-
1
-
-
84871960929
-
The cell biology of disease: Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
-
Platt FM, Boland B, van der Spoel AC. The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J Cell Biol 2012; 199: 723-734.
-
(2012)
J Cell Biol
, vol.199
, pp. 723-734
-
-
Platt, F.M.1
Boland, B.2
Van Der Spoel, A.C.3
-
2
-
-
84862602473
-
Autophagy in lysosomal storage disorders
-
Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A. Autophagy in lysosomal storage disorders. Autophagy 2012; 8: 719-730.
-
(2012)
Autophagy
, vol.8
, pp. 719-730
-
-
Lieberman, A.P.1
Puertollano, R.2
Raben, N.3
Slaugenhaupt, S.4
Walkley, S.U.5
Ballabio, A.6
-
3
-
-
39849109338
-
Autophagy fights disease through cellular self-digestion
-
Mizushima N, Levine B, Cuervo AM, Klionsky DJ. Autophagy fights disease through cellular self-digestion. Nature 2008; 451: 1069-1075.
-
(2008)
Nature
, vol.451
, pp. 1069-1075
-
-
Mizushima, N.1
Levine, B.2
Cuervo, A.M.3
Klionsky, D.J.4
-
4
-
-
84880376355
-
Emerging regulation and functions of autophagy
-
Boya P, Reggiori F, Codogno P. Emerging regulation and functions of autophagy. Nat Cell Biol 2013; 15: 713-720.
-
(2013)
Nat Cell Biol
, vol.15
, pp. 713-720
-
-
Boya, P.1
Reggiori, F.2
Codogno, P.3
-
5
-
-
0013881132
-
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae
-
Brady RO, Kanfer JN, Mock MB, Fredrickson DS. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. Proc Natl Acad Sci USA 1966; 55: 366-369.
-
(1966)
Proc Natl Acad Sci USA
, vol.55
, pp. 366-369
-
-
Brady, R.O.1
Kanfer, J.N.2
Mock, M.B.3
Fredrickson, D.S.4
-
6
-
-
0032869856
-
Functional analysis of acid and neutral sphingomyelinases in vitro and in vivo
-
Stoffel W. Functional analysis of acid and neutral sphingomyelinases in vitro and in vivo. Chem Phys Lipids 1999; 102: 107-121.
-
(1999)
Chem Phys Lipids
, vol.102
, pp. 107-121
-
-
Stoffel, W.1
-
7
-
-
79851470428
-
Brain pathology in Niemann Pick disease type A: Insights from the acid sphingomyelinase knockout mice
-
Ledesma MD, Prinetti A, Sonnino S, Schuchman EH. Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice. J Neurochem 2011; 116: 779-788.
-
(2011)
J Neurochem
, vol.116
, pp. 779-788
-
-
Ledesma, M.D.1
Prinetti, A.2
Sonnino, S.3
Schuchman, E.H.4
-
8
-
-
77649223760
-
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease
-
Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase- deficient Niemann-Pick disease. Int J Clin Pharmacol Ther 2009; 47(Suppl 1): S48-S57.
-
(2009)
Int J Clin Pharmacol Ther
, vol.47
, Issue.SUPPL. 1
-
-
Schuchman, E.H.1
-
9
-
-
0029012443
-
Acid sphingomyelinase deficient mice: A model of types A and B Niemann-Pick disease
-
Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K et al. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat. Genet 1995; 10: 288-293.
-
(1995)
Nat. Genet
, vol.10
, pp. 288-293
-
-
Horinouchi, K.1
Erlich, S.2
Perl, D.P.3
Ferlinz, K.4
Bisgaier, C.L.5
Sandhoff, K.6
-
10
-
-
39449138447
-
Anomalous surface distribution of glycosyl phosphatidyl inositol-anchored proteins in neurons lacking acid sphingomyelinase
-
Galvan C, Camoletto PG, Cristofani F, Van Veldhoven PP, Ledesma MD. Anomalous surface distribution of glycosyl phosphatidyl inositol-anchored proteins in neurons lacking acid sphingomyelinase. Mol Biol Cell 2008; 19: 509-522.
-
(2008)
Mol Biol Cell
, vol.19
, pp. 509-522
-
-
Galvan, C.1
Camoletto, P.G.2
Cristofani, F.3
Van Veldhoven, P.P.4
Ledesma, M.D.5
-
11
-
-
65349087336
-
Synaptic vesicle docking: Sphingosine regulates syntaxin1 interaction with Munc18
-
Camoletto PG, Vara H, Morando L, Connell E, Marletto FP, Giustetto M et al. Synaptic vesicle docking: sphingosine regulates syntaxin1 interaction with Munc18. PLoS One 2009; 4: e5310.
-
(2009)
PLoS One
, vol.4
-
-
Camoletto, P.G.1
Vara, H.2
Morando, L.3
Connell, E.4
Marletto, F.P.5
Giustetto, M.6
-
12
-
-
56349145208
-
Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration
-
Macauley SL, Sidman RL, Schuchman EH, Taksir T, Stewart GR. Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration. Exp Neurol 2008; 214: 181-192.
-
(2008)
Exp Neurol
, vol.214
, pp. 181-192
-
-
Macauley, S.L.1
Sidman, R.L.2
Schuchman, E.H.3
Taksir, T.4
Stewart, G.R.5
-
13
-
-
60549093730
-
Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates
-
Korolchuk VI, Mansilla A, Menzies FM, Rubinsztein DC. Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates. Mol Cell 2009; 33: 517-527.
-
(2009)
Mol Cell
, vol.33
, pp. 517-527
-
-
Korolchuk, V.I.1
Mansilla, A.2
Menzies, F.M.3
Rubinsztein, D.C.4
-
14
-
-
33646800306
-
Loss of autophagy in the central nervous system causes neurodegeneration in mice
-
Komatsu M, Waguri S, Chiba T, Murata S, Iwata J, Tanida I et al. Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 2006; 441: 880-884.
-
(2006)
Nature
, vol.441
, pp. 880-884
-
-
Komatsu, M.1
Waguri, S.2
Chiba, T.3
Murata, S.4
Iwata, J.5
Tanida, I.6
-
15
-
-
34548259958
-
P62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy
-
Pankiv S, Clausen TH, Lamark T, Brech A, Bruun JA, Outzen H et al. p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy. J Biol Chem 2007; 282: 24131-24145.
-
(2007)
J Biol Chem
, vol.282
, pp. 24131-24145
-
-
Pankiv, S.1
Clausen, T.H.2
Lamark, T.3
Brech, A.4
Bruun, J.A.5
Outzen, H.6
-
16
-
-
60849099049
-
A role for NBR1 in autophagosomal degradation of ubiquitinated substrates
-
Kirkin V, Lamark T, Sou YS, Bjørkøy G, Nunn JL, Bruun JA et al. A role for NBR1 in autophagosomal degradation of ubiquitinated substrates. Mol Cell 2009; 33: 505-516.
-
(2009)
Mol Cell
, vol.33
, pp. 505-516
-
-
Kirkin, V.1
Lamark, T.2
Sou, Y.S.3
Bjørkøy, G.4
Nunn, J.L.5
Bruun, J.A.6
-
17
-
-
33745192802
-
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
-
Hara T, Nakamura K, Matsui M, Yamamoto A, Nakahara Y, Suzuki-Migishima R et al. Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature 2006; 441: 885-889.
-
(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
-
18
-
-
33646800306
-
Loss of autophagy in the central nervous system causes neurodegeneration in mice
-
Komatsu M, Waguri S, Chiba T, Murata S, Iwata J, Tanida I et al. Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 2006; 441: 880-884.
-
(2006)
Nature
, vol.441
, pp. 880-884
-
-
Komatsu, M.1
Waguri, S.2
Chiba, T.3
Murata, S.4
Iwata, J.5
Tanida, I.6
-
19
-
-
0032963464
-
Fractin immunostaining for the detection of apoptotic cells and apoptotic bodies in formalin-fixed and paraffin-embedded tissue
-
Suurmeijer AJ, van der Wijk J, van Veldhuisen DJ, Yang F, Cole GM. Fractin immunostaining for the detection of apoptotic cells and apoptotic bodies in formalin-fixed and paraffin-embedded tissue. Lab Invest 1999; 79: 619-620.
-
(1999)
Lab Invest
, vol.79
, pp. 619-620
-
-
Suurmeijer, A.J.1
Van Der Wijk, J.2
Van Veldhuisen, D.J.3
Yang, F.4
Cole, G.M.5
-
21
-
-
78149282263
-
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders
-
Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Medina DL, Spampanato C et al. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J 2010; 29: 3607-3620.
-
(2010)
EMBO J
, vol.29
, pp. 3607-3620
-
-
Fraldi, A.1
Annunziata, F.2
Lombardi, A.3
Kaiser, H.J.4
Medina, D.L.5
Spampanato, C.6
-
22
-
-
84868102987
-
Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease
-
Elrick MJ, Yu T, Chung C, Lieberman AP. Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease. Hum Mol Genet 2012; 21: 4876-4887.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4876-4887
-
-
Elrick, M.J.1
Yu, T.2
Chung, C.3
Lieberman, A.P.4
-
23
-
-
79551552043
-
Sphingolipid storage affects autophagic metabolism of the amyloid precursor protein and promotes Abeta generation
-
Tamboli IY, Hampel H, Tien NT, Tolksdorf K, Breiden B, Mathews PM et al. Sphingolipid storage affects autophagic metabolism of the amyloid precursor protein and promotes Abeta generation. J Neurosci 2011; 31: 1837-1849.
-
(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
-
24
-
-
84890144959
-
Impaired autophagy in the lipid-storage disorder Niemann-pick type C1 disease
-
Sarkar S, Carroll B, Buganim Y, Maetzel D, Ng AH, Cassady JP et al. Impaired autophagy in the lipid-storage disorder Niemann-pick type C1 disease. Cell Rep 2013; 5: 1302-1315.
-
(2013)
Cell Rep
, vol.5
, pp. 1302-1315
-
-
Sarkar, S.1
Carroll, B.2
Buganim, Y.3
Maetzel, D.4
Ng, A.H.5
Cassady, J.P.6
-
25
-
-
3342936603
-
Recognition of sphingomyelin by lysenin and lysenin-related proteins
-
Kiyokawa E, Makino A, Ishii K, Otsuka N, Yamaji-Hasegawa A, Kobayashi T. Recognition of sphingomyelin by lysenin and lysenin-related proteins. Biochemistry 2004; 43: 9766-9773.
-
(2004)
Biochemistry
, vol.43
, pp. 9766-9773
-
-
Kiyokawa, E.1
Makino, A.2
Ishii, K.3
Otsuka, N.4
Yamaji-Hasegawa, A.5
Kobayashi, T.6
-
26
-
-
84858121800
-
The role of ubiquitylation in receptor endocytosis and endosomal sorting
-
Haglund K, Dikic I. The role of ubiquitylation in receptor endocytosis and endosomal sorting. J Cell Sci 2012; 125: 265-275.
-
(2012)
J Cell Sci
, vol.125
, pp. 265-275
-
-
Haglund, K.1
Dikic, I.2
-
27
-
-
77955131007
-
Plasma membrane contributes to the formation of pre-autophagosomal structures
-
Ravikumar B, Moreau K, Jahreiss L, Puri C, Rubinsztein DC. Plasma membrane contributes to the formation of pre-autophagosomal structures. Nat Cell Biol 2010; 12: 747-757.
-
(2010)
Nat Cell Biol
, vol.12
, pp. 747-757
-
-
Ravikumar, B.1
Moreau, K.2
Jahreiss, L.3
Puri, C.4
Rubinsztein, D.C.5
-
28
-
-
0025347293
-
Dexamethasone increases neutral sphingomyelinase activity and sphingosine levels in 3T3-L1 fibroblasts
-
Ramachandran CK, Murray DK, Nelson DH. Dexamethasone increases neutral sphingomyelinase activity and sphingosine levels in 3T3-L1 fibroblasts. Biochem Biophys Res Commun 1990; 167: 607-613.
-
(1990)
Biochem Biophys Res Commun
, vol.167
, pp. 607-613
-
-
Ramachandran, C.K.1
Murray, D.K.2
Nelson, D.H.3
-
29
-
-
9344260848
-
Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology
-
Shihabuddin LS, Numan S, Huff MR, Dodge JC, Clarke J, Macauley SL et al. Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology. J Neurosci 2004; 24: 10642-10651.
-
(2004)
J Neurosci
, vol.24
, pp. 10642-10651
-
-
Shihabuddin, L.S.1
Numan, S.2
Huff, M.R.3
Dodge, J.C.4
Clarke, J.5
Macauley, S.L.6
-
30
-
-
20244383300
-
AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease
-
Passini MA, Macauley SL, Huff MR, Taksir TV, Bu J, Wu IH et al. AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease. Mol Ther 2005; 11: 754-762.
-
(2005)
Mol Ther
, vol.11
, pp. 754-762
-
-
Passini, M.A.1
Macauley, S.L.2
Huff, M.R.3
Taksir, T.V.4
Bu, J.5
Wu, I.H.6
-
31
-
-
77956576067
-
Effects of beta-cyclodextrin on the structure of sphingomyelin/ cholesterol model membranes
-
Jablin MS, Flasiński M, Dubey M, Ratnaweera DR, Broniatowski M, Dynarowicz-Łatka P et al. Effects of beta-cyclodextrin on the structure of sphingomyelin/cholesterol model membranes. Biophys J 2010; 99: 1475-1481.
-
(2010)
Biophys J
, vol.99
, pp. 1475-1481
-
-
Jablin, M.S.1
Flasiński, M.2
Dubey, M.3
Ratnaweera, D.R.4
Broniatowski, M.5
Dynarowicz-ŁAtka, P.6
-
32
-
-
34548077575
-
Dissection of the autophagosome maturation process by a novel reporter protein, tandem fluorescent-tagged LC3
-
Kimura S, Noda T, Yoshimori T. Dissection of the autophagosome maturation process by a novel reporter protein, tandem fluorescent-tagged LC3. Autophagy 2007; 3: 452-460.
-
(2007)
Autophagy
, vol.3
, pp. 452-460
-
-
Kimura, S.1
Noda, T.2
Yoshimori, T.3
-
33
-
-
77957855881
-
Specialized roles for cysteine cathepsins in health and disease
-
Reiser J, Adair B, Reinheckel T. Specialized roles for cysteine cathepsins in health and disease. J Clin Invest 2010; 120: 3421-3431.
-
(2010)
J Clin Invest
, vol.120
, pp. 3421-3431
-
-
Reiser, J.1
Adair, B.2
Reinheckel, T.3
-
34
-
-
84855503594
-
Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease
-
Moles A, Tarrats N, Fernández-Checa JC, Marí M. Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease. J Biol Chem 2012; 287: 1178-1188.
-
(2012)
J Biol Chem
, vol.287
, pp. 1178-1188
-
-
Moles, A.1
Tarrats, N.2
Fernández-Checa, J.C.3
Marí, M.4
-
35
-
-
54949137644
-
Lysosomal membrane permeabilization in cell death
-
Boya P, Kroemer G. Lysosomal membrane permeabilization in cell death. Oncogene 2008; 27: 6434-6451.
-
(2008)
Oncogene
, vol.27
, pp. 6434-6451
-
-
Boya, P.1
Kroemer, G.2
-
36
-
-
75749102680
-
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology
-
Kirkegaard T, Roth AG, Petersen NH, Mahalka AK, Olsen OD, Moilanen I et al. Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 2010; 463: 549-553.
-
(2010)
Nature
, vol.463
, pp. 549-553
-
-
Kirkegaard, T.1
Roth, A.G.2
Petersen, N.H.3
Mahalka, A.K.4
Olsen, O.D.5
Moilanen, I.6
-
37
-
-
4344651318
-
Heat shock protein 70 promotes cell survival by inhibiting lysosomal membrane permeabilization
-
Nylandsted J, Gyrd-Hansen M, Danielewicz A, Fehrenbacher N, Lademann U, Høyer-Hansen M et al. Heat shock protein 70 promotes cell survival by inhibiting lysosomal membrane permeabilization. J Exp Med 2004; 200: 425-435.
-
(2004)
J Exp Med
, vol.200
, pp. 425-435
-
-
Nylandsted, J.1
Gyrd-Hansen, M.2
Danielewicz, A.3
Fehrenbacher, N.4
Lademann, U.5
Høyer-Hansen, M.6
-
38
-
-
84863482530
-
Lysosomal function and dysfunction: Mechanism and disease
-
Boya P. Lysosomal function and dysfunction: mechanism and disease. Antioxid Redox Signal. 2012; 17: 766-774.
-
(2012)
Antioxid Redox Signal.
, vol.17
, pp. 766-774
-
-
Boya, P.1
-
39
-
-
37549066697
-
A block of autophagy in lysosomal storage disorders
-
Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D et al. A block of autophagy in lysosomal storage disorders. Hum Mol Genet 2008; 17: 119-129.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 119-129
-
-
Settembre, C.1
Fraldi, A.2
Jahreiss, L.3
Spampanato, C.4
Venturi, C.5
Medina, D.6
-
40
-
-
34447302577
-
Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects
-
Pacheco CD, Kunkel R, Lieberman AP. Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. Hum Mol Genet 2007; 16: 1495-1503.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1495-1503
-
-
Pacheco, C.D.1
Kunkel, R.2
Lieberman, A.P.3
-
41
-
-
0031031041
-
The autophagic and endocytic pathways converge at the nascent autophagic vacuoles
-
Liou W, Geuze HJ, Geelen MJ, Slot JW. The autophagic and endocytic pathways converge at the nascent autophagic vacuoles. J Cell Biol 1997; 136: 61-70.
-
(1997)
J Cell Biol
, vol.136
, pp. 61-70
-
-
Liou, W.1
Geuze, H.J.2
Geelen, M.J.3
Slot, J.W.4
-
42
-
-
0030890815
-
Evidence for fusion between multilamellar endosomes and autophagosomes in HeLa cells
-
Lucocq J, Walker D. Evidence for fusion between multilamellar endosomes and autophagosomes in HeLa cells. Eur J Cell Biol 1997; 72: 307-313.
-
(1997)
Eur J Cell Biol
, vol.72
, pp. 307-313
-
-
Lucocq, J.1
Walker, D.2
-
43
-
-
84884220705
-
Diverse autophagosome membrane sources coalesce in recycling endosomes
-
Puri C, Renna M, Bento CF, Moreau K, Rubinsztein DC. Diverse autophagosome membrane sources coalesce in recycling endosomes. Cell 2013; 154: 1285-1299.
-
(2013)
Cell
, vol.154
, pp. 1285-1299
-
-
Puri, C.1
Renna, M.2
Bento, C.F.3
Moreau, K.4
Rubinsztein, D.C.5
-
44
-
-
79960774898
-
Autophagosome precursor maturation requires homotypic fusion
-
Moreau K, Ravikumar B, Renna M, Puri C, Rubinsztein DC. Autophagosome precursor maturation requires homotypic fusion. Cell 2011; 146: 303-317.
-
(2011)
Cell
, vol.146
, pp. 303-317
-
-
Moreau, K.1
Ravikumar, B.2
Renna, M.3
Puri, C.4
Rubinsztein, D.C.5
-
45
-
-
0023905661
-
The establishment of polarity by hippocampal neurons in culture
-
Dotti CG, Sullivan CA, Banker GA. The establishment of polarity by hippocampal neurons in culture. J Neurosci 1988; 8: 1454-1468.
-
(1988)
J Neurosci
, vol.8
, pp. 1454-1468
-
-
Dotti, C.G.1
Sullivan, C.A.2
Banker, G.A.3
|