzellige splenohepatomegalie typus Niemann und die diabetische lipoidzellenhypoplasie der milz)
-
Pick, L. (1926). Der morbus gaucher und die ihm ähnlichen krankheiten (die lipoidzellige splenohepatomegalie typus Niemann und die diabetische lipoidzellenhypoplasie der milz). Ergebnisse der Inneren Medizin und Kinderheilkunde (Berlin) 29, 519-627.
-
(1926)
Ergebnisse der Inneren Medizin und Kinderheilkunde (Berlin)
, vol.29
, pp. 519-627
-
-
Pick, L.1
-
76
-
-
79953185674
-
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
-
Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Huelga, S. C., Moran, J., Liang, T. Y., Ling, S. C., Sun, E., Wancewicz, E., Mazur, C. et al. (2011). Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nat. Neurosci. 14, 459-468.
-
(2011)
Nat. Neurosci.
, vol.14
, pp. 459-468
-
-
Polymenidou, M.1
Lagier-Tourenne, C.2
Hutt, K.R.3
Huelga, S.C.4
Moran, J.5
Liang, T.Y.6
Ling, S.C.7
Sun, E.8
Wancewicz, E.9
Mazur, C.10
-
77
-
-
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. et al. (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
-
-
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
-
78
-
-
34250324909
-
Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling
-
Reddy, J. V., Ganley, I. G. and Pfeffer, S. R. (2006). Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling. PLoS ONE 1, e19.
-
(2006)
PLoS ONE
, vol.1
-
-
Reddy, J.V.1
Ganley, I.G.2
Pfeffer, S.R.3
-
79
-
-
0042163785
-
Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice
-
Reid, P. C., Sugii, S. and Chang, T. Y. (2003). Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice. J. Lipid Res. 44, 1010-1019.
-
(2003)
J. Lipid Res.
, vol.44
, pp. 1010-1019
-
-
Reid, P.C.1
Sugii, S.2
Chang, T.Y.3
-
80
-
-
33745291927
-
Cutting edge: Impaired glycosphingolipid trafficking and NKT cell development in mice lacking Niemann-Pick type C1 protein
-
Sagiv, Y., Hudspeth, K., Mattner, J., Schrantz, N., Stern, R. K., Zhou, D., Savage, P. B., Teyton, L. and Bendelac, A. (2006). Cutting edge: impaired glycosphingolipid trafficking and NKT cell development in mice lacking Niemann-Pick type C1 protein. J. Immunol. 177, 26-30.
-
(2006)
J. Immunol.
, vol.177
, pp. 26-30
-
-
Sagiv, Y.1
Hudspeth, K.2
Mattner, J.3
Schrantz, N.4
Stern, R.K.5
Zhou, D.6
Savage, P.B.7
Teyton, L.8
Bendelac, A.9
-
81
-
-
0035882468
-
Effects of progesterone synthesized de novo in the developing Purkinje cell on its dendritic growth and synaptogenesis
-
Sakamoto, H., Ukena, K. and Tsutsui, K. (2001). Effects of progesterone synthesized de novo in the developing Purkinje cell on its dendritic growth and synaptogenesis. J. Neurosci. 21, 6221-6232.
-
(2001)
J. Neurosci.
, vol.21
, pp. 6221-6232
-
-
Sakamoto, H.1
Ukena, K.2
Tsutsui, K.3
-
82
-
-
0037428937
-
Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease
-
Sarna, J. R., Larouche, M., Marzban, H., Sillitoe, R. V., Rancourt, D. E. and Hawkes, R. (2003). Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease. J. Comp. Neurol. 456, 279-291.
-
(2003)
J. Comp. Neurol.
, vol.456
, pp. 279-291
-
-
Sarna, J.R.1
Larouche, M.2
Marzban, H.3
Sillitoe, R.V.4
Rancourt, D.E.5
Hawkes, R.6
-
83
-
-
79960167259
-
Selective neuronal vulnerability in neurodegenerative diseases: From stressor thresholds to degeneration
-
Saxena, S. and Caroni, P. (2011). Selective neuronal vulnerability in neurodegenerative diseases: from stressor thresholds to degeneration. Neuron 71, 35-48.
-
(2011)
Neuron
, vol.71
, pp. 35-48
-
-
Saxena, S.1
Caroni, P.2
-
84
-
-
79959214673
-
Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish
-
Schwend, T., Loucks, E. J., Snyder, D. and Ahlgren, S. C. (2011). Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish. J. Lipid Res. 52, 1328-1344.
-
(2011)
J. Lipid Res.
, vol.52
, pp. 1328-1344
-
-
Schwend, T.1
Loucks, E.J.2
Snyder, D.3
Ahlgren, S.C.4
-
85
-
-
11144355005
-
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport
-
Sleat, D. E., Wiseman, J. A., El-Banna, M., Price, S. M., Verot, L., Shen, M. M., Tint, G. S., Vanier, M. T., Walkley, S. U. and Lobel, P. (2004). Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc. Natl. Acad. Sci. USA 101, 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
-
86
-
-
84871348271
-
Proteomic analysis of mouse models of Niemann-Pick C disease reveals alterations in the steady-state levels of lysosomal proteins within the brain
-
Sleat, D. E., Wiseman, J. A., Sohar, I., El-Banna, M., Zheng, H., Moore, D. F. and Lobel, P. (2012). Proteomic analysis of mouse models of Niemann-Pick C disease reveals alterations in the steady-state levels of lysosomal proteins within the brain. Proteomics 12, 3499-3509.
-
(2012)
Proteomics
, vol.12
, pp. 3499-3509
-
-
Sleat, D.E.1
Wiseman, J.A.2
Sohar, I.3
El-Banna, M.4
Zheng, H.5
Moore, D.F.6
Lobel, P.7
-
87
-
-
34547844237
-
Human NPC1L1 and NPC1 can functionally substitute for the ncr genes to promote reproductive development in C. Elegans
-
Smith, M. M. and Levitan, D. J. (2007). Human NPC1L1 and NPC1 can functionally substitute for the ncr genes to promote reproductive development in C. elegans. Biochim. Biophys. Acta 1770, 1345-1351.
-
(2007)
Biochim. Biophys. Acta
, vol.1770
, pp. 1345-1351
-
-
Smith, M.M.1
Levitan, D.J.2
-
88
-
-
0038278509
-
Mutation analysis of feline Niemann-Pick C1 disease
-
Somers, K. L., Royals, M. A., Carstea, E. D., Rafi, M. A., Wenger, D. A. and Thrall, M. A. (2003). Mutation analysis of feline Niemann-Pick C1 disease. Mol. Genet. Metab. 79, 99-103.
-
(2003)
Mol. Genet. Metab.
, vol.79
, pp. 99-103
-
-
Somers, K.L.1
Royals, M.A.2
Carstea, E.D.3
Rafi, M.A.4
Wenger, D.A.5
Thrall, M.A.6
-
89
-
-
67749133886
-
Deficiency of niemann-pick type C-1 protein impairs release of human immunodeficiency virus type 1 and results in Gag accumulation in late endosomal/lysosomal compartments
-
Tang, Y., Leao, I. C., Coleman, E. M., Broughton, R. S. and Hildreth, J. E. (2009). Deficiency of niemann-pick type C-1 protein impairs release of human immunodeficiency virus type 1 and results in Gag accumulation in late endosomal/lysosomal compartments. J. Virol. 83, 7982-7995.
-
(2009)
J. Virol.
, vol.83
, pp. 7982-7995
-
-
Tang, Y.1
Leao, I.C.2
Coleman, E.M.3
Broughton, R.S.4
Hildreth, J.E.5
-
90
-
-
79953180492
-
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
-
Tollervey, J. R., Curk, T., Rogelj, B., Briese, M., Cereda, M., Kayikci, M., König, J., Hortobágyi, T., Nishimura, A. L., Zupunski, V. et al. (2011). Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. Nat. Neurosci. 14, 452-458.
-
(2011)
Nat. Neurosci.
, vol.14
, pp. 452-458
-
-
Tollervey, J.R.1
Curk, T.2
Rogelj, B.3
Briese, M.4
Cereda, M.5
Kayikci, M.6
König, J.7
Hortobágyi, T.8
Nishimura, A.L.9
Zupunski, V.10
-
91
-
-
84858662491
-
Optogenetic investigation of neural circuits underlying brain disease in animal models
-
Tye, K. M. and Deisseroth, K. (2012). Optogenetic investigation of neural circuits underlying brain disease in animal models. Nat. Rev. Neurosci. 13, 251-266.
-
(2012)
Nat. Rev. Neurosci.
, vol.13
, pp. 251-266
-
-
Tye, K.M.1
Deisseroth, K.2
-
92
-
-
0037675042
-
Incidence of Parkinson's disease: Variation by age, gender, and race/ethnicity
-
Van Den Eeden, S. K., Tanner, C. M., Bernstein, A. L., Fross, R. D., Leimpeter, A., Bloch, D. A. and Nelson, L. M. (2003). Incidence of Parkinson's disease: variation by age, gender, and race/ethnicity. Am. J. Epidemiol. 157, 1015-1022.
-
(2003)
Am. J. Epidemiol.
, vol.157
, pp. 1015-1022
-
-
Van Den Eeden, S.K.1
Tanner, C.M.2
Bernstein, A.L.3
Fross, R.D.4
Leimpeter, A.5
Bloch, D.A.6
Nelson, L.M.7
-
93
-
-
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
-
94
-
-
84857080115
-
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier
-
Wöhlke, A., Philipp, U., Bock, P., Beineke, A., Lichtner, P., Meitinger, T. and Distl, O. (2011). A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PLoS Genet. 7, e1002304.
-
(2011)
PLoS Genet.
, vol.7
-
-
Wöhlke, A.1
Philipp, U.2
Bock, P.3
Beineke, A.4
Lichtner, P.5
Meitinger, T.6
Distl, O.7
-
95
-
-
0036303818
-
Genetically engineered mouse models of neurodegenerative diseases
-
Wong, P. C., Cai, H., Borchelt, D. R. and Price, D. L. (2002). Genetically engineered mouse models of neurodegenerative diseases. Nat. Neurosci. 5, 633-639.
-
(2002)
Nat. Neurosci.
, vol.5
, pp. 633-639
-
-
Wong, P.C.1
Cai, H.2
Borchelt, D.R.3
Price, D.L.4
-
96
-
-
79952619654
-
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models
-
Xu, Y. H., Sun, Y., Ran, H., Quinn, B., Witte, D. and Grabowski, G. A. (2011). Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol. Genet. Metab. 102, 436-447.
-
(2011)
Mol. Genet. Metab.
, vol.102
, pp. 436-447
-
-
Xu, Y.H.1
Sun, Y.2
Ran, H.3
Quinn, B.4
Witte, D.5
Grabowski, G.A.6
-
97
-
-
84876855611
-
Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin
-
Yu, T. and Lieberman, A. P. (2013). Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin. PLoS Genet. 9, e1003462.
-
(2013)
PLoS Genet.
, vol.9
-
-
Yu, T.1
Lieberman, A.P.2
-
98
-
-
15744378799
-
Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function
-
Yu, W., Gong, J. S., Ko, M., Garver, W. S., Yanagisawa, K. and Michikawa, M. (2005). Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function. J. Biol. Chem. 280, 11731-11739.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 11731-11739
-
-
Yu, W.1
Gong, J.S.2
Ko, M.3
Garver, W.S.4
Yanagisawa, K.5
Michikawa, M.6
-
99
-
-
80054918963
-
Temporal and cellspecific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration
-
Yu, T., Shakkottai, V. G., Chung, C. and Lieberman, A. P. (2011). Temporal and cellspecific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration. Hum. Mol. Genet. 20, 4440-4451.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 4440-4451
-
-
Yu, T.1
Shakkottai, V.G.2
Chung, C.3
Lieberman, A.P.4
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