-
1
-
-
0028852471
-
Gaucher disease
-
Hall, J.C. and Dunlap, J.C. (eds), Academic Press, Inc., San Diego, CA
-
Beutler, E. (1995) Gaucher disease. In Hall, J.C. and Dunlap, J.C. (eds), Advances in Genetics. Academic Press, Inc., San Diego, CA, Vol. 32, pp. 17-49.
-
(1995)
Advances in Genetics
, vol.32
, pp. 17-49
-
-
Beutler, E.1
-
2
-
-
0000216808
-
Gaucher disease
-
In Scriver, C.R., Sly, W.S., Childs, B., Beaudet, A.L., Valle, D., Kinzler and Vogelstein, K.W. (eds), McGraw-Hill, Inc., New York, NY
-
Beutler, E. and Grabowski, G.A. (2001) Gaucher disease. In Scriver, C.R., Sly, W.S., Childs, B., Beaudet, A.L., Valle, D., Kinzler and Vogelstein, K.W. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, Inc., New York, NY, Vol. II, pp. 3635-3668.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
3
-
-
2342633338
-
Lysosomal storage diseases
-
In Braunwald, E. and Fauci, A.S. (eds)
-
Grabowski, G.A. (2001) Lysosomal storage diseases. In Braunwald, E. and Fauci, A.S. (eds), Harrison's Principles of Internal Medicine, 15th edn. McGraw-Hill, Inc., New York, NY, pp. 2276-2281.
-
(2001)
Harrison's Principles of Internal Medicine
, pp. 2276-2281
-
-
Grabowski, G.A.1
-
4
-
-
50549198437
-
Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease
-
Brady, R.O., Kanfer, J.N. and Shapiro, D. (1965) Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem. Biophys. Res. Commun., 18, 221-225.
-
(1965)
Biochem. Biophys. Res. Commun.
, vol.18
, pp. 221-225
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
5
-
-
26444609722
-
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
-
Ron, I. and Horowitz, M. (2005) ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum. Mol. Genet., 14, 2387-2398.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2387-2398
-
-
Ron, I.1
Horowitz, M.2
-
6
-
-
0032441479
-
Ubiquitin and the control of protein fate in the secretory and endocytic pathways
-
Bonifacino, J.S. and Weissman, A.M. (1998) Ubiquitin and the control of protein fate in the secretory and endocytic pathways. Annu. Rev. Cell. Dev. Biol., 14, 19-57.
-
(1998)
Annu. Rev. Cell. Dev. Biol.
, vol.14
, pp. 19-57
-
-
Bonifacino, J.S.1
Weissman, A.M.2
-
7
-
-
0033208984
-
ER protein quality control and proteasome-mediated protein degradation
-
Brodsky, J.L. and McCracken, A.A. (1999) ER protein quality control and proteasome-mediated protein degradation. Semin. Cell. Dev. Biol., 10, 507-513.
-
(1999)
Semin. Cell. Dev. Biol.
, vol.10
, pp. 507-513
-
-
Brodsky, J.L.1
McCracken, A.A.2
-
8
-
-
0030949874
-
ER quality control: the cytoplasmic connection
-
Kopito, R.R. (1997) ER quality control: the cytoplasmic connection. Cell, 88, 427-430.
-
(1997)
Cell
, vol.88
, pp. 427-430
-
-
Kopito, R.R.1
-
9
-
-
0032535483
-
The ubiquitin-proteasome pathway: on protein death and cell life
-
Ciechanover, A. (1998) The ubiquitin-proteasome pathway: on protein death and cell life. EMBO J., 17, 7151-7160.
-
(1998)
EMBO J.
, vol.17
, pp. 7151-7160
-
-
Ciechanover, A.1
-
10
-
-
0034770604
-
Linking ubiquitin, parkin and synphilin-1
-
Ciechanover, A. (2001) Linking ubiquitin, parkin and synphilin-1. Nat. Med., 7, 1108-1109.
-
(2001)
Nat. Med.
, vol.7
, pp. 1108-1109
-
-
Ciechanover, A.1
-
11
-
-
0032539909
-
The ubiquitin-proteasome pathway: the complexity and myriad functions of proteins death
-
Ciechanover, A. and Schwartz, A.L. (1998) The ubiquitin-proteasome pathway: the complexity and myriad functions of proteins death. Proc. Natl Acad. Sci. USA, 95, 2727-2730.
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 2727-2730
-
-
Ciechanover, A.1
Schwartz, A.L.2
-
12
-
-
0020478717
-
Ubiquitin-activating enzyme
-
Haas, A.L., Warms, J.V., Hershko, A. and Rose, I.A. (1982) Ubiquitin-activating enzyme. Mechanism and role in protein-ubiquitin conjugation. J. Biol. Chem., 257, 2543-2548.
-
(1982)
Mechanism and role in protein-ubiquitin conjugation. J. Biol. Chem.
, vol.257
, pp. 2543-2548
-
-
Haas, A.L.1
Warms, J.V.2
Hershko, A.3
Rose, I.A.4
-
14
-
-
0034915764
-
Mechanisms underlying ubiquitination
-
Pickart, C.M. (2001) Mechanisms underlying ubiquitination. Annu. Rev. Biochem., 70, 503-533.
-
(2001)
Annu. Rev. Biochem.
, vol.70
, pp. 503-533
-
-
Pickart, C.M.1
-
15
-
-
8844237615
-
Polyubiquitin chains: polymeric protein signals
-
Pickart, C.M. and Fushman, D. (2004) Polyubiquitin chains: polymeric protein signals. Curr. Opin. Chem. Biol., 8, 610-616.
-
(2004)
Curr. Opin. Chem. Biol.
, vol.8
, pp. 610-616
-
-
Pickart, C.M.1
Fushman, D.2
-
16
-
-
27144529182
-
Ubiquitylation and cell signaling
-
Haglund, K. and Dikic, I. (2005) Ubiquitylation and cell signaling. EMBO J., 24, 3353-3359.
-
(2005)
EMBO J.
, vol.24
, pp. 3353-3359
-
-
Haglund, K.1
Dikic, I.2
-
17
-
-
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. and Sidransky, E. (2001) Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol. Genet. Metab., 73, 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
-
18
-
-
12444296116
-
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol
-
Tayebi, N., Walker, J., Stubblefield, B., Orvisky, E., LaMarca, M.E., Wong, K., Rosenbaum, H., Schiffmann, R., Bembi, B. and Sidransky, E. (2003) Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol. Genet. Metab., 79, 104-109.
-
(2003)
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
-
19
-
-
10744226352
-
Gaucher's disease with Parkinson's disease: clinical and pathological aspects
-
Bembi, B., Zambito Marsala, S., Sidransky, E., Ciana, G., Carrozzi, M., Zorzon, M., Martini, C., Gioulis, M., Pittis, M.G. and Capus, L. (2003) Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology, 61, 99-101.
-
(2003)
Neurology
, vol.61
, pp. 99-101
-
-
Bembi, B.1
Zambito Marsala, S.2
Sidransky, E.3
Ciana, G.4
Carrozzi, M.5
Zorzon, M.6
Martini, C.7
Gioulis, M.8
Pittis, M.G.9
Capus, L.10
-
20
-
-
7444237665
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
Aharon-Peretz, J., Rosenbaum, H. and Gershoni-Baruch, R. (2004) Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med., 351, 1972-1977.
-
(2004)
N. Engl. J. Med.
, vol.351
, pp. 1972-1977
-
-
Aharon-Peretz, J.1
Rosenbaum, H.2
Gershoni-Baruch, R.3
-
21
-
-
10844278246
-
Parkinsonism among Gaucher disease carriers
-
Goker-Alpan, O., Schiffmann, R., LaMarca, M.E., Nussbaum, R.L., McInerney-Leo, A. and Sidransky, E. (2004) Parkinsonism among Gaucher disease carriers. J. Med. Genet., 41, 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
-
22
-
-
15244348524
-
Gaucher disease and parkinsonism
-
Sidransky, E. (2005) Gaucher disease and parkinsonism. Mol. Genet. Metab., 84, 302-304.
-
(2005)
Mol. Genet. Metab.
, vol.84
, pp. 302-304
-
-
Sidransky, E.1
-
23
-
-
13844317890
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
Author reply, 728-731
-
Zimran, A., Neudorfer, O. and Elstein, D. (2005) The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med., 352, 728-731. Author reply, 728-731.
-
(2005)
N. Engl. J. Med.
, vol.352
, pp. 728-731
-
-
Zimran, A.1
Neudorfer, O.2
Elstein, D.3
-
24
-
-
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
-
25
-
-
54049097933
-
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
-
Goker-Alpan, O., Lopez, G., Vithayathil, J., Davis, J., Hallett, M. and Sidransky, E. (2008) The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch. Neurol., 65, 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
-
26
-
-
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
-
29
-
-
11344262265
-
Ubiquitin- proteasome system and Parkinson's diseases
-
Betarbet, R., Sherer, T.B. and Greenamyre, J.T. (2005) Ubiquitin- proteasome system and Parkinson's diseases. Exp. Neurol., 191(Suppl. 1), S17-S27.
-
(2005)
Exp. Neurol.
, vol.191
, Issue.SUPPL. 1
-
-
Betarbet, R.1
Sherer, T.B.2
Greenamyre, J.T.3
-
30
-
-
0035910634
-
Proteasomal function is impaired in substantia nigra in Parkinson's disease
-
McNaught, K.S. and Jenner, P. (2001) Proteasomal function is impaired in substantia nigra in Parkinson's disease. Neurosci. Lett., 297, 191-194.
-
(2001)
Neurosci. Lett.
, vol.297
, pp. 191-194
-
-
McNaught, K.S.1
Jenner, P.2
-
31
-
-
0037240325
-
Rare genetic mutations shed light on the pathogenesis of Parkinson disease
-
Dawson, T.M. and Dawson, V.L. (2003) Rare genetic mutations shed light on the pathogenesis of Parkinson disease. J. Clin. Invest., 111, 145-151.
-
(2003)
J. Clin. Invest.
, vol.111
, pp. 145-151
-
-
Dawson, T.M.1
Dawson, V.L.2
-
32
-
-
0037208645
-
Overview of the genetics of parkinsonism
-
Gasser, T. (2003) Overview of the genetics of parkinsonism. Adv. Neurol., 91, 143-152.
-
(2003)
Adv. Neurol.
, vol.91
, pp. 143-152
-
-
Gasser, T.1
-
33
-
-
63149090431
-
Parkinson's disease: from monogenic forms to genetic susceptibility factors
-
Lesage, S. and Brice, A. (2009) Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum. Mol. Genet., 18, R48-R59.
-
(2009)
Hum. Mol. Genet.
, vol.18
-
-
Lesage, S.1
Brice, A.2
-
34
-
-
0037379324
-
Genetic and environmental factors in the cause of Parkinson's disease
-
Discussion S23-S25
-
Warner, T.T. and Schapira, A.H. (2003) Genetic and environmental factors in the cause of Parkinson's disease. Ann. Neurol., 53(Suppl. 3), S16-S23. Discussion S23-S25.
-
(2003)
Ann. Neurol.
, vol.53
, Issue.SUPPL. 3
-
-
Warner, T.T.1
Schapira, A.H.2
-
35
-
-
0034680913
-
Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity
-
Imai, Y., Soda, M. and Takahashi, R. (2000) Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity. J. Biol. Chem., 275, 35661-35664.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 35661-35664
-
-
Imai, Y.1
Soda, M.2
Takahashi, R.3
-
36
-
-
0033933048
-
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
-
Shimura, H., Hattori, N., Kubo, S., Mizuno, Y., Asakawa, S., Minoshima, S., Shimizu, N., Iwai, K., Chiba, T., Tanaka, K. et al. (2000) Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat. Genet., 25, 302-305.
-
(2000)
Nat. Genet.
, vol.25
, pp. 302-305
-
-
Shimura, H.1
Hattori, N.2
Kubo, S.3
Mizuno, Y.4
Asakawa, S.5
Minoshima, S.6
Shimizu, N.7
Iwai, K.8
Chiba, T.9
Tanaka, K.10
-
37
-
-
0034700158
-
Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein
-
Zhang, Y., Gao, J., Chung, K.K., Huang, H., Dawson, V.L. and Dawson, T.M. (2000) Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Proc. Natl Acad. Sci. USA, 97, 13354-13359.
-
(2000)
CDCrel-1. Proc. Natl Acad. Sci. USA
, vol.97
, pp. 13354-13359
-
-
Zhang, Y.1
Gao, J.2
Chung, K.K.3
Huang, H.4
Dawson, V.L.5
Dawson, T.M.6
-
38
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y. and Shimizu, N. (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature, 392, 605-608.
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
Matsumine, H.4
Yamamura, Y.5
Minoshima, S.6
Yokochi, M.7
Mizuno, Y.8
Shimizu, N.9
-
39
-
-
0342368772
-
Association between early-onset Parkinson's disease and mutations in the parkin gene
-
Lucking, C.B., Durr, A., Bonifati, V., Vaughan, J., De Michele, G., Gasser, T., Harhangi, B.S., Meco, G., Denefle, P., Wood, N.W. et al. (2000) Association between early-onset Parkinson's disease and mutations in the parkin gene. N. Engl. J. Med., 342, 1560-1567.
-
(2000)
N. Engl. J. Med.
, vol.342
, pp. 1560-1567
-
-
Lucking, C.B.1
Durr, A.2
Bonifati, V.3
Vaughan, J.4
De Michele, G.5
Gasser, T.6
Harhangi, B.S.7
Meco, G.8
Denefle, P.9
Wood, N.W.10
-
40
-
-
0035967883
-
An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin
-
Imai, Y., Soda, M., Inoue, H., Hattori, N., Mizuno, Y. and Takahashi, R. (2001) An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin. Cell, 105, 891-902.
-
(2001)
Cell
, vol.105
, pp. 891-902
-
-
Imai, Y.1
Soda, M.2
Inoue, H.3
Hattori, N.4
Mizuno, Y.5
Takahashi, R.6
-
41
-
-
0035854437
-
Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease
-
Shimura, H., Schlossmacher, M.G., Hattori, N., Frosch, M.P., Trockenbacher, A., Schneider, R., Mizuno, Y., Kosik, K.S. and Selkoe, D.J. (2001) Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease. Science, 293, 263-269.
-
(2001)
Science
, vol.293
, pp. 263-269
-
-
Shimura, H.1
Schlossmacher, M.G.2
Hattori, N.3
Frosch, M.P.4
Trockenbacher, A.5
Schneider, R.6
Mizuno, Y.7
Kosik, K.S.8
Selkoe, D.J.9
-
42
-
-
0034776095
-
Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease
-
Chung, K.K., Zhang, Y., Lim, K.L., Tanaka, Y., Huang, H., Gao, J., Ross, C.A., Dawson, V.L. and Dawson, T.M. (2001) Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. Nat. Med., 7, 1144-1150.
-
(2001)
Nat. Med.
, vol.7
, pp. 1144-1150
-
-
Chung, K.K.1
Zhang, Y.2
Lim, K.L.3
Tanaka, Y.4
Huang, H.5
Gao, J.6
Ross, C.A.7
Dawson, V.L.8
Dawson, T.M.9
-
43
-
-
0037422010
-
Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicity
-
Staropoli, J.F., McDermott, C., Martinat, C., Schulman, B., Demireva, E. and Abeliovich, A. (2003) Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicity. Neuron, 37, 735-749.
-
(2003)
Neuron
, vol.37
, pp. 735-749
-
-
Staropoli, J.F.1
McDermott, C.2
Martinat, C.3
Schulman, B.4
Demireva, E.5
Abeliovich, A.6
-
44
-
-
0037738525
-
Parkin binds to alpha/beta tubulin and increases their ubiquitination and degradation
-
Ren, Y., Zhao, J. and Feng, J. (2003) Parkin binds to alpha/beta tubulin and increases their ubiquitination and degradation. J. Neurosci., 23, 3316-3324.
-
(2003)
J. Neurosci.
, vol.23
, pp. 3316-3324
-
-
Ren, Y.1
Zhao, J.2
Feng, J.3
-
45
-
-
10744220754
-
The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration
-
Corti, O., Hampe, C., Koutnikova, H., Darios, F., Jacquier, S., Prigent, A., Robinson, J.C., Pradier, L., Ruberg, M., Mirande, M. et al. (2003) The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration. Hum. Mol. Genet., 12, 1427-1437.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1427-1437
-
-
Corti, O.1
Hampe, C.2
Koutnikova, H.3
Darios, F.4
Jacquier, S.5
Prigent, A.6
Robinson, J.C.7
Pradier, L.8
Ruberg, M.9
Mirande, M.10
-
46
-
-
33745220302
-
Identification of far upstream element-binding protein-1 as an authentic Parkin substrate
-
Ko, H.S., Kim, S.W., Sriram, S.R., Dawson, V.L. and Dawson, T.M. (2006) Identification of far upstream element-binding protein-1 as an authentic Parkin substrate. J. Biol. Chem., 281, 16193-16196.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 16193-16196
-
-
Ko, H.S.1
Kim, S.W.2
Sriram, S.R.3
Dawson, V.L.4
Dawson, T.M.5
-
47
-
-
9644257142
-
Ubiquitin, proteasome and parkin
-
Tanaka, K., Suzuki, T., Hattori, N. and Mizuno, Y. (2004) Ubiquitin, proteasome and parkin. Biochim. Biophys. Acta, 1695, 235-247.
-
(2004)
Biochim. Biophys. Acta
, vol.1695
, pp. 235-247
-
-
Tanaka, K.1
Suzuki, T.2
Hattori, N.3
Mizuno, Y.4
-
48
-
-
24144470504
-
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin
-
Sriram, S.R., Li, X., Ko, H.S., Chung, K.K., Wong, E., Lim, K.L., Dawson, V.L. and Dawson, T.M. (2005) Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. Hum. Mol. Genet., 14, 2571-2586.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2571-2586
-
-
Sriram, S.R.1
Li, X.2
Ko, H.S.3
Chung, K.K.4
Wong, E.5
Lim, K.L.6
Dawson, V.L.7
Dawson, T.M.8
-
49
-
-
0027442325
-
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
-
Horowitz, M., Tzuri, G., Eyal, N., Berebi, A., Kolodny, E.H., Brady, R.O., Barton, N.W., Abrahamov, A. and Zimran, A. (1993) Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am. J. Hum. Genet., 53, 921-930.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 921-930
-
-
Horowitz, M.1
Tzuri, G.2
Eyal, N.3
Berebi, A.4
Kolodny, E.H.5
Brady, R.O.6
Barton, N.W.7
Abrahamov, A.8
Zimran, A.9
-
50
-
-
0024121474
-
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals
-
Tsuji, S., Martin, B.M., Barranger, J.A., Stubblefield, B.K., LaMarca, M.E. and Ginns, E.I. (1988) Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc. Natl Acad. Sci. USA, 85, 2349-2352.
-
(1988)
Proc. Natl Acad. Sci. USA
, vol.85
, pp. 2349-2352
-
-
Tsuji, S.1
Martin, B.M.2
Barranger, J.A.3
Stubblefield, B.K.4
LaMarca, M.E.5
Ginns, E.I.6
-
51
-
-
4744343655
-
Gaucher disease: complexity in a 'simple' disorder
-
Sidransky, E. (2004) Gaucher disease: complexity in a 'simple' disorder. Mol. Genet. Metab., 83, 6-15.
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 6-15
-
-
Sidransky, E.1
-
52
-
-
0026925580
-
Neuronal differentiation triggered by blocking cell proliferation
-
LoPresti, P., Poluha, W., Poluha, D.K., Drinkwater, E. and Ross, A.H. (1992) Neuronal differentiation triggered by blocking cell proliferation. Cell. Growth Differ., 3, 627-635.
-
(1992)
Cell. Growth Differ.
, vol.3
, pp. 627-635
-
-
LoPresti, P.1
Poluha, W.2
Poluha, D.K.3
Drinkwater, E.4
Ross, A.H.5
-
53
-
-
0346059412
-
Glucocerebrosidase mutations in subjects with parkinsonism
-
Lwin, A., Orvisky, E., Goker-Alpan, O., LaMarca, M.E. and Sidransky, E. (2004) Glucocerebrosidase mutations in subjects with parkinsonism. Mol. Genet. Metab., 81, 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
-
54
-
-
66249109910
-
Mutations for Gaucher disease confer high susceptibility to Parkinson disease
-
Mitsui, J., Mizuta, I., Toyoda, A., Ashida, R., Takahashi, Y., Goto, J., Fukuda, Y., Date, H., Iwata, A., Yamamoto, M. et al. (2009) Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch. Neurol., 66, 571-576.
-
(2009)
Arch. Neurol.
, vol.66
, pp. 571-576
-
-
Mitsui, J.1
Mizuta, I.2
Toyoda, A.3
Ashida, R.4
Takahashi, Y.5
Goto, J.6
Fukuda, Y.7
Date, H.8
Iwata, A.9
Yamamoto, M.10
-
55
-
-
0023131172
-
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
-
Tsuji, S., Choudary, P.V., Martin, B.M., Stubblefield, B.K., Mayor, J.A., Barranger, J.A. and Ginns, E.I. (1987) A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N. Engl. J. Med., 316, 570-575.
-
(1987)
N. Engl. J. Med.
, vol.316
, pp. 570-575
-
-
Tsuji, S.1
Choudary, P.V.2
Martin, B.M.3
Stubblefield, B.K.4
Mayor, J.A.5
Barranger, J.A.6
Ginns, E.I.7
-
56
-
-
0027427341
-
Gaucher disease mutations in non-Jewish patients
-
Beutler, E. and Gelbart, T. (1993) Gaucher disease mutations in non-Jewish patients. Br. J. Haematol., 85, 401-405.
-
(1993)
Br. J. Haematol.
, vol.85
, pp. 401-405
-
-
Beutler, E.1
Gelbart, T.2
-
57
-
-
0015216932
-
The mechanism by which cycloheximide and related glutarimide antibiotics inhibit peptide synthesis on reticulocyte ribosomes
-
Obrig, T.G., Culp, W.J., McKeehan, W.L. and Hardesty, B. (1971) The mechanism by which cycloheximide and related glutarimide antibiotics inhibit peptide synthesis on reticulocyte ribosomes. J. Biol. Chem., 246, 174-181.
-
(1971)
J. Biol. Chem.
, vol.246
, pp. 174-181
-
-
Obrig, T.G.1
Culp, W.J.2
McKeehan, W.L.3
Hardesty, B.4
-
58
-
-
0035292759
-
Themes and variations on ubiquitylation
-
Weissman, A.M. (2001) Themes and variations on ubiquitylation. Nat. Rev. Mol. Cell. Biol., 2, 169-178.
-
(2001)
Nat. Rev. Mol. Cell. Biol.
, vol.2
, pp. 169-178
-
-
Weissman, A.M.1
-
59
-
-
20444450523
-
Alpha-synuclein and parkin contribute to the assembly of ubiquitin lysine 63-linked multiubiquitin chains
-
Doss-Pepe, E.W., Chen, L. and Madura, K. (2005) Alpha-synuclein and parkin contribute to the assembly of ubiquitin lysine 63-linked multiubiquitin chains. J. Biol. Chem., 280, 16619-16624.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 16619-16624
-
-
Doss-Pepe, E.W.1
Chen, L.2
Madura, K.3
-
60
-
-
20044386298
-
Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation
-
Lim, K.L., Chew, K.C., Tan, J.M., Wang, C., Chung, K.K., Zhang, Y., Tanaka, Y., Smith, W., Engelender, S., Ross, C.A. et al. (2005) Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation. J. Neurosci., 25, 2002-2009.
-
(2005)
J. Neurosci.
, vol.25
, pp. 2002-2009
-
-
Lim, K.L.1
Chew, K.C.2
Tan, J.M.3
Wang, C.4
Chung, K.K.5
Zhang, Y.6
Tanaka, Y.7
Smith, W.8
Engelender, S.9
Ross, C.A.10
-
61
-
-
33344456519
-
Parkin-mediated lysine 63-linked polyubiquitination: a link to protein inclusions formation in Parkinson's and other conformational diseases? Neurobiol
-
Lim, K.L., Dawson, V.L. and Dawson, T.M. (2006) Parkin-mediated lysine 63-linked polyubiquitination: a link to protein inclusions formation in Parkinson's and other conformational diseases? Neurobiol. Aging, 27, 524-529.
-
(2006)
Aging
, vol.27
, pp. 524-529
-
-
Lim, K.L.1
Dawson, V.L.2
Dawson, T.M.3
-
62
-
-
33745280651
-
Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity
-
Hampe, C., Ardila-Osorio, H., Fournier, M., Brice, A. and Corti, O. (2006) Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. Hum. Mol. Genet., 15, 2059-2075.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2059-2075
-
-
Hampe, C.1
Ardila-Osorio, H.2
Fournier, M.3
Brice, A.4
Corti, O.5
-
63
-
-
33645635706
-
Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro
-
Matsuda, N., Kitami, T., Suzuki, T., Mizuno, Y., Hattori, N. and Tanaka, K. (2006) Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro. J. Biol. Chem., 281, 3204-3209.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 3204-3209
-
-
Matsuda, N.1
Kitami, T.2
Suzuki, T.3
Mizuno, Y.4
Hattori, N.5
Tanaka, K.6
-
64
-
-
0037033074
-
Parkin accumulation in aggresomes due to proteasome impairment
-
Junn, E., Lee, S.S., Suhr, U.T. and Mouradian, M.M. (2002) Parkin accumulation in aggresomes due to proteasome impairment. J. Biol. Chem., 277, 47870-47877.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 47870-47877
-
-
Junn, E.1
Lee, S.S.2
Suhr, U.T.3
Mouradian, M.M.4
-
65
-
-
0036303981
-
Hassles with taking out the garbage: aggravating aggresomes
-
Garcia-Mata, R., Gao, Y.S. and Sztul, E. (2002) Hassles with taking out the garbage: aggravating aggresomes. Traffic, 3, 388-396.
-
(2002)
Traffic
, vol.3
, pp. 388-396
-
-
Garcia-Mata, R.1
Gao, Y.S.2
Sztul, E.3
-
66
-
-
0032576605
-
Aggresomes: a cellular response to misfolded proteins
-
Johnston, J.A., Ward, C.L. and Kopito, R.R. (1998) Aggresomes: a cellular response to misfolded proteins. J. Cell. Biol., 143, 1883-1898.
-
(1998)
J. Cell. Biol.
, vol.143
, pp. 1883-1898
-
-
Johnston, J.A.1
Ward, C.L.2
Kopito, R.R.3
-
67
-
-
0034578389
-
Aggresomes, inclusion bodies and protein aggregation
-
Kopito, R.R. (2000) Aggresomes, inclusion bodies and protein aggregation. Trends Cell. Biol., 10, 524-530.
-
(2000)
Trends Cell. Biol.
, vol.10
, pp. 524-530
-
-
Kopito, R.R.1
-
68
-
-
3142540683
-
Lewy-body formation is an aggresome-related process: a hypothesis
-
Olanow, C.W., Perl, D.P., DeMartino, G.N. and McNaught, K.S. (2004) Lewy-body formation is an aggresome-related process: a hypothesis. Lancet Neurol., 3, 496-503.
-
(2004)
Lancet Neurol
, vol.3
, pp. 496-503
-
-
Olanow, C.W.1
Perl, D.P.2
DeMartino, G.N.3
McNaught, K.S.4
-
69
-
-
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. 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
-
70
-
-
34247172998
-
Expanding insights on the involvement of endoplasmic reticulum stress in Parkinson's disease
-
Wang, H.Q. and Takahashi, R. (2007) Expanding insights on the involvement of endoplasmic reticulum stress in Parkinson's disease. Antioxid. Redox. Signal., 9, 553-561.
-
(2007)
Antioxid. Redox. Signal.
, vol.9
, pp. 553-561
-
-
Wang, H.Q.1
Takahashi, R.2
-
71
-
-
0036345454
-
CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity
-
Imai, Y., Soda, M., Hatakeyama, S., Akagi, T., Hashikawa, T., Nakayama, K.I. and Takahashi, R. (2002) CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity. Mol. Cell, 10, 55-67.
-
(2002)
Mol. Cell
, vol.10
, pp. 55-67
-
-
Imai, Y.1
Soda, M.2
Hatakeyama, S.3
Akagi, T.4
Hashikawa, T.5
Nakayama, K.I.6
Takahashi, R.7
-
72
-
-
0347064343
-
A product of the human gene adjacent to parkin is a component of Lewy bodies and suppresses Pael receptor-induced cell death
-
Imai, Y., Soda, M., Murakami, T., Shoji, M., Abe, K. and Takahashi, R. (2003) A product of the human gene adjacent to parkin is a component of Lewy bodies and suppresses Pael receptor-induced cell death. J. Biol. Chem., 278, 51901-51910.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 51901-51910
-
-
Imai, Y.1
Soda, M.2
Murakami, T.3
Shoji, M.4
Abe, K.5
Takahashi, R.6
-
73
-
-
12144290241
-
SEPT5_v2 is a parkin-binding protein
-
Choi, P., Snyder, H., Petrucelli, L., Theisler, C., Chong, M., Zhang, Y., Lim, K., Chung, K.K., Kehoe, K., D'Adamio, L. et al. (2003) SEPT5_v2 is a parkin-binding protein. Brain Res. Mol. Brain Res., 117, 179-189.
-
(2003)
Brain Res. Mol Brain Res.
, vol.117
, pp. 179-189
-
-
Choi, P.1
Snyder, H.2
Petrucelli, L.3
Theisler, C.4
Chong, M.5
Zhang, Y.6
Lim, K.7
Chung, K.K.8
Kehoe, K.9
D'Adamio, L.10
-
74
-
-
24144497601
-
Accumulation of the authentic parkin substrate aminoacyl-tRNA synthetase cofactor, p38/JTV-1, leads to catecholaminergic cell death
-
Ko, H.S., von Coelln, R., Sriram, S.R., Kim, S.W., Chung, K.K., Pletnikova, O., Troncoso, J., Johnson, B., Saffary, R., Goh, E.L. et al. (2005) Accumulation of the authentic parkin substrate aminoacyl-tRNA synthetase cofactor, p38/JTV-1, leads to catecholaminergic cell death. J. Neurosci., 25, 7968-7978.
-
(2010)
J. Neurosci.
, vol.25
, pp. 7968-7978
-
-
Ko, H.S.1
von Coelln, R.2
Sriram, S.R.3
Kim, S.W.4
Chung, K.K.5
Pletnikova, O.6
Troncoso, J.7
Johnson, B.8
Saffary, R.9
Goh, E.L.10
-
75
-
-
0142059791
-
Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein
-
Dong, Z., Ferger, B., Paterna, J.C., Vogel, D., Furler, S., Osinde, M., Feldon, J. and Bueler, H. (2003) Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1. Proc. Natl Acad. Sci. USA, 100, 12438-12443.
-
(2003)
CDCrel-1. Proc. Natl Acad. Sci. USA
, vol.100
, pp. 12438-12443
-
-
Dong, Z.1
Ferger, B.2
Paterna, J.C.3
Vogel, D.4
Furler, S.5
Osinde, M.6
Feldon, J.7
Bueler, H.8
-
76
-
-
0037468831
-
Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila
-
Yang, Y., Nishimura, I., Imai, Y., Takahashi, R. and Lu, B. (2003) Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila. Neuron, 37, 911-924.
-
(2003)
Neuron
, vol.37
, pp. 911-924
-
-
Yang, Y.1
Nishimura, I.2
Imai, Y.3
Takahashi, R.4
Lu, B.5
-
77
-
-
50149098383
-
Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice
-
Sun, Y., Jia, L., Williams, M.T., Zamzow, M., Ran, H., Quinn, B., Aronow, B.J., Vorhees, C.V., Witte, D.P. and Grabowski, G.A. (2008) Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice. BMC Neurosci., 9, 76.
-
(2008)
BMC Neurosci.
, vol.9
, pp. 76
-
-
Sun, Y.1
Jia, L.2
Williams, M.T.3
Zamzow, M.4
Ran, H.5
Quinn, B.6
Aronow, B.J.7
Vorhees, C.V.8
Witte, D.P.9
Grabowski, G.A.10
-
78
-
-
22244446505
-
The mammalian unfolded protein response
-
Schroder, M. and Kaufman, R.J. (2005) The mammalian unfolded protein response. Annu. Rev. Biochem., 74, 739-789.
-
(2005)
Annu. Rev. Biochem.
, vol.74
, pp. 739-789
-
-
Schroder, M.1
Kaufman, R.J.2
-
79
-
-
10444226462
-
ER stress and the unfolded protein response
-
Schroder, M. and Kaufman, R.J. (2005) ER stress and the unfolded protein response. Mutat. Res., 569, 29-63.
-
(2005)
Mutat. Res.
, vol.569
, pp. 29-63
-
-
Schroder, M.1
Kaufman, R.J.2
-
80
-
-
43549116100
-
Parkin mediates the degradation-independent ubiquitination of Hsp70
-
Moore, D.J., West, A.B., Dikeman, D.A., Dawson, V.L. and Dawson, T.M. (2008) Parkin mediates the degradation-independent ubiquitination of Hsp70. J. Neurochem., 105, 1806-1819.
-
(2008)
J. Neurochem.
, vol.105
, pp. 1806-1819
-
-
Moore, D.J.1
West, A.B.2
Dikeman, D.A.3
Dawson, V.L.4
Dawson, T.M.5
-
81
-
-
0038159253
-
Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function
-
Tsai, Y.C., Fishman, P.S., Thakor, N.V. and Oyler, G.A. (2003) Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function. J. Biol. Chem., 278, 22044-22055.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 22044-22055
-
-
Tsai, Y.C.1
Fishman, P.S.2
Thakor, N.V.3
Oyler, G.A.4
-
82
-
-
33845874433
-
Brain CHIP: removing the culprits in neurodegenerative disease
-
Dickey, C.A., Patterson, C., Dickson, D. and Petrucelli, L. (2007) Brain CHIP: removing the culprits in neurodegenerative disease. Trends Mol. Med., 13, 32-38.
-
(2007)
Trends Mol. Med.
, vol.13
, pp. 32-38
-
-
Dickey, C.A.1
Patterson, C.2
Dickson, D.3
Petrucelli, L.4
-
83
-
-
0025326719
-
Ubiquitin carboxyl-terminal hydrolase (PGP 9
-
Lowe, J., McDermott, H., Landon, M., Mayer, R.J. and Wilkinson, K.D. (1990) Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases. J. Pathol., 161, 153-160.
-
(1990)
5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases. J. Pathol.
, vol.161
, pp. 153-160
-
-
Lowe, J.1
McDermott, H.2
Landon, M.3
Mayer, R.J.4
Wilkinson, K.D.5
-
84
-
-
0032502276
-
Substrate specificity of deubiquitinating enzymes: ubiquitin C-terminal hydrolases
-
Larsen, C.N., Krantz, B.A. and Wilkinson, K.D. (1998) Substrate specificity of deubiquitinating enzymes: ubiquitin C-terminal hydrolases. Biochemistry, 37, 3358-3368.
-
(1998)
Biochemistry
, vol.37
, pp. 3358-3368
-
-
Larsen, C.N.1
Krantz, B.A.2
Wilkinson, K.D.3
-
85
-
-
3242695252
-
Genes, proteins, and neurotoxins involved in Parkinson's disease
-
von Bohlen und Halbach, O., Schober, A. and Krieglstein, K. (2004) Genes, proteins, and neurotoxins involved in Parkinson's disease. Prog. Neurobiol., 73, 151-177.
-
(2004)
Prog. Neurobiol.
, vol.73
, pp. 151-177
-
-
von Bohlen und Halbach, O.1
Schober, A.2
Krieglstein, K.3
-
86
-
-
0032190090
-
The ubiquitin pathway in Parkinson's disease
-
Leroy, E., Boyer, R., Auburger, G., Leube, B., Ulm, G., Mezey, E., Harta, G., Brownstein, M.J., Jonnalagada, S., Chernova, T. et al. (1998) The ubiquitin pathway in Parkinson's disease. Nature, 395, 451-452.
-
(1998)
Nature
, vol.395
, pp. 451-452
-
-
Leroy, E.1
Boyer, R.2
Auburger, G.3
Leube, B.4
Ulm, G.5
Mezey, E.6
Harta, G.7
Brownstein, M.J.8
Jonnalagada, S.9
Chernova, T.10
-
87
-
-
0033544368
-
Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease
-
Maraganore, D.M., Farrer, M.J., Hardy, J.A., Lincoln, S.J., McDonnell, S.K. and Rocca, W.A. (1999) Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. Neurology, 53, 1858-1860.
-
(1999)
Neurology
, vol.53
, pp. 1858-1860
-
-
Maraganore, D.M.1
Farrer, M.J.2
Hardy, J.A.3
Lincoln, S.J.4
McDonnell, S.K.5
Rocca, W.A.6
-
88
-
-
5444235520
-
Genetic causes of Parkinson's disease: UCHL-1
-
Healy, D.G., Abou-Sleiman, P.M. and Wood, N.W. (2004) Genetic causes of Parkinson's disease: UCHL-1. Cell. Tissue Res., 318, 189-194.
-
(2004)
Cell. Tissue Res.
, vol.318
, pp. 189-194
-
-
Healy, D.G.1
Abou-Sleiman, P.M.2
Wood, N.W.3
|