-
1
-
-
0031973893
-
Cellular pathology of lysosomal storage disorders
-
S. U. Walkley, Cellular pathology of lysosomal storage disorders, Brain Pathol 8: 175-193 (1998).
-
(1998)
Brain Pathol
, vol.8
, pp. 175-193
-
-
Walkley, S.U.1
-
2
-
-
77956057420
-
Clinical aspects of neuropathic lysosomal storage disorders
-
L. B. Jardim, M. M. Villanueva, C. F. de Souza and C. B. Netto, Clinical aspects of neuropathic lysosomal storage disorders, J Inherit Metab Dis 33: 315-329 (2010).
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 315-329
-
-
Jardim, L.B.1
Villanueva, M.M.2
De Souza, C.F.3
Netto, C.B.4
-
3
-
-
0029914688
-
Apolipoprotein E and Alzheimer’s disease
-
W. J. Strittmatter and A. D. Roses, Apolipoprotein E and Alzheimer’s disease, Annu Rev Neurosci 19: 53-77 (1996).
-
(1996)
Annu Rev Neurosci
, vol.19
, pp. 53-77
-
-
Strittmatter, W.J.1
Roses, A.D.2
-
4
-
-
79960961365
-
Clarifying lysosomal storage diseases
-
M. L. Schultz, L. Tecedor, M. Chang and B. L. Davidson, Clarifying lysosomal storage diseases, Trends Neurosci 34: 401-410 (2011).
-
(2011)
Trends Neurosci
, vol.34
, pp. 401-410
-
-
Schultz, M.L.1
Tecedor, L.2
Chang, M.3
Davidson, B.L.4
-
5
-
-
0036364455
-
The neuronal ceroid lipofuscinoses: Mutations in different proteins result in similar disease
-
J. M. Weimer, E. Kriscenski-Perry, Y. Elshatory and D. A. Pearce, The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease, Neuromolecular Med 1: 111-124 (2002).
-
(2002)
Neuromolecular Med
, vol.1
, pp. 111-124
-
-
Weimer, J.M.1
Kriscenski-Perry, E.2
Elshatory, Y.3
Pearce, D.A.4
-
6
-
-
33745192802
-
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
-
T. Hara, K. Nakamura, M. Matsui, A. Yamamoto, Y. Nakahara, R. Suzuki-Migishima, M. Yokoyama, K. Mishima, I. Saito, H. Okano and N. Mizushima, Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice, Nature 441: 885-889 (2006).
-
(2006)
Nature
, vol.441
, pp. 885-889
-
-
Hara, T.1
Nakamura, K.2
Matsui, M.3
Yamamoto, A.4
Nakahara, Y.5
Suzuki-Migishima, R.6
Yokoyama, M.7
Mishima, K.8
Saito, I.9
Okano, H.10
Mizushima, N.11
-
7
-
-
33745976466
-
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
-
Y. Cao, J. A. Espinola, E. Fossale, A. C. Massey, A. M. Cuervo, M. E. MacDonald and S. L. Cotman, Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis, J Biol Chem 281: 20483-20493 (2006).
-
(2006)
J Biol Chem
, vol.281
, pp. 20483-20493
-
-
Cao, Y.1
Espinola, J.A.2
Fossale, E.3
Massey, A.C.4
Cuervo, A.M.5
Macdonald, M.E.6
Cotman, S.L.7
-
8
-
-
79955075253
-
Macroautophagy is defective in mucolipin-1-deficient mouse neurons
-
C. Curcio-Morelli, F. A. Charles, M. C. Micsenyi, Y. Cao, B. Venugopal, M. F. Browning, K. Dobrenis, S. L. Cotman, S. U. Walkley and S. A. Slaugenhaupt, Macroautophagy is defective in mucolipin-1-deficient mouse neurons, Neurobiol Dis 40: 370-377 (2010).
-
(2010)
Neurobiol Dis
, vol.40
, pp. 370-377
-
-
Curcio-Morelli, C.1
Charles, F.A.2
Micsenyi, M.C.3
Cao, Y.4
Venugopal, B.5
Browning, M.F.6
Dobrenis, K.7
Cotman, S.L.8
Walkley, S.U.9
Slaugenhaupt, S.A.10
-
9
-
-
34447302577
-
Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects
-
C. D. Pacheco, R. Kunkel and A. P. Lieberman, Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects, Hum Mol Genet 16: 1495-1503 (2007).
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1495-1503
-
-
Pacheco, C.D.1
Kunkel, R.2
Lieberman, A.P.3
-
10
-
-
33645776188
-
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease
-
T. Fukuda, L. Ewan, M. Bauer, R. J. Mattaliano, K. Zaal, E. Ralston, P. H. Plotz and N. Raben, Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease, Ann Neurol 59: 700-708 (2006).
-
(2006)
Ann Neurol
, vol.59
, pp. 700-708
-
-
Fukuda, T.1
Ewan, L.2
Bauer, M.3
Mattaliano, R.J.4
Zaal, K.5
Ralston, E.6
Plotz, P.H.7
Raben, N.8
-
11
-
-
33846022005
-
Jr. J. H. Zhu, Y. Rbaibi, X. Luo, C. T. Chu and K. Kiselyov, Mitochondrial aberrations in mucolipidosis Type IV
-
J. J. Jennings, Jr., J. H. Zhu, Y. Rbaibi, X. Luo, C. T. Chu and K. Kiselyov, Mitochondrial aberrations in mucolipidosis Type IV, J Biol Chem 281: 39041-39050 (2006).
-
(2006)
J Biol Chem
, vol.281
, pp. 39041-39050
-
-
Jennings, J.J.1
-
12
-
-
51349125291
-
Neuronal apoptosis and autophagy cross talk in aging PS/APP mice, a model of Alzheimer’s disease
-
D. S. Yang, A. Kumar, P. Stavrides, J. Peterson, C. M. Peterhoff, M. Pawlik, E. Levy, A. M. Cataldo and R. A. Nixon, Neuronal apoptosis and autophagy cross talk in aging PS/APP mice, a model of Alzheimer’s disease, Am J Pathol 173: 665-681 (2008).
-
(2008)
Am J Pathol
, vol.173
, pp. 665-681
-
-
Yang, D.S.1
Kumar, A.2
Stavrides, P.3
Peterson, J.4
Peterhoff, C.M.5
Pawlik, M.6
Levy, E.7
Cataldo, A.M.8
Nixon, R.A.9
-
13
-
-
36249025723
-
Autophagy: Process and function
-
N. Mizushima, Autophagy: process and function, Genes Dev 21: 2861-2873 (2007).
-
(2007)
Genes Dev
, vol.21
, pp. 2861-2873
-
-
Mizushima, N.1
-
14
-
-
79961106527
-
There is more to autophagy than induction: Regulating the roller coaster
-
D. J. Klionsky and A. Nemchenko, There is more to autophagy than induction: regulating the roller coaster, Autophagy 7: 801-802 (2011).
-
(2011)
Autophagy
, vol.7
, pp. 801-802
-
-
Klionsky, D.J.1
Nemchenko, A.2
-
15
-
-
37649005234
-
Autophagy in the pathogenesis of disease
-
B. Levine and G. Kroemer, Autophagy in the pathogenesis of disease, Cell 132: 27-42 (2008).
-
(2008)
Cell
, vol.132
, pp. 27-42
-
-
Levine, B.1
Kroemer, G.2
-
16
-
-
8344242220
-
Autophagy in health and disease: A double-edged sword
-
T. Shintani and D. J. Klionsky, Autophagy in health and disease: a double-edged sword, Science 306: 990-995 (2004).
-
(2004)
Science
, vol.306
, pp. 990-995
-
-
Shintani, T.1
Klionsky, D.J.2
-
17
-
-
34548265278
-
Autophagy and human disease
-
J. Huang and D. J. Klionsky, Autophagy and human disease, Cell Cycle 6: 1837-1849 (2007).
-
(2007)
Cell Cycle
, vol.6
, pp. 1837-1849
-
-
Huang, J.1
Klionsky, D.J.2
-
18
-
-
80051699683
-
Combining an EGFR directed tyrosine kinase inhibitor with autophagy-inducing drugs: A beneficial strategy to combat non-small cell lung cancer
-
Y. Gorzalczany, Y. Gilad, D. Amihai, I. Hammel, R. Sagi-Eisenberg and O. Merimsky, Combining an EGFR directed tyrosine kinase inhibitor with autophagy-inducing drugs: a beneficial strategy to combat non-small cell lung cancer, Cancer Lett 310: 207-215 (2011).
-
(2011)
Cancer Lett
, vol.310
, pp. 207-215
-
-
Gorzalczany, Y.1
Gilad, Y.2
Amihai, D.3
Hammel, I.4
Sagi-Eisenberg, R.5
Merimsky, O.6
-
19
-
-
79960635284
-
Fighting neurodegeneration with rapamy-cin: Mechanistic insights
-
J. Bove, M. Martinez-Vicente and M. Vila, Fighting neurodegeneration with rapamy-cin: mechanistic insights, Nat Rev Neurosci 12: 437-452 (2011).
-
(2011)
Nat Rev Neurosci
, vol.12
, pp. 437-452
-
-
Bove, J.1
Martinez-Vicente, M.2
Vila, M.3
-
20
-
-
80052801111
-
Autophagy as a therapeutic target in cardiovascular disease
-
A. Nemchenko, M. Chiong, A. Turer, S. Lavandero and J. A. Hill, Autophagy as a therapeutic target in cardiovascular disease, J Mol Cell Cardiol 51: 584-593 (2011).
-
(2011)
J Mol Cell Cardiol
, vol.51
, pp. 584-593
-
-
Nemchenko, A.1
Chiong, M.2
Turer, A.3
Lavandero, S.4
Hill, J.A.5
-
21
-
-
77956514970
-
Early autophagic response in a novel knock-in model of Huntington disease
-
M. Y. Heng, D. K. Duong, R. L. Albin, S. J. Tallaksen-Greene, J. M. Hunter, M. J. Lesort, A. Osmand, H. L. Paulson and P. J. Detloff, Early autophagic response in a novel knock-in model of Huntington disease, Hum Mol Genet 19: 3702-3720 (2010).
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3702-3720
-
-
Heng, M.Y.1
Duong, D.K.2
Albin, R.L.3
Tallaksen-Greene, S.J.4
Hunter, J.M.5
Lesort, M.J.6
Osmand, A.7
Paulson, H.L.8
Detloff, P.J.9
-
23
-
-
0001719387
-
Histologische Studien uber die senile Demenz
-
eds. F. Nissl and A. Alzheimer (Fischer, Jena
-
T. Simchowicz, Histologische Studien uber die senile Demenz. In: Histologie and Histopathologische Arbeiten uber die Grosshirnrinde, Vol. IV, eds. F. Nissl and A. Alzheimer (Fischer, Jena, 1911), pp. 267-444.
-
(1911)
Histologie and Histopathologische Arbeiten Uber Die Grosshirnrinde
, vol.4
, pp. 267-444
-
-
Simchowicz, T.1
-
24
-
-
14844303381
-
Extensive involvement of autophagy in Alzheimer disease: An immuno-electron microscopy study
-
R. A. Nixon, J. Wegiel, A. Kumar, W. H. Yu, C. Peterhoff, A. Cataldo and A. M. Cuervo, Extensive involvement of autophagy in Alzheimer disease: an immuno-electron microscopy study, J Neuropathol Exp Neurol 64: 113-122 (2005).
-
(2005)
J Neuropathol Exp Neurol
, vol.64
, pp. 113-122
-
-
Nixon, R.A.1
Wegiel, J.2
Kumar, A.3
Yu, W.H.4
Peterhoff, C.5
Cataldo, A.6
Cuervo, A.M.7
-
25
-
-
49049096562
-
Autophagy induction and autophagosome clearance in neurons: Relationship to autophagic pathology in Alzheimer’s disease
-
B. Boland, A. Kumar, S. Lee, F. M. Platt, J. Wegiel, W. H. Yu and R. A. Nixon, Autophagy induction and autophagosome clearance in neurons: relationship to autophagic pathology in Alzheimer’s disease, J Neurosci 28: 6926-6937 (2008).
-
(2008)
J Neurosci
, vol.28
, pp. 6926-6937
-
-
Boland, B.1
Kumar, A.2
Lee, S.3
Platt, F.M.4
Wegiel, J.5
Yu, W.H.6
Nixon, R.A.7
-
26
-
-
82855181986
-
Primary lysosomal dysfunction causes cargo-specific deficits of axonal transport leading to Alzheimer’s-like neuritic dystrophy
-
S. Y. Lee and R. A. Nixon, Primary lysosomal dysfunction causes cargo-specific deficits of axonal transport leading to Alzheimer’s-like neuritic dystrophy, Autophagy 7: 1562-1563 (2011).
-
(2011)
Autophagy
, vol.7
, pp. 1562-1563
-
-
Lee, S.Y.1
Nixon, R.A.2
-
27
-
-
0037062449
-
Neuronal loss and brain atrophy in mice lacking cathepsins B and L
-
USA
-
U. Felbor, B. Kessler, W. Mothes, H. H. Goebel, H. L. Ploegh, R. T. Bronson and B. R. Olsen, Neuronal loss and brain atrophy in mice lacking cathepsins B and L, Proc Natl Acad Sci USA 99: 7883-7888 (2002).
-
(2002)
Proc Natl Acad Sci
, vol.99
, pp. 7883-7888
-
-
Felbor, U.1
Kessler, B.2
Mothes, W.3
Goebel, H.H.4
Ploegh, H.L.5
Bronson, R.T.6
Olsen, B.R.7
-
28
-
-
28244493702
-
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease)
-
M. Koike, M. Shibata, S. Waguri, K. Yoshimura, I. Tanida, E. Kominami, T. Gotow, C. Peters, K. von Figura, N. Mizushima, P. Saftig and Y. Uchiyama, Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease), Am J Pathol 167: 1713-1728 (2005).
-
(2005)
Am J Pathol
, vol.167
, pp. 1713-1728
-
-
Koike, M.1
Shibata, M.2
Waguri, S.3
Yoshimura, K.4
Tanida, I.5
Kominami, E.6
Gotow, T.7
Peters, C.8
Von Figura, K.9
Mizushima, N.10
Saftig, P.11
Uchiyama, Y.12
-
29
-
-
79957663035
-
Lysosomal proteolysis inhibition selectively disrupts axonal transport of degradative organelles and causes an Alzheimer’s-like axonal dystrophy
-
S. Lee, Y. Sato and R. A. Nixon, Lysosomal proteolysis inhibition selectively disrupts axonal transport of degradative organelles and causes an Alzheimer’s-like axonal dystrophy, J Neurosci 31: 7817-7830 (2011).
-
(2011)
J Neurosci
, vol.31
, pp. 7817-7830
-
-
Lee, S.1
Sato, Y.2
Nixon, R.A.3
-
30
-
-
78650716872
-
Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer’s disease ameliorates amyloid pathologies and memory deficits
-
D. S. Yang, P. Stavrides, P. S. Mohan, S. Kaushik, A. Kumar, M. Ohno, S. D. Schmidt, D. Wesson, U. Bandyopadhyay, Y. Jiang, M. Pawlik, C. M. Peterhoff, A. J. Yang, D. A. Wilson, P. St George-Hyslop, D. Westaway, P. M. Mathews, E. Levy, A. M. Cuervo and R. A. Nixon, Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer’s disease ameliorates amyloid pathologies and memory deficits, Brain 134: 258-277 (2011).
-
(2011)
Brain
, vol.134
, pp. 258-277
-
-
Yang, D.S.1
Stavrides, P.2
Mohan, P.S.3
Kaushik, S.4
Kumar, A.5
Ohno, M.6
Schmidt, S.D.7
Wesson, D.8
Bandyopadhyay, U.9
Jiang, Y.10
Pawlik, M.11
Peterhoff, C.M.12
Yang, A.J.13
Wilson, D.A.14
St George-Hyslop, P.15
Westaway, D.16
Mathews, P.M.17
Levy, E.18
Cuervo, A.M.19
Nixon, R.A.20
more..
-
31
-
-
79958694159
-
Protective effects of positive lysosomal modulation in Alzheimer’s disease transgenic mouse models
-
D. Butler, J. Hwang, C. Estick, A. Nishiyama, S. S. Kumar, C. Baveghems, H. B. Young-Oxendine, M. L. Wisniewski, A. Charalambides and B. A. Bahr, Protective effects of positive lysosomal modulation in Alzheimer’s disease transgenic mouse models, PLoS One 6: e20501 (2011).
-
(2011)
Plos One
, vol.6
-
-
Butler, D.1
Hwang, J.2
Estick, C.3
Nishiyama, A.4
Kumar, S.S.5
Baveghems, C.6
Young-Oxendine, H.B.7
Wisniewski, M.L.8
Charalambides, A.9
Bahr, B.A.10
-
32
-
-
53849106834
-
Cystatin C-cathepsin B axis regulates amyloid beta levels and associated neuronal deficits in an animal model of Alzheimer’s disease
-
B. Sun, Y. Zhou, B. Halabisky, I. Lo, S. H. Cho, S. Mueller-Steiner, N. Devidze, X. Wang, A. Grubb and L. Gan, Cystatin C-cathepsin B axis regulates amyloid beta levels and associated neuronal deficits in an animal model of Alzheimer’s disease, Neuron 60: 247-257 (2008).
-
(2008)
Neuron
, vol.60
, pp. 247-257
-
-
Sun, B.1
Zhou, Y.2
Halabisky, B.3
Lo, I.4
Cho, S.H.5
Mueller-Steiner, S.6
Devidze, N.7
Wang, X.8
Grubb, A.9
Gan, L.10
-
33
-
-
77953913051
-
Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations
-
J. H. Lee, W. H. Yu, A. Kumar, S. Lee, P. S. Mohan, C. M. Peterhoff, D. M. Wolfe, M. Martinez-Vicente, A. C. Massey, G. Sovak, Y. Uchiyama, D. Westaway, A. M. Cuervo and R. A. Nixon, Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations, Cell 141: 1146-1158 (2010).
-
(2010)
Cell
, vol.141
, pp. 1146-1158
-
-
Lee, J.H.1
Yu, W.H.2
Kumar, A.3
Lee, S.4
Mohan, P.S.5
Peterhoff, C.M.6
Wolfe, D.M.7
Martinez-Vicente, M.8
Massey, A.C.9
Sovak, G.10
Uchiyama, Y.11
Westaway, D.12
Cuervo, A.M.13
Nixon, R.A.14
-
34
-
-
33344475363
-
MEAD: An interdisciplinary study of the marine effects of atmospheric deposition in the Kattegat
-
L. Spokes, T. Jickells, K. Weston, B. G. Gustafsson, M. Johnsson, B. Liljebladh, D. Conley, C. Ambelas-Skjodth, J. Brandt, J. Carstensen, T. Christiansen, L. Frohn, G. Geernaert, O. Hertel, B. Jensen, C. Lundsgaard, S. Markager, W. Martinsen, B. Moller, B. Pedersen, K. Sauerberg, L. L. Sorensen, C. C. Hasager, A. M. Sempreviva, S. C. Pryor, S. W. Lund, S. Larsen, M. Tjernstrom, G. Svensson and M. Zagar, MEAD: an interdisciplinary study of the marine effects of atmospheric deposition in the Kattegat, Environ Pollut 140: 453-462 (2006).
-
(2006)
Environ Pollut
, vol.140
, pp. 453-462
-
-
Spokes, L.1
Jickells, T.2
Weston, K.3
Gustafsson, B.G.4
Johnsson, M.5
Liljebladh, B.6
Conley, D.7
Ambelas-Skjodth, C.8
Brandt, J.9
Carstensen, J.10
Christiansen, T.11
Frohn, L.12
Geernaert, G.13
Hertel, O.14
Jensen, B.15
Lundsgaard, C.16
Markager, S.17
Martinsen, W.18
Moller, B.19
Pedersen, B.20
Sauerberg, K.21
Sorensen, L.L.22
Hasager, C.C.23
Sempreviva, A.M.24
Pryor, S.C.25
Lund, S.W.26
Larsen, S.27
Tjernstrom, M.28
Svensson, G.29
Zagar, M.30
more..
-
35
-
-
58449101589
-
Abeta42-induced neurodegeneration via an age-dependent autophagic-lysosomal injury in Drosophila
-
D. Ling, H. J. Song, D. Garza, T. P. Neufeld and P. M. Salvaterra, Abeta42-induced neurodegeneration via an age-dependent autophagic-lysosomal injury in Drosophila, PLoS One 4: e4201 (2009).
-
(2009)
Plos One
, vol.4
-
-
Ling, D.1
Song, H.J.2
Garza, D.3
Neufeld, T.P.4
Salvaterra, P.M.5
-
36
-
-
33751034682
-
Aggregate-prone proteins are cleared from the cytosol by autophagy: Therapeutic implications
-
A. Williams, L. Jahreiss, S. Sarkar, S. Saiki, F. M. Menzies, B. Ravikumar and D. C. Rubinsztein, Aggregate-prone proteins are cleared from the cytosol by autophagy: therapeutic implications, Curr Top Dev Biol 76: 89-101 (2006).
-
(2006)
Curr Top Dev Biol
, vol.76
, pp. 89-101
-
-
Williams, A.1
Jahreiss, L.2
Sarkar, S.3
Saiki, S.4
Menzies, F.M.5
Ravikumar, B.6
Rubinsztein, D.C.7
-
37
-
-
31544454404
-
Rapamycin alleviates toxicity of different aggregate-prone proteins
-
Z. Berger, B. Ravikumar, F. M. Menzies, L. G. Oroz, B. R. Underwood, M. N. Pangalos, I. Schmitt, U. Wullner, B. O. Evert, C. J. O’Kane and D. C. Rubinsztein, Rapamycin alleviates toxicity of different aggregate-prone proteins, Hum Mol Genet 15: 433-442 (2006).
-
(2006)
Hum Mol Genet
, vol.15
, pp. 433-442
-
-
Berger, Z.1
Ravikumar, B.2
Menzies, F.M.3
Oroz, L.G.4
Underwood, B.R.5
Pangalos, M.N.6
Schmitt, I.7
Wullner, U.8
Evert, B.O.9
O’kane, C.J.10
Rubinsztein, D.C.11
-
38
-
-
34247161367
-
Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein
-
S. Sarkar, J. E. Davies, Z. Huang, A. Tunnacliffe and D. C. Rubinsztein, Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein, J Biol Chem 282: 5641-5652 (2007).
-
(2007)
J Biol Chem
, vol.282
, pp. 5641-5652
-
-
Sarkar, S.1
Davies, J.E.2
Huang, Z.3
Tunnacliffe, A.4
Rubinsztein, D.C.5
-
39
-
-
77956305343
-
Inhibition of mTOR by rapamycin abolishes cognitive deficits and reduces amyloid-beta levels in a mouse model of Alzheimer’s disease
-
P. Spilman, N. Podlutskaya, M. J. Hart, J. Debnath, O. Gorostiza, D. Bredesen, A. Richardson, R. Strong and V. Galvan, Inhibition of mTOR by rapamycin abolishes cognitive deficits and reduces amyloid-beta levels in a mouse model of Alzheimer’s disease, PLoS One 5: e9979 (2010).
-
(2010)
Plos One
, vol.5
-
-
Spilman, P.1
Podlutskaya, N.2
Hart, M.J.3
Debnath, J.4
Gorostiza, O.5
Bredesen, D.6
Richardson, A.7
Strong, R.8
Galvan, V.9
-
40
-
-
26444587508
-
Macroautophagy — a novel Beta-amyloid peptide-generating pathway activated in Alzheimer’s disease
-
W. H. Yu, A. M. Cuervo, A. Kumar, C. M. Peterhoff, S. D. Schmidt, J. H. Lee, P. S. Mohan, M. Mercken, M. R. Farmery, L. O. Tjernberg, Y. Jiang, K. Duff, Y. Uchiyama, J. Naslund, P. M. Mathews, A. M. Cataldo and R. A. Nixon, Macroautophagy — a novel Beta-amyloid peptide-generating pathway activated in Alzheimer’s disease, J Cell Biol 171: 87-98 (2005).
-
(2005)
J Cell Biol
, vol.171
, pp. 87-98
-
-
Yu, W.H.1
Cuervo, A.M.2
Kumar, A.3
Peterhoff, C.M.4
Schmidt, S.D.5
Lee, J.H.6
Mohan, P.S.7
Mercken, M.8
Farmery, M.R.9
Tjernberg, L.O.10
Jiang, Y.11
Duff, K.12
Uchiyama, Y.13
Naslund, J.14
Mathews, P.M.15
Cataldo, A.M.16
Nixon, R.A.17
-
41
-
-
76549096350
-
Alzheimer’s-related endosome dysfunction in Down syndrome is Abeta-independent but requires APP and is reversed by BACE-1 inhibition
-
USA
-
Y. Jiang, K. A. Mullaney, C. M. Peterhoff, S. Che, S. D. Schmidt, A. Boyer- Boiteau, S. D. Ginsberg, A. M. Cataldo, P. M. Mathews and R. A. Nixon, Alzheimer’s-related endosome dysfunction in Down syndrome is Abeta-independent but requires APP and is reversed by BACE-1 inhibition, Proc Natl Acad Sci USA 107: 1630-1635
-
Proc Natl Acad Sci
, vol.107
, pp. 1630-1635
-
-
Jiang, Y.1
Mullaney, K.A.2
Peterhoff, C.M.3
Che, S.4
Schmidt, S.D.5
Boyer- Boiteau, A.6
Ginsberg, S.D.7
Cataldo, A.M.8
Mathews, P.M.9
Nixon, R.A.10
-
42
-
-
0028947294
-
Gene expression and cellular content of cathepsin D in Alzheimer’s disease brain: Evidence for early up-regulation of the endosomal-lysosomal system
-
A. M. Cataldo, J. L. Barnett, S. A. Berman, J. Li, S. Quarless, S. Bursztajn, C. Lippa and R. A. Nixon, Gene expression and cellular content of cathepsin D in Alzheimer’s disease brain: evidence for early up-regulation of the endosomal-lysosomal system, Neuron 14: 671-680 (1995).
-
(1995)
Neuron
, vol.14
, pp. 671-680
-
-
Cataldo, A.M.1
Barnett, J.L.2
Berman, S.A.3
Li, J.4
Quarless, S.5
Bursztajn, S.6
Lippa, C.7
Nixon, R.A.8
-
43
-
-
0037077284
-
Apolipoprotein E4 potentiates amyloid beta peptide-induced lysosomal leakage and apoptosis in neuronal cells
-
Z. S. Ji, R. D. Miranda, Y. M. Newhouse, K. H. Weisgraber, Y. Huang and R. W. Mahley, Apolipoprotein E4 potentiates amyloid beta peptide-induced lysosomal leakage and apoptosis in neuronal cells, J Biol Chem 277: 21821-21828 (2002).
-
(2002)
J Biol Chem
, vol.277
, pp. 21821-21828
-
-
Ji, Z.S.1
Miranda, R.D.2
Newhouse, Y.M.3
Weisgraber, K.H.4
Huang, Y.5
Mahley, R.W.6
-
44
-
-
77953260583
-
Clathrin-dependent APP endocytosis and Abeta secretion are highly sensitive to the level of plasma membrane cholesterol
-
J. C. Cossec, A. Simon, C. Marquer, R. X. Moldrich, C. Leterrier, J. Rossier, C. Duyckaerts, Z. Lenkei and M. C. Potier, Clathrin-dependent APP endocytosis and Abeta secretion are highly sensitive to the level of plasma membrane cholesterol, Biochim Biophys Acta 1801: 846-852 (2010).
-
(2010)
Biochim Biophys Acta
, vol.1801
, pp. 846-852
-
-
Cossec, J.C.1
Simon, A.2
Marquer, C.3
Moldrich, R.X.4
Leterrier, C.5
Rossier, J.6
Duyckaerts, C.7
Lenkei, Z.8
Potier, M.C.9
-
45
-
-
0033869715
-
Endocytic pathway abnormalities precede amyloid beta deposition in sporadic Alzheimer’s disease and Down syndrome: Differential effects of APOE genotype and presenilin mutations
-
A. M. Cataldo, C. M. Peterhoff, J. C. Troncoso, T. Gomez-Isla, B. T. Hyman and R. A. Nixon, Endocytic pathway abnormalities precede amyloid beta deposition in sporadic Alzheimer’s disease and Down syndrome: differential effects of APOE genotype and presenilin mutations, Am J Pathol 157: 277-286 (2000).
-
(2000)
Am J Pathol
, vol.157
, pp. 277-286
-
-
Cataldo, A.M.1
Peterhoff, C.M.2
Troncoso, J.C.3
Gomez-Isla, T.4
Hyman, B.T.5
Nixon, R.A.6
-
46
-
-
51549106517
-
Structural studies of the transmembrane C-terminal domain of the amyloid precursor protein (APP): Does APP function as a cholesterol sensor?
-
A. J. Beel, C. K. Mobley, H. J. Kim, F. Tian, A. Hadziselimovic, B. Jap, J. H. Prestegard and C. R. Sanders, Structural studies of the transmembrane C-terminal domain of the amyloid precursor protein (APP): does APP function as a cholesterol sensor?, Biochemistry 47: 9428-9446 (2008).
-
(2008)
Biochemistry
, vol.47
, pp. 9428-9446
-
-
Beel, A.J.1
Mobley, C.K.2
Kim, H.J.3
Tian, F.4
Hadziselimovic, A.5
Jap, B.6
Prestegard, J.H.7
Sanders, C.R.8
-
47
-
-
48249095748
-
Down syndrome fibroblast model of Alzheimer-related endosome pathology: Accelerated endocytosis promotes late endocytic defects
-
A. M. Cataldo, P. M. Mathews, A. B. Boiteau, L. C. Hassinger, C. M. Peterhoff, Y. Jiang, K. Mullaney, R. L. Neve, J. Gruenberg and R. A. Nixon, Down syndrome fibroblast model of Alzheimer-related endosome pathology: accelerated endocytosis promotes late endocytic defects, Am J Pathol 173: 370-384 (2008).
-
(2008)
Am J Pathol
, vol.173
, pp. 370-384
-
-
Cataldo, A.M.1
Mathews, P.M.2
Boiteau, A.B.3
Hassinger, L.C.4
Peterhoff, C.M.5
Jiang, Y.6
Mullaney, K.7
Neve, R.L.8
Gruenberg, J.9
Nixon, R.A.10
-
48
-
-
57649195400
-
Autophagy and multivesicular bodies: Two closely related partners
-
C. M. Fader and M. I. Colombo, Autophagy and multivesicular bodies: two closely related partners, Cell Death Differ 16: 70-78 (2009).
-
(2009)
Cell Death Differ
, vol.16
, pp. 70-78
-
-
Fader, C.M.1
Colombo, M.I.2
-
49
-
-
0024299286
-
Prelysosomal convergence of autophagic and endocytic pathways
-
P. B. Gordon and P. O. Seglen, Prelysosomal convergence of autophagic and endocytic pathways, Biochem Biophys Res Commun 151: 40-47 (1988).
-
(1988)
Biochem Biophys Res Commun
, vol.151
, pp. 40-47
-
-
Gordon, P.B.1
Seglen, P.O.2
-
50
-
-
79955969705
-
Autophagy failure in Alzheimer’s disease-locating the primary defect
-
R. A. Nixon and D. S. Yang, Autophagy failure in Alzheimer’s disease-locating the primary defect, Neurobiol Dis 43: 38-45 (2011).
-
(2011)
Neurobiol Dis
, vol.43
, pp. 38-45
-
-
Nixon, R.A.1
Yang, D.S.2
-
51
-
-
79955969705
-
Autophagy failure in Alzheimer’s disease-locating the primary defect
-
R. A. Nixon and D. S. Yang, Autophagy failure in Alzheimer’s disease-locating the primary defect, Neurobiol Dis 43: 38-45 (2011).
-
(2011)
Neurobiol Dis
, vol.43
, pp. 38-45
-
-
Nixon, R.A.1
Yang, D.S.2
-
52
-
-
79957941744
-
Suppression of autophagy and activation of glycogen synthase kinase 3beta facilitate the aggregate formation of tau
-
S. I. Kim, W. K. Lee, S. S. Kang, S. Y. Lee, M. J. Jeong, H. J. Lee, S. S. Kim, G. V. Johnson and W. Chun, Suppression of autophagy and activation of glycogen synthase kinase 3beta facilitate the aggregate formation of tau, Korean J Physiol Pharmacol 15: 107-114 (2011).
-
(2011)
Korean J Physiol Pharmacol
, vol.15
, pp. 107-114
-
-
Kim, S.I.1
Lee, W.K.2
Kang, S.S.3
Lee, S.Y.4
Jeong, M.J.5
Lee, H.J.6
Kim, S.S.7
Johnson, G.V.8
Chun, W.9
-
53
-
-
77951227122
-
Molecular interplay between mammalian target of rapamycin (MTOR), amyloid-beta, and Tau: Effects on cognitive impairments
-
A. Caccamo, S. Majumder, A. Richardson, R. Strong and S. Oddo, Molecular interplay between mammalian target of rapamycin (mTOR), amyloid-beta, and Tau: effects on cognitive impairments, J Biol Chem 285: 13107-13120 (2010).
-
(2010)
J Biol Chem
, vol.285
, pp. 13107-13120
-
-
Caccamo, A.1
Majumder, S.2
Richardson, A.3
Strong, R.4
Oddo, S.5
-
54
-
-
4344659685
-
Impaired degradation of mutant a-synuclein by chaperone-mediated autophagy
-
A. M. Cuervo, L. Stefanis, R. Fredenburg, P. T. Lansbury and D. Sulzer, Impaired degradation of mutant a-synuclein by chaperone-mediated autophagy, Science 305: 1292-1295 (2004).
-
(2004)
Science
, vol.305
, pp. 1292-1295
-
-
Cuervo, A.M.1
Stefanis, L.2
Fredenburg, R.3
Lansbury, P.T.4
Sulzer, D.5
-
55
-
-
77749319356
-
Harnessing chaperone-mediated autophagy for the selective degradation of mutant huntingtin protein
-
P. O. Bauer, A. Goswami, H. K. Wong, M. Okuno, M. Kurosawa, M. Yamada, H. Miyazaki, G. Matsumoto, Y. Kino, Y. Nagai and N. Nukina, Harnessing chaperone-mediated autophagy for the selective degradation of mutant huntingtin protein, Nat Biotechnol 28: 256-263 (2010).
-
(2010)
Nat Biotechnol
, vol.28
, pp. 256-263
-
-
Bauer, P.O.1
Goswami, A.2
Wong, H.K.3
Okuno, M.4
Kurosawa, M.5
Yamada, M.6
Miyazaki, H.7
Matsumoto, G.8
Kino, Y.9
Nagai, Y.10
Nukina, N.11
-
56
-
-
67650730435
-
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9
-
Y. Wang, J. C. Groppe, J. Wu, T. Ogawa, G. Mues, R. N. D’Souza and H. Kapadia, Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9, Hum Mol Genet 18: 2863-2874 (2009).
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2863-2874
-
-
Wang, Y.1
Groppe, J.C.2
Wu, J.3
Ogawa, T.4
Mues, G.5
D’souza, R.N.6
Kapadia, H.7
-
57
-
-
79954422997
-
Chaperone-mediated autophagy in protein quality control
-
E. Arias and A. M. Cuervo, Chaperone-mediated autophagy in protein quality control, Curr Opin Cell Biol 23: 184-189 (2011).
-
(2011)
Curr Opin Cell Biol
, vol.23
, pp. 184-189
-
-
Arias, E.1
Cuervo, A.M.2
-
58
-
-
70349987102
-
Tau fragmentation, aggregation and clearance: The dual role of lysosomal processing
-
Y. Wang, M. Martinez-Vicente, U. Kruger, S. Kaushik, E. Wong, E. M. Mandelkow, A. M. Cuervo and E. Mandelkow, Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing, Hum Mol Genet 18: 4153-4170 (2009).
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4153-4170
-
-
Wang, Y.1
Martinez-Vicente, M.2
Kruger, U.3
Kaushik, S.4
Wong, E.5
Mandelkow, E.M.6
Cuervo, A.M.7
Mandelkow, E.8
-
59
-
-
33846702991
-
Autophagy, organelles and ageing
-
A. Terman, B. Gustafsson and U. T. Brunk, Autophagy, organelles and ageing, J Pathol 211: 134-143 (2007).
-
(2007)
J Pathol
, vol.211
, pp. 134-143
-
-
Terman, A.1
Gustafsson, B.2
Brunk, U.T.3
-
60
-
-
59649088562
-
Monitoring autophagy in Alzheimer’s disease and related neurodegenerative diseases
-
D. S. Yang, J. H. Lee and R. A. Nixon, Monitoring autophagy in Alzheimer’s disease and related neurodegenerative diseases, Methods Enzymol 453: 111-144 (2009).
-
(2009)
Methods Enzymol
, vol.453
, pp. 111-144
-
-
Yang, D.S.1
Lee, J.H.2
Nixon, R.A.3
-
61
-
-
28544435485
-
Lysosomes and autophagy in cell death control
-
G. Kroemer and M. Jaattela, Lysosomes and autophagy in cell death control, Nat Rev Cancer 5: 886-897 (2005).
-
(2005)
Nat Rev Cancer
, vol.5
, pp. 886-897
-
-
Kroemer, G.1
Jaattela, M.2
-
62
-
-
0043238675
-
The biochemistry of neuronal necrosis: Rogue biology?
-
P. Syntichaki and N. Tavernarakis, The biochemistry of neuronal necrosis: rogue biology? Nat Rev Neurosci 4: 672-684 (2003).
-
(2003)
Nat Rev Neurosci
, vol.4
, pp. 672-684
-
-
Syntichaki, P.1
Tavernarakis, N.2
-
63
-
-
0025361159
-
Topographic heterogeneity of amyloid P-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein
-
K. E. Wisniewski, D. Maslinska, T. Kitaguchi, K. S. Kim, H. H. Goebel and M. Haltia, Topographic heterogeneity of amyloid P-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein, Acta Neuropathol 80: 26-34 (1990).
-
(1990)
Acta Neuropathol
, vol.80
, pp. 26-34
-
-
Wisniewski, K.E.1
Maslinska, D.2
Kitaguchi, T.3
Kim, K.S.4
Goebel, H.H.5
Haltia, M.6
-
64
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
E. D. Carstea, J. A. Morris, K. G. Coleman, S. K. Loftus, et al., Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis, Science 277: 228-231 (1997).
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.D.1
Morris, J.A.2
Coleman, K.G.3
Loftus, S.K.4
-
65
-
-
0033813196
-
The structure and function of the Niemann-Pick C1 protein
-
Y. A. Ioannou, The structure and function of the Niemann-Pick C1 protein, Mol Genet Metab 71: 175-181 (2000).
-
(2000)
Mol Genet Metab
, vol.71
, pp. 175-181
-
-
Ioannou, Y.A.1
-
66
-
-
0024539791
-
The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts
-
L. Liscum, R. M. Ruggiero and J. R. Faust, The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts, J Cell Biol 108: 1625-1636 (1989).
-
(1989)
J Cell Biol
, vol.108
, pp. 1625-1636
-
-
Liscum, L.1
Ruggiero, R.M.2
Faust, J.R.3
-
67
-
-
2942644795
-
Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport
-
D. te Vruchte, E. Lloyd-Evans, R. J. Veldman, D. C. Neville, R. A. Dwek, F. M. Platt, W. J. van Blitterswijk and D. J. Sillence, Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport, J Biol Chem 279: 26167-26175 (2004).
-
(2004)
J Biol Chem
, vol.279
, pp. 26167-26175
-
-
Te Vruchte, D.1
Lloyd-Evans, E.2
Veldman, R.J.3
Neville, D.C.4
Dwek, R.A.5
Platt, F.M.6
Van Blitterswijk, W.J.7
Sillence, D.J.8
-
68
-
-
0033832873
-
Genotype-phenotype relationship of Niemann-Pick disease type C: A possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts
-
T. Yamamoto, H. Ninomiya, M. Matsumoto, Y. Ohta, E. Nanba, Y. Tsutsumi, K. Yamakawa, G. Millat, M. T. Vanier, P. G. Pentchev and K. Ohno, Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts, J Med Genet 37: 707-712 (2000).
-
(2000)
J Med Genet
, vol.37
, pp. 707-712
-
-
Yamamoto, T.1
Ninomiya, H.2
Matsumoto, M.3
Ohta, Y.4
Nanba, E.5
Tsutsumi, Y.6
Yamakawa, K.7
Millat, G.8
Vanier, M.T.9
Pentchev, P.G.10
Ohno, K.11
-
69
-
-
0141886877
-
Niemann-Pick disease type C
-
M. T. Vanier and G. Millat, Niemann-Pick disease type C, Clin Genet 64: 269-281 (2003).
-
(2003)
Clin Genet
, vol.64
, pp. 269-281
-
-
Vanier, M.T.1
Millat, G.2
-
70
-
-
0034534808
-
Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased
-
C. Xie, D. K. Burns, S. D. Turley and J. M. Dietschy, Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased, J Neuropathol Exp Neurol 59: 1106-1117 (2000).
-
(2000)
J Neuropathol Exp Neurol
, vol.59
, pp. 1106-1117
-
-
Xie, C.1
Burns, D.K.2
Turley, S.D.3
Dietschy, J.M.4
-
71
-
-
0035142802
-
Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
-
M. Zervas, K. Dobrenis and S. U. Walkley, Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations, J Neuropathol Exp Neurol 60: 49-64 (2001).
-
(2001)
J Neuropathol Exp Neurol
, vol.60
, pp. 49-64
-
-
Zervas, M.1
Dobrenis, K.2
Walkley, S.U.3
-
72
-
-
2942624018
-
Perturbed myelination process of premyelinating oligodendrocyte in Niemann-Pick type C mouse
-
S. Takikita, T. Fukuda, I. Mohri, T. Yagi and K. Suzuki, Perturbed myelination process of premyelinating oligodendrocyte in Niemann-Pick type C mouse, J Neuropathol Exp Neurol 63: 660-673 (2004).
-
(2004)
J Neuropathol Exp Neurol
, vol.63
, pp. 660-673
-
-
Takikita, S.1
Fukuda, T.2
Mohri, I.3
Yagi, T.4
Suzuki, K.5
-
73
-
-
0036703779
-
Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in the Niemann-Pick type C murine model
-
B. Bu, J. Li, P. Davies and I. Vincent, Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in the Niemann-Pick type C murine model, J Neurosci 22: 6515-6525 (2002).
-
(2002)
J Neurosci
, vol.22
, pp. 6515-6525
-
-
Bu, B.1
Li, J.2
Davies, P.3
Vincent, I.4
-
74
-
-
0035821438
-
Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease
-
D. C. German, E. M. Quintero, C. L. Liang, B. Ng, S. Punia, C. Xie and J. M. Dietschy, Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease, J Comp Neurol 433: 415-425 (2001).
-
(2001)
J Comp Neurol
, vol.433
, pp. 415-425
-
-
German, D.C.1
Quintero, E.M.2
Liang, C.L.3
Ng, B.4
Punia, S.5
Xie, C.6
Dietschy, J.M.7
-
75
-
-
60549091933
-
Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis
-
C. D. Pacheco, M. J. Elrick and A. P. Lieberman, Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis, Hum Mol Genet 18: 956-965 (2009).
-
(2009)
Hum Mol Genet
, vol.18
, pp. 956-965
-
-
Pacheco, C.D.1
Elrick, M.J.2
Lieberman, A.P.3
-
76
-
-
36148991943
-
Cell-autonomous death of cerebellar Purkinje neurons with autophagy in Niemann-Pick type C disease
-
D. C. Ko, L. Milenkovic, S. M. Beier, H. Manuel, J. Buchanan and M. P. Scott, Cell-autonomous death of cerebellar Purkinje neurons with autophagy in Niemann-Pick type C disease, PLoS Genet 1: 81-95 (2005).
-
(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
-
77
-
-
34548860918
-
Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npcl— mouse brain
-
G. Liao, Y. Yao, J. Liu, Z. Yu, S. Cheung, A. Xie, X. Liang and X. Bi, Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npcl— mouse brain, Am J Pathol 171: 962-975 (2007).
-
(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
-
78
-
-
79954629282
-
Loss of amyloid precursor protein in a mouse model of Niemann-Pick type C disease exacerbates its phenotype and disrupts tau homeostasis
-
A. Nunes, S. N. Pressey, J. D. Cooper and S. Soriano, Loss of amyloid precursor protein in a mouse model of Niemann-Pick type C disease exacerbates its phenotype and disrupts tau homeostasis, Neurobiol Dis 42: 349-359 (2011).
-
(2011)
Neurobiol Dis
, vol.42
, pp. 349-359
-
-
Nunes, A.1
Pressey, S.N.2
Cooper, J.D.3
Soriano, S.4
-
79
-
-
79251560973
-
Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: A cross-sectional study
-
N. Mattsson, H. Zetterberg, S. Bianconi, N. M. Yanjanin, R. Fu, J. E. Mansson, F. D. Porter and K. Blennow, Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study, Neurology 76: 366-372 (2011).
-
(2011)
Neurology
, vol.76
, pp. 366-372
-
-
Mattsson, N.1
Zetterberg, H.2
Bianconi, S.3
Yanjanin, N.M.4
Fu, R.5
Mansson, J.E.6
Porter, F.D.7
Blennow, K.8
-
80
-
-
0036715016
-
Niemann-Pick type C disease: Accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity
-
Y. Saito, K. Suzuki, E. Nanba, T. Yamamoto, K. Ohno and S. Murayama, Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity, Ann Neurol 52: 351-355 (2002).
-
(2002)
Ann Neurol
, vol.52
, pp. 351-355
-
-
Saito, Y.1
Suzuki, K.2
Nanba, E.3
Yamamoto, T.4
Ohno, K.5
Murayama, S.6
-
81
-
-
4043141580
-
Loss of apolipoprotein E receptor LR11 in Alzheimer disease
-
C. R. Scherzer, K. Offe, M. Gearing, H. D. Rees, G. Fang, C. J. Heilman, C. Schaller, H. Bujo, A. I. Levey and J. J. Lah, Loss of apolipoprotein E receptor LR11 in Alzheimer disease, Arch Neurol 61: 1200-1205 (2004).
-
(2004)
Arch Neurol
, vol.61
, pp. 1200-1205
-
-
Scherzer, C.R.1
Offe, K.2
Gearing, M.3
Rees, H.D.4
Fang, G.5
Heilman, C.J.6
Schaller, C.7
Bujo, H.8
Levey, A.I.9
Lah, J.J.10
-
82
-
-
63949084694
-
Lipoprotein receptors and cholesterol in APP trafficking and proteolytic processing, implications for Alzheimer’s disease
-
M. P. Marzolo and G. Bu, Lipoprotein receptors and cholesterol in APP trafficking and proteolytic processing, implications for Alzheimer’s disease, Semin Cell Dev Biol 20: 191-200 (2009).
-
(2009)
Semin Cell Dev Biol
, vol.20
, pp. 191-200
-
-
Marzolo, M.P.1
Bu, G.2
-
83
-
-
1242316263
-
Intracellular accumulation of amyloidogenic fragments of amyloid-beta precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities
-
L. W. Jin, F. S. Shie, I. Maezawa, I. Vincent and T. Bird, Intracellular accumulation of amyloidogenic fragments of amyloid-beta precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities, Am J Pathol 164: 975-985 (2004).
-
(2004)
Am J Pathol
, vol.164
, pp. 975-985
-
-
Jin, L.W.1
Shie, F.S.2
Maezawa, I.3
Vincent, I.4
Bird, T.5
-
84
-
-
33645553416
-
Reactivity of apolipoprotein E4 and amyloid beta peptide: Lysosomal stability and neurodegeneration
-
Z. S. Ji, K. Mullendorff, I. H. Cheng, R. D. Miranda, Y. Huang and R. W. Mahley, Reactivity of apolipoprotein E4 and amyloid beta peptide: lysosomal stability and neurodegeneration, J Biol Chem 281: 2683-2692 (2006).
-
(2006)
J Biol Chem
, vol.281
, pp. 2683-2692
-
-
Ji, Z.S.1
Mullendorff, K.2
Cheng, I.H.3
Miranda, R.D.4
Huang, Y.5
Mahley, R.W.6
-
85
-
-
1042288280
-
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses
-
J. Ezaki and E. Kominami, The intracellular location and function of proteins of neuronal ceroid lipofuscinoses, Brain Pathol 14: 77-85 (2004).
-
(2004)
Brain Pathol
, vol.14
, pp. 77-85
-
-
Ezaki, J.1
Kominami, E.2
-
86
-
-
0028879016
-
The neuronal ceroid-lipofuscinoses
-
H. H. Goebel, The neuronal ceroid-lipofuscinoses, J Child Neurol 10: 424-437 (1995).
-
(1995)
J Child Neurol
, vol.10
, pp. 424-437
-
-
Goebel, H.H.1
-
87
-
-
0035684428
-
Neurodegenerative disease: The neuronal ceroid lipofuscinoses (Batten disease)
-
H. M. Mitchison and S. E. Mole, Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease), Curr Opin Neurol 14: 795-803 (2001).
-
(2001)
Curr Opin Neurol
, vol.14
, pp. 795-803
-
-
Mitchison, H.M.1
Mole, S.E.2
-
88
-
-
0035170833
-
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
-
J. M. Holopainen, J. Saarikoski, P. K. Kinnunen and I. Jarvela, Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs), Eur J Biochem 268: 5851-5856 (2001).
-
(2001)
Eur J Biochem
, vol.268
, pp. 5851-5856
-
-
Holopainen, J.M.1
Saarikoski, J.2
Kinnunen, P.K.3
Jarvela, I.4
-
89
-
-
63249117336
-
Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis
-
J. M. Weimer, J. W. Benedict, A. L. Getty, C. C. Pontikis, M. J. Lim, J. D. Cooper and D. A. Pearce, Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis, Brain Res 1266: 93-107 (2009).
-
(2009)
Brain Res
, vol.1266
, pp. 93-107
-
-
Weimer, J.M.1
Benedict, J.W.2
Getty, A.L.3
Pontikis, C.C.4
Lim, M.J.5
Cooper, J.D.6
Pearce, D.A.7
-
90
-
-
0026539541
-
Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)
-
D. N. Palmer, I. M. Fearnley, J. E. Walker, N. A. Hall, B. D. Lake, L. S. Wolfe, M. Haltia, R. D. Martinus and R. D. Jolly, Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease), Am J Med Genet 42: 561-567 (1992).
-
(1992)
Am J Med Genet
, vol.42
, pp. 561-567
-
-
Palmer, D.N.1
Fearnley, I.M.2
Walker, J.E.3
Hall, N.A.4
Lake, B.D.5
Wolfe, L.S.6
Haltia, M.7
Martinus, R.D.8
Jolly, R.D.9
-
91
-
-
1042265181
-
Current state of clinical and morphological features in human NCL
-
H. H. Goebel and K. E. Wisniewski, Current state of clinical and morphological features in human NCL, Brain Pathol 14: 61-69 (2004).
-
(2004)
Brain Pathol
, vol.14
, pp. 61-69
-
-
Goebel, H.H.1
Wisniewski, K.E.2
-
92
-
-
12944291307
-
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
-
E. Fossale, P. Wolf, J. A. Espinola, T. Lubicz-Nawrocka, A. M. Teed, H. Gao, D. Rigamonti, E. Cattaneo, M. E. MacDonald and S. L. Cotman, Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis, BMC Neurosci 5: 57 (2004).
-
(2004)
BMC Neurosci
, vol.5
, pp. 57
-
-
Fossale, E.1
Wolf, P.2
Espinola, J.A.3
Lubicz-Nawrocka, T.4
Teed, A.M.5
Gao, H.6
Rigamonti, D.7
Cattaneo, E.8
Macdonald, M.E.9
Cotman, S.L.10
-
93
-
-
0032796033
-
Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p
-
D. A. Pearce, S. A. Nosel and F. Sherman, Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p, Mol Genet Metab 66: 320-323 (1999).
-
(1999)
Mol Genet Metab
, vol.66
, pp. 320-323
-
-
Pearce, D.A.1
Nosel, S.A.2
Sherman, F.3
-
94
-
-
49649089300
-
Autophagic dysfunction in mucolipidosis type IV patients
-
S. Vergarajauregui, P. S. Connelly, M. P. Daniels and R. Puertollano, Autophagic dysfunction in mucolipidosis type IV patients, Hum Mol Genet 17: 2723-2737 (2008).
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2723-2737
-
-
Vergarajauregui, S.1
Connelly, P.S.2
Daniels, M.P.3
Puertollano, R.4
-
95
-
-
70350618320
-
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts
-
T. Otomo, K. Higaki, E. Nanba, K. Ozono and N. Sakai, Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts, Mol Genet Metab 98: 393-399 (2009).
-
(2009)
Mol Genet Metab
, vol.98
, pp. 393-399
-
-
Otomo, T.1
Higaki, K.2
Nanba, E.3
Ozono, K.4
Sakai, N.5
-
96
-
-
38649117272
-
Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis
-
A. Takamura, K. Higaki, K. Kajimaki, S. Otsuka, H. Ninomiya, J. Matsuda, K. Ohno, Y. Suzuki and E. Nanba, Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis, Biochem Biophys Res Commun 367: 616-622 (2008).
-
(2008)
Biochem Biophys Res Commun
, vol.367
, pp. 616-622
-
-
Takamura, A.1
Higaki, K.2
Kajimaki, K.3
Otsuka, S.4
Ninomiya, H.5
Matsuda, J.6
Ohno, K.7
Suzuki, Y.8
Nanba, E.9
-
97
-
-
2942529414
-
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: Effects on the late endocytic compartment organization
-
M. Manzoni, E. Monti, R. Bresciani, A. Bozzato, S. Barlati, M. T. Bassi and G. Borsani, Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization, FEBS Lett 567: 219-224 (2004).
-
(2004)
FEBS Lett
, vol.567
, pp. 219-224
-
-
Manzoni, M.1
Monti, E.2
Bresciani, R.3
Bozzato, A.4
Barlati, S.5
Bassi, M.T.6
Borsani, G.7
-
98
-
-
33748572921
-
Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic
-
P. R. Pryor, F. Reimann, F. M. Gribble and J. P. Luzio, Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic, Traffic 7: 1388-1398 (2006).
-
(2006)
Traffic
, vol.7
, pp. 1388-1398
-
-
Pryor, P.R.1
Reimann, F.2
Gribble, F.M.3
Luzio, J.P.4
-
99
-
-
33644655372
-
Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes
-
S. Vergarajauregui and R. Puertollano, Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes, Traffic 7: 337-353 (2006).
-
(2006)
Traffic
, vol.7
, pp. 337-353
-
-
Vergarajauregui, S.1
Puertollano, R.2
-
100
-
-
0034894817
-
Mucolipidosis type IV
-
G. Bach, Mucolipidosis type IV, Mol Genet Metab 73: 197-203 (2001).
-
(2001)
Mol Genet Metab
, vol.73
, pp. 197-203
-
-
Bach, G.1
-
101
-
-
4444244825
-
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV
-
J. M. LaPlante, C. P. Ye, S. J. Quinn, E. Goldin, E. M. Brown, S. A. Slaugenhaupt and P. M. Vassilev, Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV, Biochem Biophys Res Commun 322: 1384-1391 (2004).
-
(2004)
Biochem Biophys Res Commun
, vol.322
, pp. 1384-1391
-
-
Laplante, J.M.1
Ye, C.P.2
Quinn, S.J.3
Goldin, E.4
Brown, E.M.5
Slaugenhaupt, S.A.6
Vassilev, P.M.7
-
102
-
-
26444444017
-
Cation channel activity of muco-lipin-1: The effect of calcium
-
H. F. Cantiello, N. Montalbetti, W. H. Goldmann, M. K. Raychowdhury, S. Gonzalez-Perrett, G. A. Timpanaro and B. Chasan, Cation channel activity of muco-lipin-1: the effect of calcium, Pflugers Archiv 451: 304-312 (2005).
-
(2005)
Pflugers Archiv
, vol.451
, pp. 304-312
-
-
Cantiello, H.F.1
Montalbetti, N.2
Goldmann, W.H.3
Raychowdhury, M.K.4
Gonzalez-Perrett, S.5
Timpanaro, G.A.6
Chasan, B.7
-
103
-
-
33646344988
-
TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity
-
A. A. Soyombo, S. Tjon-Kon-Sang, Y. Rbaibi, E. Bashllari, J. Bisceglia, S. Muallem and K. Kiselyov, TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity, JBiol Chem 281: 7294-7301 (2006).
-
(2006)
Jbiol Chem
, vol.281
, pp. 7294-7301
-
-
Soyombo, A.A.1
Tjon-Kon-Sang, S.2
Rbaibi, Y.3
Bashllari, E.4
Bisceglia, J.5
Muallem, S.6
Kiselyov, K.7
-
104
-
-
0016725463
-
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV
-
G. Bach, M. M. Cohen and G. Kohn, Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV, Biochem Biophys Res Commun 66: 1483-1490 (1975).
-
(1975)
Biochem Biophys Res Commun
, vol.66
, pp. 1483-1490
-
-
Bach, G.1
Cohen, M.M.2
Kohn, G.3
-
105
-
-
0019955276
-
Review article: Mucolipidosis IV
-
B. F. Crandall, M. Philippart, W. J. Brown and D. A. Bluestone, Review article: mucolipidosis IV, Am JMed Genet 12: 301-308 (1982).
-
(1982)
Am Jmed Genet
, vol.12
, pp. 301-308
-
-
Crandall, B.F.1
Philippart, M.2
Brown, W.J.3
Bluestone, D.A.4
-
106
-
-
56349119573
-
Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells
-
K. Venkatachalam, A. A. Long, R. Elsaesser, D. Nikolaeva, K. Broadie and C. Montell, Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells, Cell 135: 838-851 (2008).
-
(2008)
Cell
, vol.135
, pp. 838-851
-
-
Venkatachalam, K.1
Long, A.A.2
Elsaesser, R.3
Nikolaeva, D.4
Broadie, K.5
Montell, C.6
-
107
-
-
77949850625
-
P-galactosidase deficiency (P-galactosidosis): GM1-gangliosidosis and Morquio B disease
-
eds. D.Valle, A. L. Beaudet, B. Vogelstein, K. W. Kinzler, et al. (McGraw-Hill, New York
-
M1-gangliosidosis and Morquio B disease. In: The Online Metabolic and Molecular Bases of Inherited Disease, eds. D.Valle, A. L. Beaudet, B. Vogelstein, K. W. Kinzler, et al. (McGraw-Hill, New York, 2007).
-
(2007)
The Online Metabolic and Molecular Bases of Inherited Disease
-
-
Suzuki, Y.1
Nanba, E.2
Matsuda, J.3
Oshima, A.4
-
108
-
-
0014240433
-
Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (Generalized gangliosidosis)
-
K. Suzuki and G. C. Chen, Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis), J Neuropathol Exp Neurol 27: 15-38 (1968).
-
(1968)
J Neuropathol Exp Neurol
, vol.27
, pp. 15-38
-
-
Suzuki, K.1
Chen, G.C.2
-
109
-
-
2942670014
-
The leukoencephalopathy of infantile GM1 gangliosidosis: Oligodendrocytic loss and axonal dysfunction
-
J. P. van der Voorn, W. Kamphorst, M. S. van der Knaap and J. M. Powers, The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction, Acta Neuropathol 107: 539-545 (2004).
-
(2004)
Acta Neuropathol
, vol.107
, pp. 539-545
-
-
Van Der Voorn, J.P.1
Kamphorst, W.2
Van Der Knaap, M.S.3
Powers, J.M.4
-
110
-
-
0028330724
-
Ganglioside loss is a primary event in Alzheimer disease type I
-
L. Svennerholm, Ganglioside loss is a primary event in Alzheimer disease type I, Progr Brain Res 101: 391-404 (1994).
-
(1994)
Progr Brain Res
, vol.101
, pp. 391-404
-
-
Svennerholm, L.1
-
111
-
-
0025610029
-
Brain gangliosides in Alzheimer’s disease
-
I. Kracun, S. Kalanj, C. Cosovic and J. Talan-Hranilovic, Brain gangliosides in Alzheimer’s disease, J Hirnforsch 31: 789-793 (1990).
-
(1990)
J Hirnforsch
, vol.31
, pp. 789-793
-
-
Kracun, I.1
Kalanj, S.2
Cosovic, C.3
Talan-Hranilovic, J.4
-
112
-
-
0026279740
-
Regional distribution of brain gangliosides in Alzheimer’s disease
-
S. Kalanj, I. Kracun, H. Rosner and C. Cosovic, Regional distribution of brain gangliosides in Alzheimer’s disease, Neurol Croat 40: 269-281 (1991).
-
(1991)
Neurol Croat
, vol.40
, pp. 269-281
-
-
Kalanj, S.1
Kracun, I.2
Rosner, H.3
Cosovic, C.4
-
113
-
-
79551552043
-
Sphingolipid storage affects autophagic metabolism of the amyloid precursor protein and promotes Abeta generation
-
I. Y. Tamboli, H. Hampel, N. T. Tien, K. Tolksdorf, B. Breiden, P. M. Mathews, P. Saftig, K. Sandhoff and J. Walter, Sphingolipid storage affects autophagic metabolism of the amyloid precursor protein and promotes Abeta generation, J Neurosci 31: 1837-1849 (2011).
-
(2011)
J Neurosci
, vol.31
, pp. 1837-1849
-
-
Tamboli, I.Y.1
Hampel, H.2
Tien, N.T.3
Tolksdorf, K.4
Breiden, B.5
Mathews, P.M.6
Saftig, P.7
Sandhoff, K.8
Walter, J.9
-
114
-
-
4744365602
-
Consequences of NPC1 and NPC2 loss of function in mammalian neurons
-
S. U. Walkley and K. Suzuki, Consequences of NPC1 and NPC2 loss of function in mammalian neurons, Biochim Biophys Acta 1685: 48-62 (2004).
-
(2004)
Biochim Biophys Acta
, vol.1685
, pp. 48-62
-
-
Walkley, S.U.1
Suzuki, K.2
-
115
-
-
0025769357
-
Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement
-
S. U. Walkley, H. J. Baker, M. C. Rattazzi, M. E. Haskins and J. Y. Wu, Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement, J Neurol Sci 104: 1-8 (1991).
-
(1991)
J Neurol Sci
, vol.104
, pp. 1-8
-
-
Walkley, S.U.1
Baker, H.J.2
Rattazzi, M.C.3
Haskins, M.E.4
Wu, J.Y.5
-
116
-
-
0032796126
-
Accumulation of intracellular amyloid-beta peptide (A beta 1-40) in mucopolysaccharidosis brains
-
S. D. Ginsberg, J. E. Galvin, V. M. Lee, L. B. Rorke, D. W. Dickson, J. H. Wolfe, M. Z. Jones and J. Q. Trojanowski, Accumulation of intracellular amyloid-beta peptide (A beta 1-40) in mucopolysaccharidosis brains, J Neuropathol Exp Neurol 58: 815-824 (1999).
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 815-824
-
-
Ginsberg, S.D.1
Galvin, J.E.2
Lee, V.M.3
Rorke, L.B.4
Dickson, D.W.5
Wolfe, J.H.6
Jones, M.Z.7
Trojanowski, J.Q.8
|