-
1
-
-
4744343655
-
Gaucher disease: Complexity in a 'simple' disorder
-
Sidransky E: Gaucher disease: complexity in a 'simple' disorder. Mol Genet Metab 2004; 83: 6-15.
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 6-15
-
-
Sidransky, E.1
-
2
-
-
53049096591
-
Phenotype, diagnosis, and treatment of Gaucher's disease
-
Grabowski GA: Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008; 372: 1263-1271.
-
(2008)
Lancet
, vol.372
, pp. 1263-1271
-
-
Grabowski, G.A.1
-
3
-
-
77954933661
-
The role of glucocerebrosidase mutations in parkinson disease and lewy body disorders
-
Velayati A, Yu WH, Sidransky E: The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep 2010; 10: 190-198.
-
(2010)
Curr. Neurol. Neurosci. Rep.
, vol.10
, pp. 190-198
-
-
Velayati, A.1
Yu, W.H.2
Sidransky, E.3
-
4
-
-
0030882856
-
Alphasynuclein in Lewy bodies
-
Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M: Alphasynuclein in Lewy bodies. Nature 1997; 388: 839-840.
-
(1997)
Nature
, vol.388
, pp. 839-840
-
-
Spillantini, M.G.1
Schmidt, M.L.2
Lee, V.M.3
Trojanowski, J.Q.4
Jakes, R.5
Goedert, M.6
-
5
-
-
77957131926
-
Alpha-synuclein and synucleinopathies
-
Growdon J, Rossor MN (eds) 2. Oxford, Butterworth Heinemann, Inc
-
Schlossmacher M: Alpha-synuclein and synucleinopathies; in Growdon J, Rossor MN (eds): The Dementias 2. Oxford, Butterworth Heinemann, Inc, 2007, vol 30, pp 186-215.
-
(2007)
Dementias
, vol.30
, pp. 186-215
-
-
Schlossmacher, M.1
-
6
-
-
79956199921
-
Acidβ -glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter/α /e -synuclein processing
-
Cullen V, Sardi SP, Ng J, Xu YH, Sun Y, Tomlinson JJ, Kolodziej P, Kahn I, Saftig P, Woulfe J, Rochet JC, Glicksman MA, Cheng SH, Grabowski GA, Shihabuddin LS, Schlossmacher MG: Acidβ -glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter/α /e-synuclein processing. Ann Neurol 2011; 69: 940-953.
-
(2011)
Ann. Neurol.
, vol.69
, pp. 940-953
-
-
Cullen, V.1
Sardi, S.P.2
Ng, J.3
Xu, Y.H.4
Sun, Y.5
Tomlinson, J.J.6
Kolodziej, P.7
Kahn, I.8
Saftig, P.9
Woulfe, J.10
Rochet, J.C.11
Glicksman, M.A.12
Cheng, S.H.13
Grabowski, G.A.14
Shihabuddin, L.S.15
Schlossmacher, M.G.16
-
7
-
-
77956537090
-
Interaction between parkin and mutant glucocerebrosidase variants: A possible link between parkinson disease and gaucher disease
-
Ron I, Rapaport D, Horowitz M: Interaction between parkin and mutant glucocerebrosidase variants: a possible link between parkinson disease and gaucher disease. Hum Mol Genet 2010; 19: 3771-3781.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 3771-3781
-
-
Ron, I.1
Rapaport, D.2
Horowitz, M.3
-
8
-
-
71049138581
-
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism
-
Manning-Bog AB, Schule B, Langston JW: Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology 2009; 30: 1127-1132.
-
(2009)
Neurotoxicology
, vol.30
, pp. 1127-1132
-
-
Manning-Bog, A.B.1
Schule, B.2
Langston, J.W.3
-
9
-
-
79960009804
-
Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies
-
Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D: Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011; 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
-
10
-
-
33846379973
-
Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease
-
Lieberman RL, Wustman BA, Huertas P, Powe AC Jr, Pine CW, Khanna R, Schlossmacher MG, Ringe D, Petsko GA: Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nat Chem Biol 2007; 3: 101-107.
-
(2007)
Nat. Chem. Biol.
, vol.3
, pp. 101-107
-
-
Lieberman, R.L.1
Wustman, B.A.2
Huertas, P.3
Powe Jr., A.C.4
Pine, C.W.5
Khanna, R.6
Schlossmacher, M.G.7
Ringe, D.8
Petsko, G.A.9
-
11
-
-
79952619654
-
Accumulation and distribution of alpha-synuclein and ubiquitin in the CNS of Gaucher disease mouse models
-
Xu YH, Sun Y, Ran H, Quinn B, Witte D, Grabowski GA: Accumulation and distribution of alpha-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol Genet Metab 2011; 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
-
12
-
-
79961083395
-
CNS expression of glucocerebrosidase corrects/α /e-synuclein pathology and memory in a mouse model of Gaucher- related synucleinopathy
-
Sardi SP, Clarke J, Kinnecom C, Tamsett TJ, Li L, Stanek LM, Passini MA, Grabowski GA, Schlossmacher MG, Sidman RL, Cheng SH, Shihabuddin LS: CNS expression of glucocerebrosidase corrects/α /e-synuclein pathology and memory in a mouse model of Gaucher- related synucleinopathy. Proc Natl Acad Sci USA 2011; 108: 12101-1206.
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 12101-1206
-
-
Sardi, S.P.1
Clarke, J.2
Kinnecom, C.3
Tamsett, T.J.4
Li, L.5
Stanek, L.M.6
Passini, M.A.7
Grabowski, G.A.8
Schlossmacher, M.G.9
Sidman, R.L.10
Cheng, S.H.11
Shihabuddin, L.S.12
-
13
-
-
34548726339
-
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
-
Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K: Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 2007; 69: 1270-1277.
-
(2007)
Neurology
, vol.69
, pp. 1270-1277
-
-
Clark, L.N.1
Ross, B.M.2
Wang, Y.3
Mejia-Santana, H.4
Harris, J.5
Louis, E.D.6
Cote, L.J.7
Andrews, H.8
Fahn, S.9
Waters, C.10
Ford, B.11
Frucht, S.12
Ottman, R.13
Marder, K.14
-
14
-
-
60549098601
-
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset
-
Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T: Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009; 72: 310-316.
-
(2009)
Neurology
, vol.72
, pp. 310-316
-
-
Nichols, W.C.1
Pankratz, N.2
Marek, D.K.3
Pauciulo, M.W.4
Elsaesser, V.E.5
Halter, C.A.6
Rudolph, A.7
Wojcieszek, J.8
Pfeiffer, R.F.9
Foroud, T.10
-
15
-
-
46049112735
-
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
-
Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger A: Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 2008; 70: 2277-2283.
-
(2008)
Neurology
, vol.70
, pp. 2277-2283
-
-
Gan-Or, Z.1
Giladi, N.2
Rozovski, U.3
Shifrin, C.4
Rosner, S.5
Gurevich, T.6
Bar-Shira, A.7
Orr-Urtreger, A.8
-
16
-
-
80052028927
-
Exploring the link between glucocerebrosidase mutations and parkinsonism
-
Westbroek W, Gustafson AM, Sidransky E: Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol Med 2011; 17: 485-493.
-
(2011)
Trends. Mol. Med.
, vol.17
, pp. 485-493
-
-
Westbroek, W.1
Gustafson, A.M.2
Sidransky, E.3
-
17
-
-
0034893603
-
Gaucher's disease - An exemplary monogenic disorder
-
Cox TM: Gaucher's disease - An exemplary monogenic disorder. QJM 2001; 94: 399-402.
-
(2001)
QJM
, vol.94
, pp. 399-402
-
-
Cox, T.M.1
-
18
-
-
3242703423
-
Neuropathology provides clues to the pathophysiology of Gaucher disease
-
Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, Morrison A, Lwin A, Colegial C, Allman JM, Schiffmann R: Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 2004; 82: 192-207.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 192-207
-
-
Wong, K.1
Sidransky, E.2
Verma, A.3
Mixon, T.4
Sandberg, G.D.5
Wakefield, L.K.6
Morrison, A.7
Lwin, A.8
Colegial, C.9
Allman, J.M.10
Schiffmann, R.11
-
19
-
-
62549133546
-
Neuroinflammation in Parkinson's disease: A target for neuroprotection
-
Hirsch EC, Hunot S: Neuroinflammation in Parkinson's disease: a target for neuroprotection? Lancet Neurol 2009; 8: 382-397.
-
(2009)
Lancet Neurol.
, vol.8
, pp. 382-397
-
-
Hirsch, E.C.1
Hunot, S.2
-
20
-
-
0036855635
-
Misfolded proteinase K-resistant hyperphosphorylated alpha-synuclein in aged transgenic mice with locomotor deterioration and in human alpha-synucleinopathies
-
Neumann M, Kahle PJ, Giasson BI, Ozmen L, Borroni E, Spooren W, Muller V, Odoy S, Fujiwara H, Hasegawa M, Iwatsubo T, Trojanowski JQ, Kretzschmar HA, Haass C: Misfolded proteinase K-resistant hyperphosphorylated alpha-synuclein in aged transgenic mice with locomotor deterioration and in human alpha-synucleinopathies. J Clin Invest 2002; 110: 1429-1439.
-
(2002)
J. Clin. Invest.
, vol.110
, pp. 1429-1439
-
-
Neumann, M.1
Kahle, P.J.2
Giasson, B.I.3
Ozmen, L.4
Borroni, E.5
Spooren, W.6
Muller, V.7
Odoy, S.8
Fujiwara, H.9
Hasegawa, M.10
Iwatsubo, T.11
Trojanowski, J.Q.12
Kretzschmar, H.A.13
Haass, C.14
-
21
-
-
36849057499
-
Murine models of acute neuronopathic Gaucher disease
-
Enquist IB, Lo Bianco C, Ooka A, Nilsson E, Mansson JE, Ehinger M, Richter J, Brady RO, Kirik D, Karlsson S: Murine models of acute neuronopathic Gaucher disease. Proc Natl Acad Sci USA 2007; 104: 17483-17488.
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 17483-17488
-
-
Enquist, I.B.1
Lo Bianco, C.2
Ooka, A.3
Nilsson, E.4
Mansson, J.E.5
Ehinger, M.6
Richter, J.7
Brady, R.O.8
Kirik, D.9
Karlsson, S.10
-
22
-
-
12444296116
-
Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism
-
Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E: Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 2003; 79: 104-109.
-
(2003)
Mol. Genet. Metab.
, vol.79
, pp. 104-109
-
-
Tayebi, N.1
Walker, J.2
Stubblefield, B.3
Orvisky, E.4
LaMarca, M.E.5
Wong, K.6
Rosenbaum, H.7
Schiffmann, R.8
Bembi, B.9
Sidransky, E.10
-
23
-
-
33748304674
-
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
-
Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E: Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 2006; 67: 908-910.
-
(2006)
Neurology
, vol.67
, pp. 908-910
-
-
Goker-Alpan, O.1
Giasson, B.I.2
Eblan, M.J.3
Nguyen, J.4
Hurtig, H.I.5
Lee, V.M.6
Trojanowski, J.Q.7
Sidransky, E.8
-
24
-
-
67650087652
-
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
-
Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW: Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009; 132: 1783-1794.
-
(2009)
Brain
, vol.132
, pp. 1783-1794
-
-
Neumann, J.1
Bras, J.2
Deas, E.3
O'Sullivan, S.S.4
Parkkinen, L.5
Lachmann, R.H.6
Li, A.7
Holton, J.8
Guerreiro, R.9
Paudel, R.10
Segarane, B.11
Singleton, A.12
Lees, A.13
Hardy, J.14
Houlden, H.15
Revesz, T.16
Wood, N.W.17
-
25
-
-
79959925894
-
Alpha-synuclein interacts with glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases
-
Yap TL, Gruschus JM, Velayati A, Westbroek W, Goldin E, Moaven N, Sidransky E, Lee JC: Alpha-synuclein interacts with glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. J Biol Chem 2011; 286: 28080-28088.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 28080-28088
-
-
Yap, T.L.1
Gruschus, J.M.2
Velayati, A.3
Westbroek, W.4
Goldin, E.5
Moaven, N.6
Sidransky, E.7
Lee, J.C.8
-
27
-
-
0037456578
-
The formation of highly soluble oligomers of alpha-synuclein is regulated by fatty acids and enhanced in Parkinson's disease
-
Sharon R, Bar-Joseph I, Frosch MP, Walsh DM, Hamilton JA, Selkoe DJ: The formation of highly soluble oligomers of alpha-synuclein is regulated by fatty acids and enhanced in Parkinson's disease. Neuron 2003; 37: 583-595.
-
(2003)
Neuron
, vol.37
, pp. 583-595
-
-
Sharon, R.1
Bar-Joseph, I.2
Frosch, M.P.3
Walsh, D.M.4
Hamilton, J.A.5
Selkoe, D.J.6
-
28
-
-
13844317890
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
Schlossmacher MG, Cullen V, Muthing J: The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2005; 352: 728-731.
-
(2005)
N. Engl. J. Med.
, vol.352
, pp. 728-731
-
-
Schlossmacher, M.G.1
Cullen, V.2
Muthing, J.3
-
29
-
-
34548039499
-
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease
-
Balducci C, Pierguidi L, Persichetti E, Parnetti L, Sbaragli M, Tassi C, Orlacchio A, Calabresi P, Beccari T, Rossi A: Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease. Mov Disord 2007; 22: 1481-1484.
-
(2007)
Mov. Disord.
, vol.22
, pp. 1481-1484
-
-
Balducci, C.1
Pierguidi, L.2
Persichetti, E.3
Parnetti, L.4
Sbaragli, M.5
Tassi, C.6
Orlacchio, A.7
Calabresi, P.8
Beccari, T.9
Rossi, A.10
-
30
-
-
67349254635
-
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in dementia with Lewy bodies
-
Parnetti L, Balducci C, Pierguidi L, De Carlo C, Peducci M, D'Amore C, Padiglioni C, Mastrocola S, Persichetti E, Paciotti S, Bellomo G, Tambasco N, Rossi A, Beccari T, Calabresi P: Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in dementia with Lewy bodies. Neurobiol Dis 2009; 34: 484-486.
-
(2009)
Neurobiol. Dis.
, vol.34
, pp. 484-486
-
-
Parnetti, L.1
Balducci, C.2
Pierguidi, L.3
De Carlo, C.4
Peducci, M.5
D'Amore, C.6
Padiglioni, C.7
Mastrocola, S.8
Persichetti, E.9
Paciotti, S.10
Bellomo, G.11
Tambasco, N.12
Rossi, A.13
Beccari, T.14
Calabresi, P.15
-
31
-
-
79956217030
-
Translational research in neurology and neuroscience 2011: Movement disorders
-
Klein C, Krainc D, Schlossmacher MG, Lang AE: Translational research in neurology and neuroscience 2011: Movement disorders. Arch Neurol 2011; 68: 709-716.
-
(2011)
Arch. Neurol.
, vol.68
, pp. 709-716
-
-
Klein, C.1
Krainc, D.2
Schlossmacher, M.G.3
Lang, A.E.4
-
32
-
-
25444512703
-
Gaucher disease mouse models: Point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants
-
Sun Y, Quinn B, Witte DP, Grabowski GA: Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J Lipid Res 2005; 46: 2102-2113.
-
(2005)
J. Lipid. Res.
, vol.46
, pp. 2102-2113
-
-
Sun, Y.1
Quinn, B.2
Witte, D.P.3
Grabowski, G.A.4
|