-
2
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky, E., Nalls, M.A., Aasly, J.O., Aharon-Peretz, J., Annesi, G., Barbosa, E.R., Bar-Shira, A., Berg, D., Bras, J., Brice, A., et al. (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med., 361, 1651-1661.
-
(2009)
N. Engl. J. Med
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
Aharon-Peretz, J.4
Annesi, G.5
Barbosa, E.R.6
Bar-Shira, A.7
Berg, D.8
Bras, J.9
Brice, A.10
-
3
-
-
34548726339
-
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
-
Clark, L.N., Ross, B.M., Wang, Y., Mejia-Santana, H., Harris, J., Louis, E.D., Cote, L.J., Andrews, H., Fahn, S., Waters, C., et al. (2007) Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology, 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
-
4
-
-
84867616698
-
The link between the GBA gene and parkinsonism
-
Sidransky, E. and Lopez, G. (2012) The link between the GBA gene and parkinsonism. Lancet Neurol., 11, 986-998.
-
(2012)
Lancet Neurol
, vol.11
, pp. 986-998
-
-
Sidransky, E.1
Lopez, G.2
-
5
-
-
84871226620
-
GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology
-
Tsuang, D., Leverenz, J.B., Lopez, O.L., Hamilton, R.L., Bennett, D.A., Schneider, J.A., Buchman, A.S., Larson, E.B., Crane, P.K., Kaye, J.A., et al. (2012) GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology, 79, 1944-1950.
-
(2012)
Neurology
, vol.79
, pp. 1944-1950
-
-
Tsuang, D.1
Leverenz, J.B.2
Lopez, O.L.3
Hamilton, R.L.4
Bennett, D.A.5
Schneider, J.A.6
Buchman, A.S.7
Larson, E.B.8
Crane, P.K.9
Kaye, J.A.10
-
6
-
-
84887574376
-
Glucocerebrosidase mutations and the pathogenesis of Parkinson disease
-
Beavan, M.S. and Schapira, A.H. (2013) Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Ann. Med., 45, 511-521.
-
(2013)
Ann. Med
, vol.45
, pp. 511-521
-
-
Beavan, M.S.1
Schapira, A.H.2
-
7
-
-
79956324138
-
Large-scale screening of the Gaucher's diseaserelated glucocerebrosidase gene in Europeans with Parkinson's disease
-
Lesage, S., Anheim, M., Condroyer, C., Pollak, P., Durif, F., Dupuits, C., Viallet, F., Lohmann, E., Corvol, J.C., Honore, A., et al. (2010) Large-scale screening of the Gaucher's diseaserelated glucocerebrosidase gene in Europeans with Parkinson's disease. Hum. Mol. Genet., 20, 202-210.
-
(2010)
Hum. Mol. Genet
, vol.20
, pp. 202-210
-
-
Lesage, S.1
Anheim, M.2
Condroyer, C.3
Pollak, P.4
Durif, F.5
Dupuits, C.6
Viallet, F.7
Lohmann, E.8
Corvol, J.C.9
Honore, A.10
-
8
-
-
80051481698
-
GBA-associated PD presents with nonmotor characteristics
-
Brockmann, K., Srulijes, K., Hauser, A.K., Schulte, C., Csoti, I., Gasser, T. and Berg, D. (2011) GBA-associated PD presents with nonmotor characteristics. Neurology, 77, 276-280.
-
(2011)
Neurology
, vol.77
, pp. 276-280
-
-
Brockmann, K.1
Srulijes, K.2
Hauser, A.K.3
Schulte, C.4
Csoti, I.5
Gasser, T.6
Berg, D.7
-
9
-
-
84859423454
-
Hyposmia and cognitive impairment in Gaucher disease patients and carriers
-
McNeill, A., Duran, R., Proukakis, C., Bras, J., Hughes, D., Mehta, A., Hardy, J., Wood, N.W. and Schapira, A.H. (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov. Disord., 27, 526-532.
-
(2012)
Mov. Disord
, vol.27
, pp. 526-532
-
-
McNeill, A.1
Duran, R.2
Proukakis, C.3
Bras, J.4
Hughes, D.5
Mehta, A.6
Hardy, J.7
Wood, N.W.8
Schapira, A.H.9
-
10
-
-
84860708754
-
Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study
-
Alcalay, R.N., Caccappolo, E., Mejia-Santana, H., Tang, M., Rosado, L., Orbe Reilly, M., Ruiz, D., Ross, B., Verbitsky, M., Kisselev, S., et al. (2012) Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology, 78, 1434-1440.
-
(2012)
Neurology
, vol.78
, pp. 1434-1440
-
-
Alcalay, R.N.1
Caccappolo, E.2
Mejia-Santana, H.3
Tang, M.4
Rosado, L.5
Orbe Reilly, M.6
Ruiz, D.7
Ross, B.8
Verbitsky, M.9
Kisselev, S.10
-
11
-
-
84874307778
-
Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort
-
Winder-Rhodes, S.E., Evans, J.R., Ban, M., Mason, S.L., Williams-Gray, C.H., Foltynie, T., Duran, R., Mencacci, N.E., Sawcer, S.J. and Barker, R.A. (2013) Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain, 136, 392-399.
-
(2013)
Brain
, vol.136
, pp. 392-399
-
-
Winder-Rhodes, S.E.1
Evans, J.R.2
Ban, M.3
Mason, S.L.4
Williams-Gray, C.H.5
Foltynie, T.6
Duran, R.7
Mencacci, N.E.8
Sawcer, S.J.9
Barker, R.A.10
-
12
-
-
84905054113
-
Visual short-term memory deficits associated with GBA mutation and Parkinson's disease
-
Zokaei, N., McNeill, A., Proukakis, C., Beavan, M., Jarman, P., Korlipara, P., Hughes, D., Mehta, A., Hu, M.T., Schapira, A.H., et al. (2014) Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain, 137, 2303-2311.
-
(2014)
Brain
, vol.137
, pp. 2303-2311
-
-
Zokaei, N.1
McNeill, A.2
Proukakis, C.3
Beavan, M.4
Jarman, P.5
Korlipara, P.6
Hughes, D.7
Mehta, A.8
Hu, M.T.9
Schapira, A.H.10
-
13
-
-
84889581821
-
Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals
-
Wang, C., Cai, Y., Gu, Z., Ma, J., Zheng, Z., Tang, B.S., Xu, Y., Zhou, Y., Feng, T., Wang, T., et al. (2014) Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals. Neurobiol. Aging, 35, 725 e721-e726.
-
(2014)
Neurobiol. Aging
, vol.35
, pp. 725e721-725e726
-
-
Wang, C.1
Cai, Y.2
Gu, Z.3
Ma, J.4
Zheng, Z.5
Tang, B.S.6
Xu, Y.7
Zhou, Y.8
Feng, T.9
Wang, T.10
-
14
-
-
85058205837
-
Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease
-
Li, Y., Sekine, T., Funayama, M., Li, L., Yoshino, H., Nishioka, K., Tomiyama, H. and Hattori, N. (2014) Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease. Neurobiol. Aging, 35, 935 e933-e938.
-
(2014)
Neurobiol. Aging
, vol.35
, pp. 935e933-935e938
-
-
Li, Y.1
Sekine, T.2
Funayama, M.3
Li, L.4
Yoshino, H.5
Nishioka, K.6
Tomiyama, H.7
Hattori, N.8
-
15
-
-
84924569948
-
GBAassociated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study
-
Brockmann, K., Srulijes, K., Pflederer, S., Hauser, A.K., Schulte, C., Maetzler, W., Gasser, T. and Berg, D. (2015) GBAassociated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study. Mov. Disord., 30, 407-411.
-
(2015)
Mov. Disord
, vol.30
, pp. 407-411
-
-
Brockmann, K.1
Srulijes, K.2
Pflederer, S.3
Hauser, A.K.4
Schulte, C.5
Maetzler, W.6
Gasser, T.7
Berg, D.8
-
16
-
-
84922216790
-
Gaucherrelated synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle
-
Sardi, S.P., Cheng, S.H. and Shihabuddin, L.S. (2015) Gaucherrelated synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle. Prog. Neurobiol., 125C, 47-62.
-
(2015)
Prog. Neurobiol
, vol.125C
, pp. 47-62
-
-
Sardi, S.P.1
Cheng, S.H.2
Shihabuddin, L.S.3
-
17
-
-
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. and Orr-Urtreger, A. (2008) Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology, 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
-
18
-
-
60549098601
-
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset
-
Nichols, W.C., Pankratz, N., Marek, D.K., Pauciulo, M.W., Elsaesser, V.E., Halter, C.A., Rudolph, A., Wojcieszek, J., Pfeiffer, R.F. and Foroud, T. (2009) Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology, 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
-
19
-
-
77953229340
-
The risk of Parkinson's disease in type 1 Gaucher disease
-
Bultron, G., Kacena, K., Pearson, D., Boxer, M., Yang, R., Sathe, S., Pastores, G. and Mistry, P.K. (2010) The risk of Parkinson's disease in type 1 Gaucher disease. J. Inherit. Metab. Dis., 33, 167-173.
-
(2010)
J. Inherit. Metab. Dis
, vol.33
, pp. 167-173
-
-
Bultron, G.1
Kacena, K.2
Pearson, D.3
Boxer, M.4
Yang, R.5
Sathe, S.6
Pastores, G.7
Mistry, P.K.8
-
20
-
-
84877741518
-
Greater risk of parkinsonism associated with non-N370S GBA1 mutations
-
Barrett, M.J., Giraldo, P., Capablo, J.L., Alfonso, P., Irun, P., Garcia-Rodriguez, B., Pocovi, M. and Pastores, G.M. (2013) Greater risk of parkinsonism associated with non-N370S GBA1 mutations. J. Inherit. Metab. Dis., 36, 575-580.
-
(2013)
J. Inherit. Metab. Dis
, vol.36
, pp. 575-580
-
-
Barrett, M.J.1
Giraldo, P.2
Capablo, J.L.3
Alfonso, P.4
Irun, P.5
Garcia-Rodriguez, B.6
Pocovi, M.7
Pastores, G.M.8
-
21
-
-
84871487773
-
Parkinson's disease in patients and obligate carriers of Gaucher disease
-
Becker, J.G., Pastores, G.M., Di Rocco, A., Ferraris, M., Graber, J.J. and Sathe, S. (2013) Parkinson's disease in patients and obligate carriers of Gaucher disease. Parkinsonism Relat. Disord., 19, 129-131.
-
(2013)
Parkinsonism Relat. Disord
, vol.19
, pp. 129-131
-
-
Becker, J.G.1
Pastores, G.M.2
Di Rocco, A.3
Ferraris, M.4
Graber, J.J.5
Sathe, S.6
-
22
-
-
84902140288
-
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes
-
Alcalay, R.N., Dinur, T., Quinn, T., Sakanaka, K., Levy, O., Waters, C., Fahn, S., Dorovski, T., Chung, W.K., Pauciulo, M., et al. (2014) Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol., 71, 752-757.
-
(2014)
JAMA Neurol
, vol.71
, pp. 752-757
-
-
Alcalay, R.N.1
Dinur, T.2
Quinn, T.3
Sakanaka, K.4
Levy, O.5
Waters, C.6
Fahn, S.7
Dorovski, T.8
Chung, W.K.9
Pauciulo, M.10
-
23
-
-
84924197455
-
Differential effects of severe vs mild GBA mutations on Parkinson disease
-
Gan-Or, Z., Amshalom, I., Kilarski, L.L., Bar-Shira, A., Gana-Weisz, M., Mirelman, A., Marder, K., Bressman, S., Giladi, N. and Orr-Urtreger, A. (2015) Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology, 84, 880-887.
-
(2015)
Neurology
, vol.84
, pp. 880-887
-
-
Gan-Or, Z.1
Amshalom, I.2
Kilarski, L.L.3
Bar-Shira, A.4
Gana-Weisz, M.5
Mirelman, A.6
Marder, K.7
Bressman, S.8
Giladi, N.9
Orr-Urtreger, A.10
-
24
-
-
79952619654
-
Accumulation and distribution of alphasynuclein and ubiquitin in the CNS of Gaucher disease mouse models
-
Xu, Y.H., Sun, Y., Ran, H., Quinn, B., Witte, D. and Grabowski, G.A. (2010) Accumulation and distribution of alphasynuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol. Genet. Metab., 102, 436-447.
-
(2010)
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
-
25
-
-
79956199921
-
Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alphasynuclein processing
-
Cullen, V., Sardi, S.P., Ng, J., Xu, Y.H., Sun, Y., Tomlinson, J.J., Kolodziej, P., Kahn, I., Saftig, P., Woulfe, J., et al. (2011) Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alphasynuclein processing. Ann. Neurol., 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
-
26
-
-
79961083395
-
CNS expression of glucocerebrosidase corrects (alpha)-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
-
Sardi, S.P., Clarke, J., Kinnecom, C., Tamsett, T.J., Li, L., Stanek, L.M., Passini, M.A., Grabowski, G.A., Schlossmacher, M.G., Sidman, R.L., et al. (2011) CNS expression of glucocerebrosidase corrects (alpha)-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc. Natl Acad. Sci. U S A, 108, 12101-12106.
-
(2011)
Proc. Natl Acad. Sci. U S A
, vol.108
, pp. 12101-12106
-
-
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
-
27
-
-
84893658332
-
Neuroinflammation and alpha-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction
-
Ginns, E.I., Mak, S.K., Ko, N., Karlgren, J., Akbarian, S., Chou, V.P., Guo, Y., Lim, A., Samuelsson, S., LaMarca, M.L., et al. (2014) Neuroinflammation and alpha-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction. Mol. Genet. Metab., 111, 152-162.
-
(2014)
Mol. Genet. Metab
, vol.111
, pp. 152-162
-
-
Ginns, E.I.1
Mak, S.K.2
Ko, N.3
Karlgren, J.4
Akbarian, S.5
Chou, V.P.6
Guo, Y.7
Lim, A.8
Samuelsson, S.9
LaMarca, M.L.10
-
28
-
-
84903984646
-
Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice
-
Xu, Y.H., Xu, K., Sun, Y., Liou, B., Quinn, B., Li, R.H., Xue, L., Zhang, W., Setchell, K.D., Witte, D., et al. (2014) Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice. Hum. Mol. Genet., 23, 3943-3957.
-
(2014)
Hum. Mol. Genet
, vol.23
, pp. 3943-3957
-
-
Xu, Y.H.1
Xu, K.2
Sun, Y.3
Liou, B.4
Quinn, B.5
Li, R.H.6
Xue, L.7
Zhang, W.8
Setchell, K.D.9
Witte, D.10
-
29
-
-
84922266926
-
Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation
-
Fishbein, I., Kuo, Y.M., Giasson, B.I. and Nussbaum, R.L. (2014) Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain, 137, 3235-3247.
-
(2014)
Brain
, vol.137
, pp. 3235-3247
-
-
Fishbein, I.1
Kuo, Y.M.2
Giasson, B.I.3
Nussbaum, R.L.4
-
30
-
-
84874487118
-
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies
-
Sardi, S.P., Clarke, J., Viel, C., Chan, M., Tamsett, T.J., Treleaven, C.M., Bu, J., Sweet, L., Passini, M.A., Dodge, J.C., et al. (2013) Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Proc. Natl Acad. Sci. U S A, 110, 3537-3542.
-
(2013)
Proc. Natl Acad. Sci. U S A
, vol.110
, pp. 3537-3542
-
-
Sardi, S.P.1
Clarke, J.2
Viel, C.3
Chan, M.4
Tamsett, T.J.5
Treleaven, C.M.6
Bu, J.7
Sweet, L.8
Passini, M.A.9
Dodge, J.C.10
-
31
-
-
0037118259
-
Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein
-
Giasson, B.I., Duda, J.E., Quinn, S.M., Zhang, B., Trojanowski, J.Q. and Lee, V.M. (2002) Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein. Neuron, 34, 521-533.
-
(2002)
Neuron
, vol.34
, pp. 521-533
-
-
Giasson, B.I.1
Duda, J.E.2
Quinn, S.M.3
Zhang, B.4
Trojanowski, J.Q.5
Lee, V.M.6
-
32
-
-
84867036900
-
Glucocerebrosidase deficiency in substantia nigra of Parkinson disease brains
-
Gegg, M.E., Burke, D., Heales, S.J., Cooper, J.M., Hardy, J., Wood, N.W. and Schapira, A.H. (2012) Glucocerebrosidase deficiency in substantia nigra of Parkinson disease brains. Ann. Neurol., 72, 455-463.
-
(2012)
Ann. Neurol
, vol.72
, pp. 455-463
-
-
Gegg, M.E.1
Burke, D.2
Heales, S.J.3
Cooper, J.M.4
Hardy, J.5
Wood, N.W.6
Schapira, A.H.7
-
33
-
-
84929870936
-
Progressive decline of glucocerebrosidase in aging and Parkinson's disease
-
Rocha, E.M., Smith, G.A., Park, E., Cao, H., Brown, E., Hallett, P. and Isacson, O. (2015) Progressive decline of glucocerebrosidase in aging and Parkinson's disease. Ann. Clin. Transl. Neurol., 2, 433-438.
-
(2015)
Ann. Clin. Transl. Neurol
, vol.2
, pp. 433-438
-
-
Rocha, E.M.1
Smith, G.A.2
Park, E.3
Cao, H.4
Brown, E.5
Hallett, P.6
Isacson, O.7
-
34
-
-
33947621993
-
Assessing nest building in mice
-
Deacon, R.M. (2006) Assessing nest building in mice. Nat. Protoc., 1, 1117-1119.
-
(2006)
Nat. Protoc
, vol.1
, pp. 1117-1119
-
-
Deacon, R.M.1
-
35
-
-
84881018218
-
Behavioral characterization of A53T mice reveals early and late stage deficits related to Parkinson's disease
-
Paumier, K.L., Sukoff Rizzo, S.J., Berger, Z., Chen, Y., Gonzales, C., Kaftan, E., Li, L., Lotarski, S., Monaghan, M., Shen, W., et al. (2013) Behavioral characterization of A53T mice reveals early and late stage deficits related to Parkinson's disease. PLoS One, 8, e70274.
-
(2013)
PLoS One
, vol.8
-
-
Paumier, K.L.1
Sukoff Rizzo, S.J.2
Berger, Z.3
Chen, Y.4
Gonzales, C.5
Kaftan, E.6
Li, L.7
Lotarski, S.8
Monaghan, M.9
Shen, W.10
-
36
-
-
77951201412
-
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
-
Passini, M.A., Bu, J., Roskelley, E.M., Richards, A.M., Sardi, S.P., O'Riordan, C.R., Klinger, K.W., Shihabuddin, L.S. and Cheng, S.H. (2010) CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J. Clin. Invest., 120, 1253-1264.
-
(2010)
J. Clin. Invest
, vol.120
, pp. 1253-1264
-
-
Passini, M.A.1
Bu, J.2
Roskelley, E.M.3
Richards, A.M.4
Sardi, S.P.5
O'Riordan, C.R.6
Klinger, K.W.7
Shihabuddin, L.S.8
Cheng, S.H.9
-
37
-
-
84893808994
-
RIPK3 as a potential therapeutic target for Gaucher's disease
-
Vitner, E.B., Salomon, R., Farfel-Becker, T., Meshcheriakova, A., Ali, M., Klein, A.D., Platt, F.M., Cox, T.M. and Futerman, A.H. (2014) RIPK3 as a potential therapeutic target for Gaucher's disease. Nat. Med., 20, 204-208.
-
(2014)
Nat. Med
, vol.20
, pp. 204-208
-
-
Vitner, E.B.1
Salomon, R.2
Farfel-Becker, T.3
Meshcheriakova, A.4
Ali, M.5
Klein, A.D.6
Platt, F.M.7
Cox, T.M.8
Futerman, A.H.9
-
38
-
-
84893009529
-
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration
-
Farfel-Becker, T., Vitner, E.B., Kelly, S.L., Bame, J.R., Duan, J., Shinder, V., Merrill, A.H., Jr., Dobrenis, K. and Futerman, A.H. (2014) Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration. Hum. Mol. Genet., 23, 843-854.
-
(2014)
Hum. Mol. Genet
, vol.23
, pp. 843-854
-
-
Farfel-Becker, T.1
Vitner, E.B.2
Kelly, S.L.3
Bame, J.R.4
Duan, J.5
Shinder, V.6
Merrill, A.H.7
Dobrenis, K.8
Futerman, A.H.9
-
39
-
-
83255164913
-
Analysis of striatal transcriptome in mice overexpressing human wild-type alpha-synuclein supports synaptic dysfunction and suggests mechanisms of neuroprotection for striatal neurons
-
Cabeza-Arvelaiz, Y., Fleming, S.M., Richter, F., Masliah, E., Chesselet, M.F. and Schiestl, R.H. (2011) Analysis of striatal transcriptome in mice overexpressing human wild-type alpha-synuclein supports synaptic dysfunction and suggests mechanisms of neuroprotection for striatal neurons. Mol. Neurodegener., 6, 83.
-
(2011)
Mol. Neurodegener
, vol.6
, pp. 83
-
-
Cabeza-Arvelaiz, Y.1
Fleming, S.M.2
Richter, F.3
Masliah, E.4
Chesselet, M.F.5
Schiestl, R.H.6
-
40
-
-
30744451670
-
Robust dysregulation of gene expression in substantia nigra and striatum in Parkinson's disease
-
Miller, R.M., Kiser, G.L., Kaysser-Kranich, T.M., Lockner, R.J., Palaniappan, C. and Federoff, H.J. (2006) Robust dysregulation of gene expression in substantia nigra and striatum in Parkinson's disease. Neurobiol. Dis., 21, 305-313.
-
(2006)
Neurobiol. Dis
, vol.21
, pp. 305-313
-
-
Miller, R.M.1
Kiser, G.L.2
Kaysser-Kranich, T.M.3
Lockner, R.J.4
Palaniappan, C.5
Federoff, H.J.6
-
41
-
-
0036605566
-
Differential neuropathological alterations in transgenic mice expressing alphasynuclein from the platelet-derived growth factor and Thy-1 promoters
-
Rockenstein, E., Mallory, M., Hashimoto, M., Song, D., Shults, C.W., Lang, I. and Masliah, E. (2002) Differential neuropathological alterations in transgenic mice expressing alphasynuclein from the platelet-derived growth factor and Thy-1 promoters. J. Neurosci. Res., 68, 568-578.
-
(2002)
J. Neurosci. Res
, vol.68
, pp. 568-578
-
-
Rockenstein, E.1
Mallory, M.2
Hashimoto, M.3
Song, D.4
Shults, C.W.5
Lang, I.6
Masliah, E.7
-
42
-
-
84859712842
-
A progressive mouse model of Parkinson's disease: the Thy1-aSyn ("Line 61") mice
-
Chesselet, M.F., Richter, F., Zhu, C., Magen, I., Watson, M.B. and Subramaniam, S.R. (2012) A progressive mouse model of Parkinson's disease: the Thy1-aSyn ("Line 61") mice. Neurotherapeutics, 9, 297-314.
-
(2012)
Neurotherapeutics
, vol.9
, pp. 297-314
-
-
Chesselet, M.F.1
Richter, F.2
Zhu, C.3
Magen, I.4
Watson, M.B.5
Subramaniam, S.R.6
-
43
-
-
79960009804
-
Gaucher disease glucocerebrosidase and alphasynuclein form a bidirectional pathogenic loop in synucleinopathies
-
Mazzulli, J.R., Xu, Y.H., Sun, Y., Knight, A.L., McLean, P.J., Caldwell, G.A., Sidransky, E., Grabowski, G.A. and Krainc, D. (2011) Gaucher disease glucocerebrosidase and alphasynuclein form a bidirectional pathogenic loop in synucleinopathies. Cell, 146, 37-52.
-
(2011)
Cell
, vol.146
, pp. 37-52
-
-
Mazzulli, J.R.1
Xu, Y.H.2
Sun, Y.3
Knight, A.L.4
McLean, P.J.5
Caldwell, G.A.6
Sidransky, E.7
Grabowski, G.A.8
Krainc, D.9
-
44
-
-
84871720426
-
Membrane-bound alpha-synuclein interacts with glucocerebrosidase and inhibits enzyme activity
-
Yap, T.L., Velayati, A., Sidransky, E. and Lee, J.C. (2013) Membrane-bound alpha-synuclein interacts with glucocerebrosidase and inhibits enzyme activity. Mol. Genet. Metab., 108, 56-64.
-
(2013)
Mol. Genet. Metab
, vol.108
, pp. 56-64
-
-
Yap, T.L.1
Velayati, A.2
Sidransky, E.3
Lee, J.C.4
-
45
-
-
84941123145
-
Transgenic rodent models to study alpha-synuclein pathogenesis, with a focus on cognitive deficits
-
Hatami, A. and Chesselet, M.F. (2015) Transgenic rodent models to study alpha-synuclein pathogenesis, with a focus on cognitive deficits. Curr. Topics Behav. Neurosci., 22, 303-330.
-
(2015)
Curr. Topics Behav. Neurosci
, vol.22
, pp. 303-330
-
-
Hatami, A.1
Chesselet, M.F.2
-
46
-
-
0030882856
-
Alpha-synuclein in Lewy bodies
-
Spillantini, M.G., Schmidt, M.L., Lee, V.M., Trojanowski, J.Q., Jakes, R. and Goedert, M. (1997) Alpha-synuclein in Lewy bodies. Nature, 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
-
47
-
-
84872006260
-
Time course and progression of wild type alpha-synuclein accumulation in a transgenic mouse model
-
Amschl, D., Neddens, J., Havas, D., Flunkert, S., Rabl, R., Romer, H., Rockenstein, E., Masliah, E., Windisch, M. and Hutter-Paier, B. (2013) Time course and progression of wild type alpha-synuclein accumulation in a transgenic mouse model. BMC Neuroscience, 14, 6.
-
(2013)
BMC Neuroscience
, vol.14
, pp. 6
-
-
Amschl, D.1
Neddens, J.2
Havas, D.3
Flunkert, S.4
Rabl, R.5
Romer, H.6
Rockenstein, E.7
Masliah, E.8
Windisch, M.9
Hutter-Paier, B.10
-
48
-
-
84929880464
-
Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease
-
Laguna, A., Schintu, N., Nobre, A., Alvarsson, A., Volakakis, N., Jacobsen, J.K., Gomez-Galan, M., Sopova, E., Joodmardi, E., Yoshitake, T., et al. (2015) Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease. Nat. Neurosci., 18, 826-835.
-
(2015)
Nat. Neurosci
, vol.18
, pp. 826-835
-
-
Laguna, A.1
Schintu, N.2
Nobre, A.3
Alvarsson, A.4
Volakakis, N.5
Jacobsen, J.K.6
Gomez-Galan, M.7
Sopova, E.8
Joodmardi, E.9
Yoshitake, T.10
-
49
-
-
77952926102
-
Clinical progression in Parkinson disease and the neurobiology of axons
-
Cheng, H.C., Ulane, C.M. and Burke, R.E. (2010) Clinical progression in Parkinson disease and the neurobiology of axons. Ann. Neurol., 67, 715-725.
-
(2010)
Ann. Neurol
, vol.67
, pp. 715-725
-
-
Cheng, H.C.1
Ulane, C.M.2
Burke, R.E.3
-
50
-
-
0037264650
-
Plasma membrane monoamine transporters: structure, regulation and function
-
Torres, G.E., Gainetdinov, R.R. and Caron, M.G. (2003) Plasma membrane monoamine transporters: structure, regulation and function. Nat. Rev. Neurosci., 4, 13-25.
-
(2003)
Nat. Rev. Neurosci
, vol.4
, pp. 13-25
-
-
Torres, G.E.1
Gainetdinov, R.R.2
Caron, M.G.3
-
51
-
-
84862569872
-
The function of tyrosine hydroxylase in the normal and Parkinsonian brain
-
Tolleson, C. and Claassen, D. (2012) The function of tyrosine hydroxylase in the normal and Parkinsonian brain. CNS Neurol. Disorders Drug Targets, 11, 381-386.
-
(2012)
CNS Neurol. Disorders Drug Targets
, vol.11
, pp. 381-386
-
-
Tolleson, C.1
Claassen, D.2
-
52
-
-
84878798127
-
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies
-
Nalls, M.A., Duran, R., Lopez, G., Kurzawa-Akanbi, M., McKeith, I.G., Chinnery, P.F., Morris, C.M., Theuns, J., Crosiers, D., Cras, P., et al. (2013) A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol., 70, 727-735.
-
(2013)
JAMA Neurol
, vol.70
, pp. 727-735
-
-
Nalls, M.A.1
Duran, R.2
Lopez, G.3
Kurzawa-Akanbi, M.4
McKeith, I.G.5
Chinnery, P.F.6
Morris, C.M.7
Theuns, J.8
Crosiers, D.9
Cras, P.10
-
53
-
-
71049138581
-
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism
-
Manning-Bog, A.B., Schule, B. and Langston, J.W. (2009) Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology, 30, 1127-1132.
-
(2009)
Neurotoxicology
, vol.30
, pp. 1127-1132
-
-
Manning-Bog, A.B.1
Schule, B.2
Langston, J.W.3
-
54
-
-
84860216725
-
Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models
-
Sardi, S.P., Singh, P., Cheng, S.H., Shihabuddin, L.S. and Schlossmacher, M.G. (2012) Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models. Neurodegener. Dis., 10, 195-202.
-
(2012)
Neurodegener. Dis
, vol.10
, pp. 195-202
-
-
Sardi, S.P.1
Singh, P.2
Cheng, S.H.3
Shihabuddin, L.S.4
Schlossmacher, M.G.5
-
55
-
-
84940770418
-
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations
-
Alcalay, R.N., Levy, O.A., Waters, C.C., Fahn, S., Ford, B., Kuo, S.H., Mazzoni, P., Pauciulo, M.W., Nichols, W.C., Gan-Or, Z., et al. (2015) Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. Brain, 138, 2648-2658.
-
(2015)
Brain
, vol.138
, pp. 2648-2658
-
-
Alcalay, R.N.1
Levy, O.A.2
Waters, C.C.3
Fahn, S.4
Ford, B.5
Kuo, S.H.6
Mazzoni, P.7
Pauciulo, M.W.8
Nichols, W.C.9
Gan-Or, Z.10
-
56
-
-
84902201548
-
iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis
-
Schondorf, D.C., Aureli, M., McAllister, F.E., Hindley, C.J., Mayer, F., Schmid, B., Sardi, S.P., Valsecchi, M., Hoffmann, S., Schwarz, L.K., et al. (2014) iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis. Nat. Commun, 5, 4028.
-
(2014)
Nat. Commun
, vol.5
, pp. 4028
-
-
Schondorf, D.C.1
Aureli, M.2
McAllister, F.E.3
Hindley, C.J.4
Mayer, F.5
Schmid, B.6
Sardi, S.P.7
Valsecchi, M.8
Hoffmann, S.9
Schwarz, L.K.10
-
57
-
-
0036847353
-
Glucosylceramide modulates membrane traffic along the endocytic pathway
-
Sillence, D.J., Puri, V., Marks, D.L., Butters, T.D., Dwek, R.A., Pagano, R.E. and Platt, F.M. (2002) Glucosylceramide modulates membrane traffic along the endocytic pathway. J. Lipid Res., 43, 1837-1845.
-
(2002)
J. Lipid Res
, vol.43
, pp. 1837-1845
-
-
Sillence, D.J.1
Puri, V.2
Marks, D.L.3
Butters, T.D.4
Dwek, R.A.5
Pagano, R.E.6
Platt, F.M.7
-
58
-
-
84943773762
-
Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells
-
Awad, O., Sarkar, C., Panicker, L.M., Miller, D., Zeng, X., Sgambato, J.A., Lipinski, M.M. and Feldman, R.A. (2015) Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells. Hum. Mol. Genet., 24, 5775-5788.
-
(2015)
Hum. Mol. Genet
, vol.24
, pp. 5775-5788
-
-
Awad, O.1
Sarkar, C.2
Panicker, L.M.3
Miller, D.4
Zeng, X.5
Sgambato, J.A.6
Lipinski, M.M.7
Feldman, R.A.8
-
59
-
-
84958110808
-
Endoplasmic reticulum and lysosomal Ca (2+) stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts
-
Kilpatrick, B.S., Magalhaes, J., Beavan, M.S., McNeill, A., Gegg, M.E., Cleeter, M.W., Bloor-Young, D., Churchill, G.C., Duchen, M.R., Schapira, A.H., et al. (2016) Endoplasmic reticulum and lysosomal Ca (2+) stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts. Cell Calcium, 59, 12-20.
-
(2016)
Cell Calcium
, vol.59
, pp. 12-20
-
-
Kilpatrick, B.S.1
Magalhaes, J.2
Beavan, M.S.3
McNeill, A.4
Gegg, M.E.5
Cleeter, M.W.6
Bloor-Young, D.7
Churchill, G.C.8
Duchen, M.R.9
Schapira, A.H.10
-
60
-
-
84884250340
-
The function of alpha-synuclein
-
Bendor, J.T., Logan, T.P. and Edwards, R.H. (2013) The function of alpha-synuclein. Neuron, 79, 1044-1066.
-
(2013)
Neuron
, vol.79
, pp. 1044-1066
-
-
Bendor, J.T.1
Logan, T.P.2
Edwards, R.H.3
-
61
-
-
84923362547
-
Lipid vesicles trigger alpha-synuclein aggregation by stimulating primary nucleation
-
Galvagnion, C., Buell, A.K., Meisl, G., Michaels, T.C., Vendruscolo, M., Knowles, T.P. and Dobson, C.M. (2015) Lipid vesicles trigger alpha-synuclein aggregation by stimulating primary nucleation. Nat. Chem. Biol., 11, 229-234.
-
(2015)
Nat. Chem. Biol
, vol.11
, pp. 229-234
-
-
Galvagnion, C.1
Buell, A.K.2
Meisl, G.3
Michaels, T.C.4
Vendruscolo, M.5
Knowles, T.P.6
Dobson, C.M.7
-
62
-
-
84922971361
-
Evolution of prodromal clinical markers of parkinson disease in a GBA mutation-positive cohort
-
Beavan, M., McNeill, A., Proukakis, C., Hughes, D.A., Mehta, A. and Schapira, A.H. (2015) Evolution of prodromal clinical markers of parkinson disease in a GBA mutation-positive cohort. JAMA Neurol., 72, 201-208.
-
(2015)
JAMA Neurol
, vol.72
, pp. 201-208
-
-
Beavan, M.1
McNeill, A.2
Proukakis, C.3
Hughes, D.A.4
Mehta, A.5
Schapira, A.H.6
-
63
-
-
84890440817
-
BDNF and memory processing
-
Bekinschtein, P., Cammarota, M. and Medina, J.H. (2014) BDNF and memory processing. Neuropharmacology, 76(Pt C), 677-683.
-
(2014)
Neuropharmacology
, vol.76
, pp. 677-683
-
-
Bekinschtein, P.1
Cammarota, M.2
Medina, J.H.3
-
64
-
-
84920933104
-
Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease
-
Vairo, F., Sperb-Ludwig, F., Wilke, M., Michellin-Tirelli, K., Netto, C., Neto, E.C. and Doederlein Schwartz, I.V. (2015) Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease. J. Neuroimmunol., 278, 190-193.
-
(2015)
J. Neuroimmunol
, vol.278
, pp. 190-193
-
-
Vairo, F.1
Sperb-Ludwig, F.2
Wilke, M.3
Michellin-Tirelli, K.4
Netto, C.5
Neto, E.C.6
Doederlein Schwartz, I.V.7
-
65
-
-
33847652900
-
Autophagy and neurodegeneration: when the cleaning crew goes on strike
-
Martinez-Vicente, M. and Cuervo, A.M. (2007) Autophagy and neurodegeneration: when the cleaning crew goes on strike. Lancet. Neurol., 6, 352-361.
-
(2007)
Lancet. Neurol
, vol.6
, pp. 352-361
-
-
Martinez-Vicente, M.1
Cuervo, A.M.2
-
66
-
-
84861563520
-
Direct observation of the interconversion of normal and toxic forms of alpha-synuclein
-
Cremades, N., Cohen, S.I., Deas, E., Abramov, A.Y., Chen, A.Y., Orte, A., Sandal, M., Clarke, R.W., Dunne, P., Aprile, F.A., et al. (2012) Direct observation of the interconversion of normal and toxic forms of alpha-synuclein. Cell, 149, 1048-1059.
-
(2012)
Cell
, vol.149
, pp. 1048-1059
-
-
Cremades, N.1
Cohen, S.I.2
Deas, E.3
Abramov, A.Y.4
Chen, A.Y.5
Orte, A.6
Sandal, M.7
Clarke, R.W.8
Dunne, P.9
Aprile, F.A.10
-
67
-
-
81455128242
-
Animal models for Gaucher disease research
-
Farfel-Becker, T., Vitner, E.B. and Futerman, A.H. (2011) Animal models for Gaucher disease research. Dis. Model Mech., 4, 746-752.
-
(2011)
Dis. Model Mech
, vol.4
, pp. 746-752
-
-
Farfel-Becker, T.1
Vitner, E.B.2
Futerman, A.H.3
-
68
-
-
0343052652
-
Pole test is a useful method for evaluating the mouse movement disorder caused by striatal dopamine depletion
-
Matsuura, K., Kabuto, H., Makino, H. and Ogawa, N. (1997) Pole test is a useful method for evaluating the mouse movement disorder caused by striatal dopamine depletion. J. Neurosci. Methods, 73, 45-48.
-
(1997)
J. Neurosci. Methods
, vol.73
, pp. 45-48
-
-
Matsuura, K.1
Kabuto, H.2
Makino, H.3
Ogawa, N.4
-
69
-
-
7044270767
-
Early and progressive sensorimotor anomalies in mice overexpressing wild-type human alpha-synuclein
-
Fleming, S.M., Salcedo, J., Fernagut, P.O., Rockenstein, E., Masliah, E., Levine, M.S. and Chesselet, M.F. (2004) Early and progressive sensorimotor anomalies in mice overexpressing wild-type human alpha-synuclein. J. Neurosci., 24, 9434-9440.
-
(2004)
J. Neurosci
, vol.24
, pp. 9434-9440
-
-
Fleming, S.M.1
Salcedo, J.2
Fernagut, P.O.3
Rockenstein, E.4
Masliah, E.5
Levine, M.S.6
Chesselet, M.F.7
-
70
-
-
84901195245
-
Silencing mutant huntingtin by adeno-associated virus-mediated RNA interference ameliorates disease manifestations in the YAC128 mouse model of Huntington's disease
-
Stanek, L.M., Sardi, S.P., Mastis, B., Richards, A.R., Treleaven, C.M., Taksir, T., Misra, K., Cheng, S.H. and Shihabuddin, L.S. (2014) Silencing mutant huntingtin by adeno-associated virus-mediated RNA interference ameliorates disease manifestations in the YAC128 mouse model of Huntington's disease. Hum. Gene Ther., 25, 461-474.
-
(2014)
Hum. Gene Ther
, vol.25
, pp. 461-474
-
-
Stanek, L.M.1
Sardi, S.P.2
Mastis, B.3
Richards, A.R.4
Treleaven, C.M.5
Taksir, T.6
Misra, K.7
Cheng, S.H.8
Shihabuddin, L.S.9
-
71
-
-
0034681471
-
Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders
-
Masliah, E., Rockenstein, E., Veinbergs, I., Mallory, M., Hashimoto, M., Takeda, A., Sagara, Y., Sisk, A. and Mucke, L. (2000) Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders. Science, 287, 1265-1269.
-
(2000)
Science
, vol.287
, pp. 1265-1269
-
-
Masliah, E.1
Rockenstein, E.2
Veinbergs, I.3
Mallory, M.4
Hashimoto, M.5
Takeda, A.6
Sagara, Y.7
Sisk, A.8
Mucke, L.9
-
72
-
-
79955757052
-
Passive immunization reduces behavioral and neuropathological deficits in an alpha-synuclein transgenic model of Lewy body disease
-
Masliah, E., Rockenstein, E., Mante, M., Crews, L., Spencer, B., Adame, A., Patrick, C., Trejo, M., Ubhi, K., Rohn, T.T., et al. (2011) Passive immunization reduces behavioral and neuropathological deficits in an alpha-synuclein transgenic model of Lewy body disease. PLoS One, 6, e19338.
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(2011)
PLoS One
, vol.6
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Masliah, E.1
Rockenstein, E.2
Mante, M.3
Crews, L.4
Spencer, B.5
Adame, A.6
Patrick, C.7
Trejo, M.8
Ubhi, K.9
Rohn, T.T.10
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