-
1
-
-
84895076455
-
Heterogeneity and frequency of movement disorders injuvenile and adult-onset Niemann-Pick C disease
-
Anheim M., Lagha-Boukbiza O., Fleury-Lesaunier M.C., Valenti-Hirsch M.P., Hirsch E., Gervais-Bernard H., et al. Heterogeneity and frequency of movement disorders injuvenile and adult-onset Niemann-Pick C disease. Journal of Neurology 2014, 261:174-179.
-
(2014)
Journal of Neurology
, vol.261
, pp. 174-179
-
-
Anheim, M.1
Lagha-Boukbiza, O.2
Fleury-Lesaunier, M.C.3
Valenti-Hirsch, M.P.4
Hirsch, E.5
Gervais-Bernard, H.6
-
2
-
-
1842314819
-
Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes
-
Blanchette-Mackie E.J., Dwyer N.K., Amende L.M., Kruth H.S., Butler J.D., Sokol J., et al. Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. Proceedings of the National Academy of Sciences of United States of America 1988, 85:8022-8026.
-
(1988)
Proceedings of the National Academy of Sciences of United States of America
, vol.85
, pp. 8022-8026
-
-
Blanchette-Mackie, E.J.1
Dwyer, N.K.2
Amende, L.M.3
Kruth, H.S.4
Butler, J.D.5
Sokol, J.6
-
3
-
-
4744347394
-
Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein
-
Chikh K., Vey S., Simonot C., Vanier M.T., Millat G. Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein. Molecular Genetics and Metabolism 2004, 83:220-230.
-
(2004)
Molecular Genetics and Metabolism
, vol.83
, pp. 220-230
-
-
Chikh, K.1
Vey, S.2
Simonot, C.3
Vanier, M.T.4
Millat, G.5
-
4
-
-
79851476846
-
Regulation of the NPC2 protein-mediated cholesterol trafficking by membrane lipids
-
Gallala H.D., Breiden B., Sandhoff K. Regulation of the NPC2 protein-mediated cholesterol trafficking by membrane lipids. Journal of Neurochemistry 2011, 116:702-707.
-
(2011)
Journal of Neurochemistry
, vol.116
, pp. 702-707
-
-
Gallala, H.D.1
Breiden, B.2
Sandhoff, K.3
-
5
-
-
0020973547
-
Receptor-mediated endocytosis of low-density lipoprotein in cultured cells
-
Goldstein J.L., Basu S.K., Brown M.S. Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods in Enzymology 1983, 98:241-260.
-
(1983)
Methods in Enzymology
, vol.98
, pp. 241-260
-
-
Goldstein, J.L.1
Basu, S.K.2
Brown, M.S.3
-
6
-
-
33745026603
-
The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum
-
Havel R.J., Eder H.A., Bragdon J.H. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. Journal of Clinical Investigation 1955, 34:1345-1353.
-
(1955)
Journal of Clinical Investigation
, vol.34
, pp. 1345-1353
-
-
Havel, R.J.1
Eder, H.A.2
Bragdon, J.H.3
-
7
-
-
0022869016
-
Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts
-
Kruth H.S., Comly M.E., Butler J.D., Vanier M.T., Fink J.K., Wenger D.A., et al. Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts. Journal of Biological Chemistry 1986, 261:16769-16774.
-
(1986)
Journal of Biological Chemistry
, vol.261
, pp. 16769-16774
-
-
Kruth, H.S.1
Comly, M.E.2
Butler, J.D.3
Vanier, M.T.4
Fink, J.K.5
Wenger, D.A.6
-
8
-
-
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., et al. Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Cell 2009, 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
-
9
-
-
84856713971
-
Analysis of cholesterol trafficking with fluorescent probes
-
Maxfield F.R., Wüstner D. Analysis of cholesterol trafficking with fluorescent probes. Methods in Cell Biology 2012, 108:367-393.
-
(2012)
Methods in Cell Biology
, vol.108
, pp. 367-393
-
-
Maxfield, F.R.1
Wüstner, D.2
-
10
-
-
84906569581
-
Genetic and laboratory diagnostic approach in Niemann Pick disease type C
-
McKay Bounford K., Gissen P. Genetic and laboratory diagnostic approach in Niemann Pick disease type C. Journal of Neurology 2014, 261(Suppl. 2):569-575.
-
(2014)
Journal of Neurology
, vol.261
, pp. 569-575
-
-
McKay Bounford, K.1
Gissen, P.2
-
11
-
-
26244438721
-
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families
-
Millat G., Bailo N., Molinero S., Rodriguez C., Chikh K., Vanier M.T. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Molecular Genetics and Metabolism 2005, 86:220-232.
-
(2005)
Molecular Genetics and Metabolism
, vol.86
, pp. 220-232
-
-
Millat, G.1
Bailo, N.2
Molinero, S.3
Rodriguez, C.4
Chikh, K.5
Vanier, M.T.6
-
12
-
-
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
-
Millat G., Marçais C., Tomasetto C., Chikh K., Fensom A.H., Harzer K., et al. 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. American Journal of Human Genetics 2001, 68:1373-1385.
-
(2001)
American Journal of Human Genetics
, vol.68
, pp. 1373-1385
-
-
Millat, G.1
Marçais, C.2
Tomasetto, C.3
Chikh, K.4
Fensom, A.H.5
Harzer, K.6
-
13
-
-
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., et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 2000, 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
-
14
-
-
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., Wijburg F. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Molecular Genetics and Metabolism 2012, 106:330-344.
-
(2012)
Molecular Genetics and Metabolism
, 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
-
15
-
-
0000831301
-
Niemann-Pick disease type C: a lipid trafficking disorder
-
Mc Graw Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler (Eds.)
-
Patterson M.C., Vanier M.T., Suzuki K., Morris J.A., Carstea E.D., Neufeld E.B., et al. Niemann-Pick disease type C: a lipid trafficking disorder. The metabolic and molecular bases of inherited disease 2001, 3611-3634. Mc Graw Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler (Eds.).
-
(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
-
16
-
-
0027976761
-
The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol
-
Pentchev P.G., Brady R.O., Blanchette-Mackie E.J., Vanier M.T., Carstea E.D., Parker C.C., et al. The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. Biochimica et Biophysica Acta 1994, 1225:235-243.
-
(1994)
Biochimica et Biophysica Acta
, vol.1225
, pp. 235-243
-
-
Pentchev, P.G.1
Brady, R.O.2
Blanchette-Mackie, E.J.3
Vanier, M.T.4
Carstea, E.D.5
Parker, C.C.6
-
17
-
-
84906858707
-
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease
-
Platt F.M., Wassif C., Colaco A., Dardis A., Lloyd-Evans E., Bembi B., et al. Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease. Annual Review of Genomics and Human Genetics 2014, 15:173-194.
-
(2014)
Annual Review of Genomics and Human Genetics
, vol.15
, pp. 173-194
-
-
Platt, F.M.1
Wassif, C.2
Colaco, A.3
Dardis, A.4
Lloyd-Evans, E.5
Bembi, B.6
-
18
-
-
84908207916
-
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease
-
Sechi A., Dardis A., Zampieri S., Rabacchi C., Zanoni P., Calandra S., et al. Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease. Orphanet Journal of Rare Diseases 2014, 9:143.
-
(2014)
Orphanet Journal of Rare Diseases
, vol.9
, pp. 143
-
-
Sechi, A.1
Dardis, A.2
Zampieri, S.3
Rabacchi, C.4
Zanoni, P.5
Calandra, S.6
-
19
-
-
33845910402
-
The adult form of Niemann-Pick disease type C
-
Sevin M., Lesca G., Baumann N., Millat G., Lyon-Caen O., Vanier M.T., et al. The adult form of Niemann-Pick disease type C. Brain 2007, 130:120-133.
-
(2007)
Brain
, vol.130
, pp. 120-133
-
-
Sevin, M.1
Lesca, G.2
Baumann, N.3
Millat, G.4
Lyon-Caen, O.5
Vanier, M.T.6
-
20
-
-
0034987028
-
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1
-
Sun X., Marks D.L., Park W.D., Wheatley C.L., Puri V., O'Brien J.F., et al. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. American Journal of Human Genetics 2001, 68:1361-1372.
-
(2001)
American Journal of Human Genetics
, 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
-
21
-
-
79953312249
-
Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage
-
Tangemo C., Weber D., Theiss S., Mengel E., Runz H. Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. Journal of Lipid Research 2011, 52:813-825.
-
(2011)
Journal of Lipid Research
, vol.52
, pp. 813-825
-
-
Tangemo, C.1
Weber, D.2
Theiss, S.3
Mengel, E.4
Runz, H.5
-
22
-
-
84905033032
-
Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin
-
Vance J.E., Karten B. Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin. Journal of Lipid Research 2014, 55:1609-1621.
-
(2014)
Journal of Lipid Research
, vol.55
, pp. 1609-1621
-
-
Vance, J.E.1
Karten, B.2
-
25
-
-
0025777970
-
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
-
Vanier M.T., Rodriguez-Lafrasse C., Rousson R., Gazzah N., Juge M.C., Pentchev P.G., et al. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochimica et Biophysica Acta 1991, 1096:328-337.
-
(1991)
Biochimica et Biophysica 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
-
26
-
-
0026736134
-
Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk
-
Vanier M.T., Rodriguez-Lafrasse C., Rousson R., Mandon G., Boue J., Choiset A., et al. Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk. American Journal of Human Genetics 1992, 51:111-122.
-
(1992)
American Journal of Human Genetics
, vol.51
, pp. 111-122
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Mandon, G.4
Boue, J.5
Choiset, A.6
-
27
-
-
0031983861
-
Recent advances in elucidating Niemann-Pick C disease
-
Vanier M.T., Suzuki K. Recent advances in elucidating Niemann-Pick C disease. Brain Pathology 1998, 8:163-174.
-
(1998)
Brain Pathology
, vol.8
, pp. 163-174
-
-
Vanier, M.T.1
Suzuki, K.2
-
28
-
-
30844436109
-
Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation
-
Willenborg M., Schmidt C.K., Braun P., Landgrebe J., von Figura K., Saftig P., et al. Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation. Journal of Lipid Research 2005, 46:2559-2569.
-
(2005)
Journal of Lipid Research
, vol.46
, pp. 2559-2569
-
-
Willenborg, M.1
Schmidt, C.K.2
Braun, P.3
Landgrebe, J.4
von Figura, K.5
Saftig, P.6
-
29
-
-
84862979366
-
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
-
Wortmann S.B., Vaz F.M., Gardeitchik T., Vissers L.E., Renkema G.H., Schuurs-Hoeijmakers J.H., et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nature Genetics 2012, 44:797-802.
-
(2012)
Nature Genetics
, vol.44
, pp. 797-802
-
-
Wortmann, S.B.1
Vaz, F.M.2
Gardeitchik, T.3
Vissers, L.E.4
Renkema, G.H.5
Schuurs-Hoeijmakers, J.H.6
-
30
-
-
0035142802
-
Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
-
Zervas M., Dobrenis K., Walkley S.U. Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. Journal of Neuropathology & Experimental Neurology 2001, 60:49-64.
-
(2001)
Journal of Neuropathology & Experimental Neurology
, vol.60
, pp. 49-64
-
-
Zervas, M.1
Dobrenis, K.2
Walkley, S.U.3
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