-
1
-
-
84903179045
-
Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs
-
Aflaki, E., Stubblefield, B.K., Maniwang, E., Lopez, G., Moaven, N., Goldin, E., Marugan, J., Patnaik, S., Dutra, A., Southall, N., et al. Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs. Sci. Transl. Med., 6, 2014, 240ra73.
-
(2014)
Sci. Transl. Med.
, vol.6
, pp. 240ra73
-
-
Aflaki, E.1
Stubblefield, B.K.2
Maniwang, E.3
Lopez, G.4
Moaven, N.5
Goldin, E.6
Marugan, J.7
Patnaik, S.8
Dutra, A.9
Southall, N.10
-
2
-
-
84978826732
-
A new Glucocerebrosidase chaperone reduces α-Synuclein and glycolipid levels in iPSC-derived dopaminergic neurons from patients with Gaucher disease and parkinsonism
-
Aflaki, E., Borger, D.K., Moaven, N., Stubblefield, B.K., Rogers, S.A., Patnaik, S., Schoenen, F.J., Westbroek, W., Zheng, W., Sullivan, P., et al. A new Glucocerebrosidase chaperone reduces α-Synuclein and glycolipid levels in iPSC-derived dopaminergic neurons from patients with Gaucher disease and parkinsonism. J. Neurosci. 36 (2016), 7441–7452.
-
(2016)
J. Neurosci.
, vol.36
, pp. 7441-7452
-
-
Aflaki, E.1
Borger, D.K.2
Moaven, N.3
Stubblefield, B.K.4
Rogers, S.A.5
Patnaik, S.6
Schoenen, F.J.7
Westbroek, W.8
Zheng, W.9
Sullivan, P.10
-
3
-
-
7444237665
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
Aharon-Peretz, J., Rosenbaum, H., Gershoni-Baruch, R., Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 351 (2004), 1972–1977.
-
(2004)
N. Engl. J. Med.
, vol.351
, pp. 1972-1977
-
-
Aharon-Peretz, J.1
Rosenbaum, H.2
Gershoni-Baruch, R.3
-
4
-
-
78149469728
-
Chaperone-mediated autophagy markers in Parkinson disease brains
-
Alvarez-Erviti, L., Rodriguez-Oroz, M.C., Cooper, J.M., Caballero, C., Ferrer, I., Obeso, J.A., Schapira, A.H., Chaperone-mediated autophagy markers in Parkinson disease brains. Arch. Neurol. 67 (2010), 1464–1472.
-
(2010)
Arch. Neurol.
, vol.67
, pp. 1464-1472
-
-
Alvarez-Erviti, L.1
Rodriguez-Oroz, M.C.2
Cooper, J.M.3
Caballero, C.4
Ferrer, I.5
Obeso, J.A.6
Schapira, A.H.7
-
5
-
-
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., Feldman, R.A., Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells. Hum. Mol. Genet. 24 (2015), 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
-
6
-
-
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., Schapira, A.H., Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. JAMA Neurol. 72 (2015), 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
-
7
-
-
84968880358
-
Gaucher cells are not associated with α-synuclein neuropathology in infants
-
Berger-Sieczkowski, E., Lutz, M.I., Auff, E., Kovacs, G.G., Gaucher cells are not associated with α-synuclein neuropathology in infants. Clin. Neuropathol. 35 (2016), 122–128.
-
(2016)
Clin. Neuropathol.
, vol.35
, pp. 122-128
-
-
Berger-Sieczkowski, E.1
Lutz, M.I.2
Auff, E.3
Kovacs, G.G.4
-
8
-
-
0000216808
-
Gaucher disease
-
C.B.A. Scriver A.L. Beaudet W.S. Sly D. Valle McGraw-Hill
-
Beutler, E., Grabowski, G.A., Gaucher disease. Scriver, C.B.A., Beaudet, A.L., Sly, W.S., Valle, D., (eds.) The Metabolic & Molecular Bases of Inherited Disease, 2001, McGraw-Hill, 3635–3668.
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
9
-
-
84991254228
-
Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance
-
Blanz, J., Saftig, P., Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance. J. Neurochem. 139:Suppl 1 (2016), 198–215.
-
(2016)
J. Neurochem.
, vol.139
, pp. 198-215
-
-
Blanz, J.1
Saftig, P.2
-
10
-
-
85012065177
-
Alpha-Synuclein as a mediator in the interplay between aging and Parkinson's disease
-
Bobela, W., Aebischer, P., Schneider, B.L., Alpha-Synuclein as a mediator in the interplay between aging and Parkinson's disease. Biomolecules 5 (2015), 2675–2700.
-
(2015)
Biomolecules
, vol.5
, pp. 2675-2700
-
-
Bobela, W.1
Aebischer, P.2
Schneider, B.L.3
-
11
-
-
84873252663
-
Phenotype in patients with Gaucher disease and Parkinson disease
-
Chetrit, E.B., Alcalay, R.N., Steiner-Birmanns, B., Altarescu, G., Phillips, M., Elstein, D., Zimran, A., Phenotype in patients with Gaucher disease and Parkinson disease. Blood Cells Mol. Dis. 50 (2013), 218–221.
-
(2013)
Blood Cells Mol. Dis.
, vol.50
, pp. 218-221
-
-
Chetrit, E.B.1
Alcalay, R.N.2
Steiner-Birmanns, B.3
Altarescu, G.4
Phillips, M.5
Elstein, D.6
Zimran, A.7
-
12
-
-
33751118534
-
Age-associated increases of alpha-synuclein in monkeys and humans are associated with nigrostriatal dopamine depletion: Is this the target for Parkinson's disease?
-
Chu, Y., Kordower, J.H., Age-associated increases of alpha-synuclein in monkeys and humans are associated with nigrostriatal dopamine depletion: Is this the target for Parkinson's disease?. Neurobiol. Dis. 25 (2007), 134–149.
-
(2007)
Neurobiol. Dis.
, vol.25
, pp. 134-149
-
-
Chu, Y.1
Kordower, J.H.2
-
13
-
-
68149123529
-
Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusions
-
Chu, Y., Dodiya, H., Aebischer, P., Olanow, C.W., Kordower, J.H., Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusions. Neurobiol. Dis. 35 (2009), 385–398.
-
(2009)
Neurobiol. Dis.
, vol.35
, pp. 385-398
-
-
Chu, Y.1
Dodiya, H.2
Aebischer, P.3
Olanow, C.W.4
Kordower, J.H.5
-
14
-
-
84990249645
-
Survival and dementia in GBA-associated Parkinson's disease: the mutation matters
-
Cilia, R., Tunesi, S., Marotta, G., Cereda, E., Siri, C., Tesei, S., Zecchinelli, A.L., Canesi, M., Mariani, C.B., Meucci, N., et al. Survival and dementia in GBA-associated Parkinson's disease: the mutation matters. Ann. Neurol. 80 (2016), 662–673.
-
(2016)
Ann. Neurol.
, vol.80
, pp. 662-673
-
-
Cilia, R.1
Tunesi, S.2
Marotta, G.3
Cereda, E.4
Siri, C.5
Tesei, S.6
Zecchinelli, A.L.7
Canesi, M.8
Mariani, C.B.9
Meucci, N.10
-
15
-
-
84870671394
-
Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage
-
Cleeter, M.W., Chau, K.Y., Gluck, C., Mehta, A., Hughes, D.A., Duchen, M., Wood, N.W., Hardy, J., Mark Cooper, J., Schapira, A.H., Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem. Int. 62 (2013), 1–7.
-
(2013)
Neurochem. Int.
, vol.62
, pp. 1-7
-
-
Cleeter, M.W.1
Chau, K.Y.2
Gluck, C.3
Mehta, A.4
Hughes, D.A.5
Duchen, M.6
Wood, N.W.7
Hardy, J.8
Mark Cooper, J.9
Schapira, A.H.10
-
16
-
-
4344659685
-
Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy
-
Cuervo, A.M., Stefanis, L., Fredenburg, R., Lansbury, P.T., Sulzer, D., Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 305 (2004), 1292–1295.
-
(2004)
Science
, vol.305
, pp. 1292-1295
-
-
Cuervo, A.M.1
Stefanis, L.2
Fredenburg, R.3
Lansbury, P.T.4
Sulzer, D.5
-
17
-
-
79956199921
-
Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein 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. Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann. Neurol. 69 (2011), 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
-
18
-
-
84940614604
-
The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews
-
Dagan, E., Schlesinger, I., Ayoub, M., Mory, A., Nassar, M., Kurolap, A., Peretz-Aharon, J., Gershoni-Baruch, R., The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews. Parkinsonism Relat. Disord. 21 (2015), 1067–1071.
-
(2015)
Parkinsonism Relat. Disord.
, vol.21
, pp. 1067-1071
-
-
Dagan, E.1
Schlesinger, I.2
Ayoub, M.3
Mory, A.4
Nassar, M.5
Kurolap, A.6
Peretz-Aharon, J.7
Gershoni-Baruch, R.8
-
19
-
-
84980349922
-
LRRK2, GBA and SMPD1 founder mutations and Parkinson's disease in Ashkenazi Jews
-
Dagan, E., Schlesinger, I., Kurolap, A., Ayoub, M., Nassar, M., Peretz-Aharon, J., Gershoni-Baruch, R., LRRK2, GBA and SMPD1 founder mutations and Parkinson's disease in Ashkenazi Jews. Dement. Geriatr. Cogn. Disord. 42 (2016), 1–6.
-
(2016)
Dement. Geriatr. Cogn. Disord.
, vol.42
, pp. 1-6
-
-
Dagan, E.1
Schlesinger, I.2
Kurolap, A.3
Ayoub, M.4
Nassar, M.5
Peretz-Aharon, J.6
Gershoni-Baruch, R.7
-
20
-
-
84998694373
-
Association of GBA mutations and the E326K polymorphism with motor and cognitive progression in Parkinson disease
-
Davis, M.Y., Johnson, C.O., Leverenz, J.B., Weintraub, D., Trojanowski, J.Q., Chen-Plotkin, A., Van Deerlin, V.M., Quinn, J.F., Chung, K.A., Peterson-Hiller, A.L., et al. Association of GBA mutations and the E326K polymorphism with motor and cognitive progression in Parkinson disease. JAMA Neurol. 73 (2016), 1217–1224.
-
(2016)
JAMA Neurol.
, vol.73
, pp. 1217-1224
-
-
Davis, M.Y.1
Johnson, C.O.2
Leverenz, J.B.3
Weintraub, D.4
Trojanowski, J.Q.5
Chen-Plotkin, A.6
Van Deerlin, V.M.7
Quinn, J.F.8
Chung, K.A.9
Peterson-Hiller, A.L.10
-
21
-
-
84877351078
-
TFEB-mediated autophagy rescues midbrain dopamine neurons from α-synuclein toxicity
-
Decressac, M., Mattsson, B., Weikop, P., Lundblad, M., Jakobsson, J., Björklund, A., TFEB-mediated autophagy rescues midbrain dopamine neurons from α-synuclein toxicity. Proc. Natl. Acad. Sci. USA 110 (2013), E1817–E1826.
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. E1817-E1826
-
-
Decressac, M.1
Mattsson, B.2
Weikop, P.3
Lundblad, M.4
Jakobsson, J.5
Björklund, A.6
-
22
-
-
84875967929
-
Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells
-
Dermentzaki, G., Dimitriou, E., Xilouri, M., Michelakakis, H., Stefanis, L., Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. PLoS ONE, 8, 2013, e60674.
-
(2013)
PLoS ONE
, vol.8
, pp. e60674
-
-
Dermentzaki, G.1
Dimitriou, E.2
Xilouri, M.3
Michelakakis, H.4
Stefanis, L.5
-
23
-
-
84960803232
-
ER stress and autophagic perturbations lead to elevated extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-derived dopamine neurons
-
Fernandes, H.J., Hartfield, E.M., Christian, H.C., Emmanoulidou, E., Zheng, Y., Booth, H., Bogetofte, H., Lang, C., Ryan, B.J., Sardi, S.P., et al. ER stress and autophagic perturbations lead to elevated extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-derived dopamine neurons. Stem Cell Reports 6 (2016), 342–356.
-
(2016)
Stem Cell Reports
, vol.6
, pp. 342-356
-
-
Fernandes, H.J.1
Hartfield, E.M.2
Christian, H.C.3
Emmanoulidou, E.4
Zheng, Y.5
Booth, H.6
Bogetofte, H.7
Lang, C.8
Ryan, B.J.9
Sardi, S.P.10
-
24
-
-
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., Orr-Urtreger, A., Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology 84 (2015), 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
-
25
-
-
84864767860
-
Identification of embryonic stem cell-derived midbrain dopaminergic neurons for engraftment
-
Ganat, Y.M., Calder, E.L., Kriks, S., Nelander, J., Tu, E.Y., Jia, F., Battista, D., Harrison, N., Parmar, M., Tomishima, M.J., et al. Identification of embryonic stem cell-derived midbrain dopaminergic neurons for engraftment. J. Clin. Invest. 122 (2012), 2928–2939.
-
(2012)
J. Clin. Invest.
, vol.122
, pp. 2928-2939
-
-
Ganat, Y.M.1
Calder, E.L.2
Kriks, S.3
Nelander, J.4
Tu, E.Y.5
Jia, F.6
Battista, D.7
Harrison, N.8
Parmar, M.9
Tomishima, M.J.10
-
26
-
-
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., Schapira, A.H., Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann. Neurol. 72 (2012), 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
-
27
-
-
10844278246
-
Parkinsonism among Gaucher disease carriers
-
Goker-Alpan, O., Schiffmann, R., LaMarca, M.E., Nussbaum, R.L., McInerney-Leo, A., Sidransky, E., Parkinsonism among Gaucher disease carriers. J. Med. Genet. 41 (2004), 937–940.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 937-940
-
-
Goker-Alpan, O.1
Schiffmann, R.2
LaMarca, M.E.3
Nussbaum, R.L.4
McInerney-Leo, A.5
Sidransky, E.6
-
28
-
-
54049097933
-
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
-
Goker-Alpan, O., Lopez, G., Vithayathil, J., Davis, J., Hallett, M., Sidransky, E., The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch. Neurol. 65 (2008), 1353–1357.
-
(2008)
Arch. Neurol.
, vol.65
, pp. 1353-1357
-
-
Goker-Alpan, O.1
Lopez, G.2
Vithayathil, J.3
Davis, J.4
Hallett, M.5
Sidransky, E.6
-
29
-
-
84864659715
-
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow
-
Goker-Alpan, O., Masdeu, J.C., Kohn, P.D., Ianni, A., Lopez, G., Groden, C., Chapman, M.C., Cropp, B., Eisenberg, D.P., Maniwang, E.D., et al. The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow. Brain 135 (2012), 2440–2448.
-
(2012)
Brain
, vol.135
, pp. 2440-2448
-
-
Goker-Alpan, O.1
Masdeu, J.C.2
Kohn, P.D.3
Ianni, A.4
Lopez, G.5
Groden, C.6
Chapman, M.C.7
Cropp, B.8
Eisenberg, D.P.9
Maniwang, E.D.10
-
30
-
-
84855845987
-
High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase
-
Goldin, E., Zheng, W., Motabar, O., Southall, N., Choi, J.H., Marugan, J., Austin, C.P., Sidransky, E., High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase. PLoS ONE, 7, 2012, e29861.
-
(2012)
PLoS ONE
, vol.7
, pp. e29861
-
-
Goldin, E.1
Zheng, W.2
Motabar, O.3
Southall, N.4
Choi, J.H.5
Marugan, J.6
Austin, C.P.7
Sidransky, E.8
-
31
-
-
84893669177
-
Lysosomal integral membrane protein-2: a new player in lysosome-related pathology
-
Gonzalez, A., Valeiras, M., Sidransky, E., Tayebi, N., Lysosomal integral membrane protein-2: a new player in lysosome-related pathology. Mol. Genet. Metab. 111 (2014), 84–91.
-
(2014)
Mol. Genet. Metab.
, vol.111
, pp. 84-91
-
-
Gonzalez, A.1
Valeiras, M.2
Sidransky, E.3
Tayebi, N.4
-
32
-
-
84955290115
-
A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment
-
Gramlich, P.A., Westbroek, W., Feldman, R.A., Awad, O., Mello, N., Remington, M.P., Sun, Y., Zhang, W., Sidransky, E., Betenbaugh, M.J., Fishman, P.S., A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment. J. Biotechnol. 221 (2016), 1–12.
-
(2016)
J. Biotechnol.
, vol.221
, pp. 1-12
-
-
Gramlich, P.A.1
Westbroek, W.2
Feldman, R.A.3
Awad, O.4
Mello, N.5
Remington, M.P.6
Sun, Y.7
Zhang, W.8
Sidransky, E.9
Betenbaugh, M.J.10
Fishman, P.S.11
-
33
-
-
84922724492
-
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C
-
Gruschus, J.M., Jiang, Z., Yap, T.L., Hill, S.A., Grishaev, A., Piszczek, G., Sidransky, E., Lee, J.C., Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C. Biochem. Biophys. Res. Commun. 457 (2015), 561–566.
-
(2015)
Biochem. Biophys. Res. Commun.
, vol.457
, pp. 561-566
-
-
Gruschus, J.M.1
Jiang, Z.2
Yap, T.L.3
Hill, S.A.4
Grishaev, A.5
Piszczek, G.6
Sidransky, E.7
Lee, J.C.8
-
34
-
-
84961655033
-
Delivery of therapeutic proteins via extracellular vesicles: review and potential treatments for Parkinson's disease, Glioma, and Schwannoma
-
Hall, J., Prabhakar, S., Balaj, L., Lai, C.P., Cerione, R.A., Breakefield, X.O., Delivery of therapeutic proteins via extracellular vesicles: review and potential treatments for Parkinson's disease, Glioma, and Schwannoma. Cell. Mol. Neurobiol. 36 (2016), 417–427.
-
(2016)
Cell. Mol. Neurobiol.
, vol.36
, pp. 417-427
-
-
Hall, J.1
Prabhakar, S.2
Balaj, L.3
Lai, C.P.4
Cerione, R.A.5
Breakefield, X.O.6
-
35
-
-
84991235229
-
New directions in Gaucher disease
-
Horowitz, M., Elstein, D., Zimran, A., Goker-Alpan, O., New directions in Gaucher disease. Hum. Mutat. 37 (2016), 1121–1136.
-
(2016)
Hum. Mutat.
, vol.37
, pp. 1121-1136
-
-
Horowitz, M.1
Elstein, D.2
Zimran, A.3
Goker-Alpan, O.4
-
36
-
-
84964555624
-
Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease
-
Jung, O., Patnaik, S., Marugan, J., Sidransky, E., Westbroek, W., Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease. Expert Rev. Proteomics 13 (2016), 471–479.
-
(2016)
Expert Rev. Proteomics
, vol.13
, pp. 471-479
-
-
Jung, O.1
Patnaik, S.2
Marugan, J.3
Sidransky, E.4
Westbroek, W.5
-
37
-
-
77949643182
-
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
-
Khanna, R., Benjamin, E.R., Pellegrino, L., Schilling, A., Rigat, B.A., Soska, R., Nafar, H., Ranes, B.E., Feng, J., Lun, Y., et al. The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J. 277 (2010), 1618–1638.
-
(2010)
FEBS J.
, vol.277
, pp. 1618-1638
-
-
Khanna, R.1
Benjamin, E.R.2
Pellegrino, L.3
Schilling, A.4
Rigat, B.A.5
Soska, R.6
Nafar, H.7
Ranes, B.E.8
Feng, J.9
Lun, Y.10
-
38
-
-
0032742098
-
Release of calcium from stores alters the morphology of dendritic spines in cultured hippocampal neurons
-
Korkotian, E., Segal, M., Release of calcium from stores alters the morphology of dendritic spines in cultured hippocampal neurons. Proc. Natl. Acad. Sci. USA 96 (1999), 12068–12072.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 12068-12072
-
-
Korkotian, E.1
Segal, M.2
-
39
-
-
84995745476
-
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's
-
Liu, G., Boot, B., Locascio, J.J., Jansen, I.E., Winder-Rhodes, S., Eberly, S., Elbaz, A., Brice, A., Ravina, B., van Hilten, J.J., et al., International Genetics of Parkinson Disease Progression (IGPP) Consortium. Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's. Ann. Neurol. 80 (2016), 674–685.
-
(2016)
Ann. Neurol.
, vol.80
, pp. 674-685
-
-
Liu, G.1
Boot, B.2
Locascio, J.J.3
Jansen, I.E.4
Winder-Rhodes, S.5
Eberly, S.6
Elbaz, A.7
Brice, A.8
Ravina, B.9
van Hilten, J.J.10
-
40
-
-
85012094057
-
The interplay between Alpha-Synuclein clearance and spreading
-
Lopes da Fonseca, T., Villar-Piqué, A., Outeiro, T.F., The interplay between Alpha-Synuclein clearance and spreading. Biomolecules 5 (2015), 435–471.
-
(2015)
Biomolecules
, vol.5
, pp. 435-471
-
-
Lopes da Fonseca, T.1
Villar-Piqué, A.2
Outeiro, T.F.3
-
41
-
-
84986892467
-
Clinical course and prognosis in patients with Gaucher disease and parkinsonism
-
Lopez, G., Kim, J., Wiggs, E., Cintron, D., Groden, C., Tayebi, N., Mistry, P.K., Pastores, G.M., Zimran, A., Goker-Alpan, O., Sidransky, E., Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurol Genet, 2, 2016, e57.
-
(2016)
Neurol Genet
, vol.2
, pp. e57
-
-
Lopez, G.1
Kim, J.2
Wiggs, E.3
Cintron, D.4
Groden, C.5
Tayebi, N.6
Mistry, P.K.7
Pastores, G.M.8
Zimran, A.9
Goker-Alpan, O.10
Sidransky, E.11
-
42
-
-
84875549809
-
The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice
-
Luan, Z., Li, L., Higaki, K., Nanba, E., Suzuki, Y., Ohno, K., The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice. Brain Dev. 35 (2013), 317–322.
-
(2013)
Brain Dev.
, vol.35
, pp. 317-322
-
-
Luan, Z.1
Li, L.2
Higaki, K.3
Nanba, E.4
Suzuki, Y.5
Ohno, K.6
-
43
-
-
0346059412
-
Glucocerebrosidase mutations in subjects with parkinsonism
-
Lwin, A., Orvisky, E., Goker-Alpan, O., LaMarca, M.E., Sidransky, E., Glucocerebrosidase mutations in subjects with parkinsonism. Mol. Genet. Metab. 81 (2004), 70–73.
-
(2004)
Mol. Genet. Metab.
, vol.81
, pp. 70-73
-
-
Lwin, A.1
Orvisky, E.2
Goker-Alpan, O.3
LaMarca, M.E.4
Sidransky, E.5
-
44
-
-
69949119548
-
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
-
Maegawa, G.H., Tropak, M.B., Buttner, J.D., Rigat, B.A., Fuller, M., Pandit, D., Tang, L., Kornhaber, G.J., Hamuro, Y., Clarke, J.T., Mahuran, D.J., Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J. Biol. Chem. 284 (2009), 23502–23516.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 23502-23516
-
-
Maegawa, G.H.1
Tropak, M.B.2
Buttner, J.D.3
Rigat, B.A.4
Fuller, M.5
Pandit, D.6
Tang, L.7
Kornhaber, G.J.8
Hamuro, Y.9
Clarke, J.T.10
Mahuran, D.J.11
-
45
-
-
85011276948
-
GBA p.T369M substitution in Parkinson disease: polymorphism or association? A meta-analysis
-
Mallett, V., Ross, J.P., Alcalay, R.N., Ambalavanan, A., Sidransky, E., Dion, P.A., Rouleau, G.A., Gan-Or, Z., GBA p.T369M substitution in Parkinson disease: polymorphism or association? A meta-analysis. Neurol Genet, 2, 2016, e104.
-
(2016)
Neurol Genet
, vol.2
, pp. e104
-
-
Mallett, V.1
Ross, J.P.2
Alcalay, R.N.3
Ambalavanan, A.4
Sidransky, E.5
Dion, P.A.6
Rouleau, G.A.7
Gan-Or, Z.8
-
46
-
-
84875245748
-
Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data
-
Maniwang, E., Tayebi, N., Sidransky, E., Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data. Mol. Genet. Metab. 108 (2013), 269–271.
-
(2013)
Mol. Genet. Metab.
, vol.108
, pp. 269-271
-
-
Maniwang, E.1
Tayebi, N.2
Sidransky, E.3
-
47
-
-
71049138581
-
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism
-
Manning-Boğ, A.B., Schüle, B., Langston, J.W., Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology 30 (2009), 1127–1132.
-
(2009)
Neurotoxicology
, vol.30
, pp. 1127-1132
-
-
Manning-Boğ, A.B.1
Schüle, B.2
Langston, J.W.3
-
48
-
-
85003944903
-
SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease
-
Mao, C.Y., Yang, J., Wang, H., Zhang, S.Y., Yang, Z.H., Luo, H.Y., Li, F., Shi, M., Liu, Y.T., Zhuang, Z.P., et al. SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease. Parkinsonism Relat. Disord. 34 (2016), 59–61.
-
(2016)
Parkinsonism Relat. Disord.
, vol.34
, pp. 59-61
-
-
Mao, C.Y.1
Yang, J.2
Wang, H.3
Zhang, S.Y.4
Yang, Z.H.5
Luo, H.Y.6
Li, F.7
Shi, M.8
Liu, Y.T.9
Zhuang, Z.P.10
-
49
-
-
84883623100
-
Unfolded protein response in Gaucher disease: from human to Drosophila
-
Maor, G., Rencus-Lazar, S., Filocamo, M., Steller, H., Segal, D., Horowitz, M., Unfolded protein response in Gaucher disease: from human to Drosophila. Orphanet J. Rare Dis., 8, 2013, 140.
-
(2013)
Orphanet J. Rare Dis.
, vol.8
, pp. 140
-
-
Maor, G.1
Rencus-Lazar, S.2
Filocamo, M.3
Steller, H.4
Segal, D.5
Horowitz, M.6
-
50
-
-
85016007737
-
The contribution of mutant GBA to the development of Parkinson disease in Drosophila
-
Maor, G., Cabasso, O., Krivoruk, O., Rodriguez, J., Steller, H., Segal, D., Horowitz, M., The contribution of mutant GBA to the development of Parkinson disease in Drosophila. Hum. Mol. Genet. 25 (2016), 2712–2727.
-
(2016)
Hum. Mol. Genet.
, vol.25
, pp. 2712-2727
-
-
Maor, G.1
Cabasso, O.2
Krivoruk, O.3
Rodriguez, J.4
Steller, H.5
Segal, D.6
Horowitz, M.7
-
51
-
-
84990246154
-
Beyond Krabbe's disease: the potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies
-
Marshall, M.S., Bongarzone, E.R., Beyond Krabbe's disease: the potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies. J. Neurosci. Res. 94 (2016), 1328–1332.
-
(2016)
J. Neurosci. Res.
, vol.94
, pp. 1328-1332
-
-
Marshall, M.S.1
Bongarzone, E.R.2
-
52
-
-
84962771977
-
CNS-accessible inhibitor of glucosylceramide synthase for substrate reduction therapy of neuronopathic Gaucher disease
-
Marshall, J., Sun, Y., Bangari, D.S., Budman, E., Park, H., Nietupski, J.B., Allaire, A., Cromwell, M.A., Wang, B., Grabowski, G.A., et al. CNS-accessible inhibitor of glucosylceramide synthase for substrate reduction therapy of neuronopathic Gaucher disease. Mol. Ther. 24 (2016), 1019–1029.
-
(2016)
Mol. Ther.
, vol.24
, pp. 1019-1029
-
-
Marshall, J.1
Sun, Y.2
Bangari, D.S.3
Budman, E.4
Park, H.5
Nietupski, J.B.6
Allaire, A.7
Cromwell, M.A.8
Wang, B.9
Grabowski, G.A.10
-
53
-
-
84956702164
-
GBA variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease
-
Mata, I.F., Leverenz, J.B., Weintraub, D., Trojanowski, J.Q., Chen-Plotkin, A., Van Deerlin, V.M., Ritz, B., Rausch, R., Factor, S.A., Wood-Siverio, C., et al. GBA variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease. Mov. Disord. 31 (2016), 95–102.
-
(2016)
Mov. Disord.
, vol.31
, pp. 95-102
-
-
Mata, I.F.1
Leverenz, J.B.2
Weintraub, D.3
Trojanowski, J.Q.4
Chen-Plotkin, A.5
Van Deerlin, V.M.6
Ritz, B.7
Rausch, R.8
Factor, S.A.9
Wood-Siverio, C.10
-
54
-
-
79960009804
-
Gaucher disease glucocerebrosidase and α-synuclein 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., Krainc, D., Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146 (2011), 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
-
55
-
-
84958999192
-
α-Synuclein-induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models
-
Mazzulli, J.R., Zunke, F., Isacson, O., Studer, L., Krainc, D., α-Synuclein-induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models. Proc. Natl. Acad. Sci. USA 113 (2016), 1931–1936.
-
(2016)
Proc. Natl. Acad. Sci. USA
, vol.113
, pp. 1931-1936
-
-
Mazzulli, J.R.1
Zunke, F.2
Isacson, O.3
Studer, L.4
Krainc, D.5
-
56
-
-
84978758175
-
Activation of β-Glucocerebrosidase reduces pathological α-Synuclein and restores lysosomal function in Parkinson's patient midbrain neurons
-
Mazzulli, J.R., Zunke, F., Tsunemi, T., Toker, N.J., Jeon, S., Burbulla, L.F., Patnaik, S., Sidransky, E., Marugan, J.J., Sue, C.M., Krainc, D., Activation of β-Glucocerebrosidase reduces pathological α-Synuclein and restores lysosomal function in Parkinson's patient midbrain neurons. J. Neurosci. 36 (2016), 7693–7706.
-
(2016)
J. Neurosci.
, vol.36
, pp. 7693-7706
-
-
Mazzulli, J.R.1
Zunke, F.2
Tsunemi, T.3
Toker, N.J.4
Jeon, S.5
Burbulla, L.F.6
Patnaik, S.7
Sidransky, E.8
Marugan, J.J.9
Sue, C.M.10
Krainc, D.11
-
57
-
-
84938118051
-
Cysteine cathepsins are essential in lysosomal degradation of α-synuclein
-
McGlinchey, R.P., Lee, J.C., Cysteine cathepsins are essential in lysosomal degradation of α-synuclein. Proc. Natl. Acad. Sci. USA 112 (2015), 9322–9327.
-
(2015)
Proc. Natl. Acad. Sci. USA
, vol.112
, pp. 9322-9327
-
-
McGlinchey, R.P.1
Lee, J.C.2
-
58
-
-
84899819100
-
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
-
McNeill, A., Magalhaes, J., Shen, C., Chau, K.Y., Hughes, D., Mehta, A., Foltynie, T., Cooper, J.M., Abramov, A.Y., Gegg, M., Schapira, A.H., Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain 137 (2014), 1481–1495.
-
(2014)
Brain
, vol.137
, pp. 1481-1495
-
-
McNeill, A.1
Magalhaes, J.2
Shen, C.3
Chau, K.Y.4
Hughes, D.5
Mehta, A.6
Foltynie, T.7
Cooper, J.M.8
Abramov, A.Y.9
Gegg, M.10
Schapira, A.H.11
-
59
-
-
84858276817
-
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease
-
Michelakakis, H., Xiromerisiou, G., Dardiotis, E., Bozi, M., Vassilatis, D., Kountra, P.M., Patramani, G., Moraitou, M., Papadimitriou, D., Stamboulis, E., et al. Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease. Mov. Disord. 27 (2012), 400–405.
-
(2012)
Mov. Disord.
, vol.27
, pp. 400-405
-
-
Michelakakis, H.1
Xiromerisiou, G.2
Dardiotis, E.3
Bozi, M.4
Vassilatis, D.5
Kountra, P.M.6
Patramani, G.7
Moraitou, M.8
Papadimitriou, D.9
Stamboulis, E.10
-
60
-
-
84894528843
-
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease
-
Murphy, K.E., Gysbers, A.M., Abbott, S.K., Tayebi, N., Kim, W.S., Sidransky, E., Cooper, A., Garner, B., Halliday, G.M., Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease. Brain 137 (2014), 834–848.
-
(2014)
Brain
, vol.137
, pp. 834-848
-
-
Murphy, K.E.1
Gysbers, A.M.2
Abbott, S.K.3
Tayebi, N.4
Kim, W.S.5
Sidransky, E.6
Cooper, A.7
Garner, B.8
Halliday, G.M.9
-
61
-
-
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. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 70 (2013), 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
-
62
-
-
85009973979
-
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study
-
Narita, A., Shirai, K., Itamura, S., Matsuda, A., Ishihara, A., Matsushita, K., Fukuda, C., Kubota, N., Takayama, R., Shigematsu, H., et al. Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study. Ann. Clin. Transl. Neurol. 3 (2016), 200–215.
-
(2016)
Ann. Clin. Transl. Neurol.
, vol.3
, pp. 200-215
-
-
Narita, A.1
Shirai, K.2
Itamura, S.3
Matsuda, A.4
Ishihara, A.5
Matsushita, K.6
Fukuda, C.7
Kubota, N.8
Takayama, R.9
Shigematsu, H.10
-
63
-
-
0029773625
-
Occurrence of Parkinson's syndrome in type I Gaucher disease
-
Neudorfer, O., Giladi, N., Elstein, D., Abrahamov, A., Turezkite, T., Aghai, E., Reches, A., Bembi, B., Zimran, A., Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 89 (1996), 691–694.
-
(1996)
QJM
, vol.89
, pp. 691-694
-
-
Neudorfer, O.1
Giladi, N.2
Elstein, D.3
Abrahamov, A.4
Turezkite, T.5
Aghai, E.6
Reches, A.7
Bembi, B.8
Zimran, A.9
-
64
-
-
84863083762
-
Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase
-
Patnaik, S., Zheng, W., Choi, J.H., Motabar, O., Southall, N., Westbroek, W., Lea, W.A., Velayati, A., Goldin, E., Sidransky, E., et al. Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase. J. Med. Chem. 55 (2012), 5734–5748.
-
(2012)
J. Med. Chem.
, vol.55
, pp. 5734-5748
-
-
Patnaik, S.1
Zheng, W.2
Choi, J.H.3
Motabar, O.4
Southall, N.5
Westbroek, W.6
Lea, W.A.7
Velayati, A.8
Goldin, E.9
Sidransky, E.10
-
65
-
-
11844278539
-
Enhanced calcium release in the acute neuronopathic form of Gaucher disease
-
Pelled, D., Trajkovic-Bodennec, S., Lloyd-Evans, E., Sidransky, E., Schiffmann, R., Futerman, A.H., Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol. Dis. 18 (2005), 83–88.
-
(2005)
Neurobiol. Dis.
, vol.18
, pp. 83-88
-
-
Pelled, D.1
Trajkovic-Bodennec, S.2
Lloyd-Evans, E.3
Sidransky, E.4
Schiffmann, R.5
Futerman, A.H.6
-
66
-
-
84855444970
-
Biophysics of α-synuclein membrane interactions
-
Pfefferkorn, C.M., Jiang, Z., Lee, J.C., Biophysics of α-synuclein membrane interactions. Biochim. Biophys. Acta 1818 (2012), 162–171.
-
(2012)
Biochim. Biophys. Acta
, vol.1818
, pp. 162-171
-
-
Pfefferkorn, C.M.1
Jiang, Z.2
Lee, J.C.3
-
67
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos, M.H., Lavedan, C., Leroy, E., Ide, S.E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276 (1997), 2045–2047.
-
(1997)
Science
, vol.276
, pp. 2045-2047
-
-
Polymeropoulos, M.H.1
Lavedan, C.2
Leroy, E.3
Ide, S.E.4
Dehejia, A.5
Dutra, A.6
Pike, B.7
Root, H.8
Rubenstein, J.9
Boyer, R.10
-
68
-
-
85012093582
-
Seeking a mechanism for the toxicity of oligomeric α-synuclein
-
Roberts, H.L., Brown, D.R., Seeking a mechanism for the toxicity of oligomeric α-synuclein. Biomolecules 5 (2015), 282–305.
-
(2015)
Biomolecules
, vol.5
, pp. 282-305
-
-
Roberts, H.L.1
Brown, D.R.2
-
69
-
-
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., Isacson, O., Progressive decline of glucocerebrosidase in aging and Parkinson's disease. Ann. Clin. Transl. Neurol. 2 (2015), 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
-
70
-
-
85016028593
-
Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease
-
Rockenstein, E., Clarke, J., Viel, C., Panarello, N., Treleaven, C.M., Kim, C., Spencer, B., Adame, A., Park, H., Dodge, J.C., et al. Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease. Hum. Mol. Genet. 25 (2016), 2645–2660.
-
(2016)
Hum. Mol. Genet.
, vol.25
, pp. 2645-2660
-
-
Rockenstein, E.1
Clarke, J.2
Viel, C.3
Panarello, N.4
Treleaven, C.M.5
Kim, C.6
Spencer, B.7
Adame, A.8
Park, H.9
Dodge, J.C.10
-
71
-
-
78650821421
-
The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry
-
Rosenbloom, B., Balwani, M., Bronstein, J.M., Kolodny, E., Sathe, S., Gwosdow, A.R., Taylor, J.S., Cole, J.A., Zimran, A., Weinreb, N.J., The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells Mol. Dis. 46 (2011), 95–102.
-
(2011)
Blood Cells Mol. Dis.
, vol.46
, pp. 95-102
-
-
Rosenbloom, B.1
Balwani, M.2
Bronstein, J.M.3
Kolodny, E.4
Sathe, S.5
Gwosdow, A.R.6
Taylor, J.S.7
Cole, J.A.8
Zimran, A.9
Weinreb, N.J.10
-
72
-
-
84908282747
-
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance
-
Rothaug, M., Zunke, F., Mazzulli, J.R., Schweizer, M., Altmeppen, H., Lüllmann-Rauch, R., Kallemeijn, W.W., Gaspar, P., Aerts, J.M., Glatzel, M., et al. LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance. Proc. Natl. Acad. Sci. USA 111 (2014), 15573–15578.
-
(2014)
Proc. Natl. Acad. Sci. USA
, vol.111
, pp. 15573-15578
-
-
Rothaug, M.1
Zunke, F.2
Mazzulli, J.R.3
Schweizer, M.4
Altmeppen, H.5
Lüllmann-Rauch, R.6
Kallemeijn, W.W.7
Gaspar, P.8
Aerts, J.M.9
Glatzel, M.10
-
73
-
-
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. Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Proc. Natl. Acad. Sci. USA 110 (2013), 3537–3542.
-
(2013)
Proc. Natl. Acad. Sci. USA
, 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
-
74
-
-
84922216790
-
Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle
-
Sardi, S.P., Cheng, S.H., Shihabuddin, L.S., Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle. Prog. Neurobiol. 125 (2015), 47–62.
-
(2015)
Prog. Neurobiol.
, vol.125
, pp. 47-62
-
-
Sardi, S.P.1
Cheng, S.H.2
Shihabuddin, L.S.3
-
75
-
-
67749122634
-
A gene network regulating lysosomal biogenesis and function
-
Sardiello, M., Palmieri, M., di Ronza, A., Medina, D.L., Valenza, M., Gennarino, V.A., Di Malta, C., Donaudy, F., Embrione, V., Polishchuk, R.S., et al. A gene network regulating lysosomal biogenesis and function. Science 325 (2009), 473–477.
-
(2009)
Science
, vol.325
, pp. 473-477
-
-
Sardiello, M.1
Palmieri, M.2
di Ronza, A.3
Medina, D.L.4
Valenza, M.5
Gennarino, V.A.6
Di Malta, C.7
Donaudy, F.8
Embrione, V.9
Polishchuk, R.S.10
-
76
-
-
84929703186
-
Glucocerebrosidase and Parkinson disease: recent advances
-
Schapira, A.H., Glucocerebrosidase and Parkinson disease: recent advances. Mol. Cell. Neurosci. 66:Pt A (2015), 37–42.
-
(2015)
Mol. Cell. Neurosci.
, vol.66
, pp. 37-42
-
-
Schapira, A.H.1
-
77
-
-
84902201548
-
iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis
-
Schöndorf, 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. iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis. Nat. Commun., 5, 2014, 4028.
-
(2014)
Nat. Commun.
, vol.5
, pp. 4028
-
-
Schöndorf, 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
-
78
-
-
80655134725
-
TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes
-
Settembre, C., Ballabio, A., TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes. Autophagy 7 (2011), 1379–1381.
-
(2011)
Autophagy
, vol.7
, pp. 1379-1381
-
-
Settembre, C.1
Ballabio, A.2
-
79
-
-
84857997408
-
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
-
Settembre, C., Zoncu, R., Medina, D.L., Vetrini, F., Erdin, S., Erdin, S., Huynh, T., Ferron, M., Karsenty, G., Vellard, M.C., et al. A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. EMBO J. 31 (2012), 1095–1108.
-
(2012)
EMBO J.
, vol.31
, pp. 1095-1108
-
-
Settembre, C.1
Zoncu, R.2
Medina, D.L.3
Vetrini, F.4
Erdin, S.5
Erdin, S.6
Huynh, T.7
Ferron, M.8
Karsenty, G.9
Vellard, M.C.10
-
80
-
-
84878606239
-
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop
-
Settembre, C., De Cegli, R., Mansueto, G., Saha, P.K., Vetrini, F., Visvikis, O., Huynh, T., Carissimo, A., Palmer, D., Klisch, T.J., et al. TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nat. Cell Biol. 15 (2013), 647–658.
-
(2013)
Nat. Cell Biol.
, vol.15
, pp. 647-658
-
-
Settembre, C.1
De Cegli, R.2
Mansueto, G.3
Saha, P.K.4
Vetrini, F.5
Visvikis, O.6
Huynh, T.7
Carissimo, A.8
Palmer, D.9
Klisch, T.J.10
-
81
-
-
79960360692
-
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond
-
Shachar, T., Lo Bianco, C., Recchia, A., Wiessner, C., Raas-Rothschild, A., Futerman, A.H., Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond. Mov. Disord. 26 (2011), 1593–1604.
-
(2011)
Mov. Disord.
, vol.26
, pp. 1593-1604
-
-
Shachar, T.1
Lo Bianco, C.2
Recchia, A.3
Wiessner, C.4
Raas-Rothschild, A.5
Futerman, A.H.6
-
82
-
-
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. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 361 (2009), 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
-
83
-
-
84899818136
-
Glucocerebrosidase is shaking up the synucleinopathies
-
Siebert, M., Sidransky, E., Westbroek, W., Glucocerebrosidase is shaking up the synucleinopathies. Brain 137 (2014), 1304–1322.
-
(2014)
Brain
, vol.137
, pp. 1304-1322
-
-
Siebert, M.1
Sidransky, E.2
Westbroek, W.3
-
84
-
-
84973915581
-
The evolution of genetics: Alzheimer's and Parkinson's diseases
-
Singleton, A., Hardy, J., The evolution of genetics: Alzheimer's and Parkinson's diseases. Neuron 90 (2016), 1154–1163.
-
(2016)
Neuron
, vol.90
, pp. 1154-1163
-
-
Singleton, A.1
Hardy, J.2
-
85
-
-
84937730909
-
Alpha-synuclein function and dysfunction on cellular membranes
-
Snead, D., Eliezer, D., Alpha-synuclein function and dysfunction on cellular membranes. Exp. Neurobiol. 23 (2014), 292–313.
-
(2014)
Exp. Neurobiol.
, vol.23
, pp. 292-313
-
-
Snead, D.1
Eliezer, D.2
-
86
-
-
0030882856
-
Alpha-synuclein in Lewy bodies
-
Spillantini, M.G., Schmidt, M.L., Lee, V.M., Trojanowski, J.Q., Jakes, R., Goedert, M., Alpha-synuclein in Lewy bodies. Nature 388 (1997), 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
-
87
-
-
84863076106
-
Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease
-
Sun, Y., Liou, B., Xu, Y.H., Quinn, B., Zhang, W., Hamler, R., Setchell, K.D., Grabowski, G.A., Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease. J. Biol. Chem. 287 (2012), 4275–4287.
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 4275-4287
-
-
Sun, Y.1
Liou, B.2
Xu, Y.H.3
Quinn, B.4
Zhang, W.5
Hamler, R.6
Setchell, K.D.7
Grabowski, G.A.8
-
88
-
-
0034848419
-
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization
-
Tayebi, N., Callahan, M., Madike, V., Stubblefield, B.K., Orvisky, E., Krasnewich, D., Fillano, J.J., Sidransky, E., Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol. Genet. Metab. 73 (2001), 313–321.
-
(2001)
Mol. Genet. Metab.
, vol.73
, pp. 313-321
-
-
Tayebi, N.1
Callahan, M.2
Madike, V.3
Stubblefield, B.K.4
Orvisky, E.5
Krasnewich, D.6
Fillano, J.J.7
Sidransky, E.8
-
89
-
-
84986628114
-
Enzyme replacement or substrate reduction? A review of Gaucher disease treatment options
-
Van Rossum, A., Holsopple, M., Enzyme replacement or substrate reduction? A review of Gaucher disease treatment options. Hosp. Pharm. 51 (2016), 553–563.
-
(2016)
Hosp. Pharm.
, vol.51
, pp. 553-563
-
-
Van Rossum, A.1
Holsopple, M.2
-
90
-
-
80053912079
-
Effect of Ser-129 phosphorylation on interaction of α-synuclein with synaptic and cellular membranes
-
Visanji, N.P., Wislet-Gendebien, S., Oschipok, L.W., Zhang, G., Aubert, I., Fraser, P.E., Tandon, A., Effect of Ser-129 phosphorylation on interaction of α-synuclein with synaptic and cellular membranes. J. Biol. Chem. 286 (2011), 35863–35873.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 35863-35873
-
-
Visanji, N.P.1
Wislet-Gendebien, S.2
Oschipok, L.W.3
Zhang, G.4
Aubert, I.5
Fraser, P.E.6
Tandon, A.7
-
91
-
-
84921652104
-
The clinical management of Type 2 Gaucher disease
-
Weiss, K., Gonzalez, A.N., Lopez, G., Pedoeim, L., Groden, C., Sidransky, E., The clinical management of Type 2 Gaucher disease. Mol. Genet. Metab. 114 (2015), 110–122.
-
(2015)
Mol. Genet. Metab.
, vol.114
, pp. 110-122
-
-
Weiss, K.1
Gonzalez, A.N.2
Lopez, G.3
Pedoeim, L.4
Groden, C.5
Sidransky, E.6
-
92
-
-
84992535791
-
Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease
-
Wong, Y.C., Krainc, D., Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease. Mov. Disord. 31 (2016), 1610–1618.
-
(2016)
Mov. Disord.
, vol.31
, pp. 1610-1618
-
-
Wong, Y.C.1
Krainc, D.2
-
93
-
-
84912058317
-
iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease
-
Woodard, C.M., Campos, B.A., Kuo, S.H., Nirenberg, M.J., Nestor, M.W., Zimmer, M., Mosharov, E.V., Sulzer, D., Zhou, H., Paull, D., et al. iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease. Cell Rep. 9 (2014), 1173–1182.
-
(2014)
Cell Rep.
, vol.9
, pp. 1173-1182
-
-
Woodard, C.M.1
Campos, B.A.2
Kuo, S.H.3
Nirenberg, M.J.4
Nestor, M.W.5
Zimmer, M.6
Mosharov, E.V.7
Sulzer, D.8
Zhou, H.9
Paull, D.10
-
94
-
-
84969439344
-
Toxic oligomeric Alpha-Synuclein variants present in human Parkinson's disease brains are differentially generated in mammalian cell models
-
Xin, W., Emadi, S., Williams, S., Liu, Q., Schulz, P., He, P., Alam, N.B., Wu, J., Sierks, M.R., Toxic oligomeric Alpha-Synuclein variants present in human Parkinson's disease brains are differentially generated in mammalian cell models. Biomolecules 5 (2015), 1634–1651.
-
(2015)
Biomolecules
, vol.5
, pp. 1634-1651
-
-
Xin, W.1
Emadi, S.2
Williams, S.3
Liu, Q.4
Schulz, P.5
He, P.6
Alam, N.B.7
Wu, J.8
Sierks, M.R.9
-
95
-
-
79959925894
-
Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases
-
Yap, T.L., Gruschus, J.M., Velayati, A., Westbroek, W., Goldin, E., Moaven, N., Sidransky, E., Lee, J.C., Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. J. Biol. Chem. 286 (2011), 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
-
96
-
-
84886020944
-
Saposin C protects glucocerebrosidase against α-synuclein inhibition
-
Yap, T.L., Gruschus, J.M., Velayati, A., Sidransky, E., Lee, J.C., Saposin C protects glucocerebrosidase against α-synuclein inhibition. Biochemistry 52 (2013), 7161–7163.
-
(2013)
Biochemistry
, vol.52
, pp. 7161-7163
-
-
Yap, T.L.1
Gruschus, J.M.2
Velayati, A.3
Sidransky, E.4
Lee, J.C.5
-
97
-
-
84920913800
-
Structural features of membrane-bound glucocerebrosidase and α-synuclein probed by neutron reflectometry and fluorescence spectroscopy
-
Yap, T.L., Jiang, Z., Heinrich, F., Gruschus, J.M., Pfefferkorn, C.M., Barros, M., Curtis, J.E., Sidransky, E., Lee, J.C., Structural features of membrane-bound glucocerebrosidase and α-synuclein probed by neutron reflectometry and fluorescence spectroscopy. J. Biol. Chem. 290 (2015), 744–754.
-
(2015)
J. Biol. Chem.
, vol.290
, pp. 744-754
-
-
Yap, T.L.1
Jiang, Z.2
Heinrich, F.3
Gruschus, J.M.4
Pfefferkorn, C.M.5
Barros, M.6
Curtis, J.E.7
Sidransky, E.8
Lee, J.C.9
-
98
-
-
84871994423
-
Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease
-
Zimran, A., Altarescu, G., Elstein, D., Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol. Dis. 50 (2013), 134–137.
-
(2013)
Blood Cells Mol. Dis.
, vol.50
, pp. 134-137
-
-
Zimran, A.1
Altarescu, G.2
Elstein, D.3
|