-
1
-
-
0029848854
-
Glucocerebrosidase (Gaucher disease)
-
DOI 10.1002/(SICI)1098-1004(1996)8:3<207::AID-HUMU2>3.0.CO;2-6
-
Glucocerebrosidase (Gaucher disease). Beutler E, Gelbart T, Hum Mutat 1996 8 207 213 (Pubitemid 26328003)
-
(1996)
Human Mutation
, vol.8
, Issue.3
, pp. 207-213
-
-
Beutler, E.1
Gelbart, T.2
-
2
-
-
17644422131
-
Gaucher disease: Pathological mechanisms and modern management
-
DOI 10.1111/j.1365-2141.2004.05351.x
-
Gaucher disease: pathological mechanisms and modern management. Jmoudiak M, Futerman AH, Br J Haematol 2005 129 178 188 (Pubitemid 40562438)
-
(2005)
British Journal of Haematology
, vol.129
, Issue.2
, pp. 178-188
-
-
Jmoudiak, M.1
Futerman, A.H.2
-
3
-
-
42949118684
-
Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
DOI 10.1002/humu.20676
-
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hruska KS, LaMarca ME, Scott CR, Sidransky E, Hum Mutat 2008 29 567 583 (Pubitemid 351614580)
-
(2008)
Human Mutation
, vol.29
, Issue.5
, pp. 567-583
-
-
Hruska, K.S.1
LaMarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
4
-
-
0024121474
-
Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals
-
DOI 10.1073/pnas.85.7.2349
-
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI, Proc Natl Acad Sci USA 1988 85 2349 2352 (Pubitemid 24315889)
-
(1988)
Proceedings of the National Academy of Sciences of the United States of America
, vol.85
, Issue.7
, 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
-
5
-
-
0023131172
-
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
-
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI, N Engl J Med 1987 316 570 575 (Pubitemid 17045699)
-
(1987)
New England Journal of Medicine
, vol.316
, Issue.10
, pp. 570-575
-
-
Tsuji, S.1
Choudary, P.V.2
Martin, B.M.3
-
6
-
-
0025831078
-
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
-
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Beutler E, Gelbart T, Kuhl W, Sorge J, West C, Proc Natl Acad Sci USA 1991 88 10544 10547 (Pubitemid 21915872)
-
(1991)
Proceedings of the National Academy of Sciences of the United States of America
, vol.88
, Issue.23
, pp. 10544-10547
-
-
Beutler, E.1
Gelbart, T.2
Kuhl, W.3
Sorge, J.4
West, C.5
-
9
-
-
82255173966
-
The unfolded protein response: From stress pathway to homeostatic regulation
-
The unfolded protein response: from stress pathway to homeostatic regulation. Walter P, Ron D, Science 2011 334 1081 1086
-
(2011)
Science
, vol.334
, pp. 1081-1086
-
-
Walter, P.1
Ron, D.2
-
10
-
-
33845958175
-
The unfolded protein response
-
DOI 10.1385/MB:34:2:279, PII MB342279
-
The unfolded protein response. Schroder M, Mol Biotechnol 2006 34 279 290 (Pubitemid 46030401)
-
(2006)
Molecular Biotechnology
, vol.34
, Issue.2
, pp. 279-290
-
-
Schroder, M.1
-
11
-
-
77957311822
-
The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in beta-cells
-
The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in beta-cells. Kaufman RJ, Back SH, Song B, Han J, Hassler J, Diabetes Obes Metab 2010 12 Suppl 2 99 107
-
(2010)
Diabetes Obes Metab
, vol.12
, Issue.2 SUPPL.
, pp. 99-107
-
-
Kaufman, R.J.1
Back, S.H.2
Song, B.3
Han, J.4
Hassler, J.5
-
12
-
-
79959979647
-
Induction of ER stress in response to oxygen-glucose deprivation of cortical cultures involves the activation of the PERK and IRE-1 pathways and of caspase-12
-
Induction of ER stress in response to oxygen-glucose deprivation of cortical cultures involves the activation of the PERK and IRE-1 pathways and of caspase-12. Badiola N, Penas C, Minano-Molina A, Barneda-Zahonero B, Fado R, Sanchez-Opazo G, Comella JX, Sabria J, Zhu C, Blomgren K, et al. Cell Death Dis 2011 2 149
-
(2011)
Cell Death Dis
, vol.2
, pp. 5149
-
-
Badiola, N.1
Penas, C.2
Minano-Molina, A.3
Barneda-Zahonero, B.4
Fado, R.5
Sanchez-Opazo, G.6
Comella, J.X.7
Sabria, J.8
Zhu, C.9
Blomgren, K.10
-
13
-
-
33947532213
-
La réponse UPR: Son rôle physiologique et physiopathologique
-
[Unfolded protein response: its role in physiology and physiopathology]. Foufelle F, Ferre P, Med Sci (Paris) 2007 23 291 296 (Pubitemid 46472670)
-
(2007)
Medecine/Sciences
, vol.23
, Issue.3
, pp. 291-296
-
-
Foufelle, F.1
Ferre, P.2
-
14
-
-
80855139444
-
Protein quality control, retention, and degradation at the endoplasmic reticulum
-
Protein quality control, retention, and degradation at the endoplasmic reticulum. Benyair R, Ron E, Lederkremer GZ, Int Rev Cell Mol Biol 2011 292 197 280
-
(2011)
Int Rev Cell Mol Biol
, vol.292
, pp. 197-280
-
-
Benyair, R.1
Ron, E.2
Lederkremer, G.Z.3
-
15
-
-
28944447430
-
PIDD Mediates NF-κB activation in response to DNA damage
-
DOI 10.1016/j.cell.2005.09.036, PII S0092867405010421
-
PIDD mediates NF-kappaB activation in response to DNA damage. Janssens S, Tinel A, Lippens S, Tschopp J, Cell 2005 123 1079 1092 (Pubitemid 41785422)
-
(2005)
Cell
, vol.123
, Issue.6
, pp. 1079-1092
-
-
Janssens, S.1
Tinel, A.2
Lippens, S.3
Tschopp, J.4
-
16
-
-
84863740827
-
The impact of the unfolded protein response on human disease
-
The impact of the unfolded protein response on human disease. Wang S, Kaufman RJ, J Cell Biol 2012 197 857 867
-
(2012)
J Cell Biol
, vol.197
, pp. 857-867
-
-
Wang, S.1
Kaufman, R.J.2
-
17
-
-
38849146956
-
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones
-
DOI 10.1093/hmg/ddm324
-
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Wei H, Kim SJ, Zhang Z, Tsai PC, Wisniewski KE, Mukherjee AB, Hum Mol Genet 2008 17 469 477 (Pubitemid 351201763)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.4
, pp. 469-477
-
-
Wei, H.1
Kim, S.-J.2
Zhang, Z.3
Tsai, P.-C.4
Wisniewski, K.R.5
Mukherjee, A.B.6
-
18
-
-
80053098572
-
Protective effect of catechin in type i Gaucher disease cells by reducing endoplasmic reticulum stress
-
Protective effect of catechin in type I Gaucher disease cells by reducing endoplasmic reticulum stress. Lee YJ, Kim SJ, Heo TH, Biochem Biophys Res Commun 2011 413 254 258
-
(2011)
Biochem Biophys Res Commun
, vol.413
, pp. 254-258
-
-
Lee, Y.J.1
Kim, S.J.2
Heo, T.H.3
-
19
-
-
64549159732
-
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease
-
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease. Farfel-Becker T, Vitner E, Dekel H, Leshem N, Enquist IB, Karlsson S, Futerman AH, Hum Mol Genet 2009 18 1482 1488
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1482-1488
-
-
Farfel-Becker, T.1
Vitner, E.2
Dekel, H.3
Leshem, N.4
Enquist, I.B.5
Karlsson, S.6
Futerman, A.H.7
-
20
-
-
77956537090
-
Interaction between parkin and mutant glucocerebrosidase variants: A possible link between Parkinson disease and Gaucher disease
-
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease. Ron I, Rapaport D, Horowitz M, Hum Mol Genet 2010 19 3771 3781
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3771-3781
-
-
Ron, I.1
Rapaport, D.2
Horowitz, M.3
-
21
-
-
26444609722
-
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
-
DOI 10.1093/hmg/ddi240
-
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Ron I, Horowitz M, Hum Mol Genet 2005 14 2387 2398 (Pubitemid 41418000)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.16
, pp. 2387-2398
-
-
Ron, I.1
Horowitz, M.2
-
22
-
-
21544481475
-
Use of fluorescent substrates for characterization of Gaucher disease mutations
-
DOI 10.1016/j.bcmd.2005.03.006, PII S1079979605000367, Including Workshop on Exosomes: Part II
-
Use of fluorescent substrates for characterization of Gaucher disease mutations. Ron I, Dagan A, Gatt S, Pasmanik-Chor M, Horowitz M, Blood Cells Mol Dis 2005 35 57 65 (Pubitemid 40922775)
-
(2005)
Blood Cells, Molecules, and Diseases
, vol.35
, Issue.1
, pp. 57-65
-
-
Ron, I.1
Dagan, A.2
Gatt, S.3
Pasmanik-Chor, M.4
Horowitz, M.5
-
23
-
-
84866278220
-
Gaucher disease paradigm: From ERAD to co-morbidity
-
Gaucher disease paradigm: from ERAD to co-morbidity. Bendikov-Bar I, Horowitz M, Hum Mutat 2012 33 1398 1407
-
(2012)
Hum Mutat
, vol.33
, pp. 1398-1407
-
-
Bendikov-Bar, I.1
Horowitz, M.2
-
24
-
-
50249175120
-
Chemical and biological approaches synergize to ameliorate protein-folding diseases
-
Chemical and biological approaches synergize to ameliorate protein-folding diseases. Mu TW, Ong DS, Wang YJ, Balch WE, Yates JR 3rd, Segatori L, Kelly JW, Cell 2008 134 769 781
-
(2008)
Cell
, vol.134
, pp. 769-781
-
-
Mu, T.W.1
Ong, D.S.2
Wang, Y.J.3
Balch, W.E.4
Yates III, J.R.5
Segatori, L.6
Kelly, J.W.7
-
25
-
-
42449136183
-
Untangling the unfolded protein response
-
Untangling the unfolded protein response. Davenport EL, Morgan GJ, Davies FE, Cell Cycle 2008 7 865 869 (Pubitemid 351573778)
-
(2008)
Cell Cycle
, vol.7
, Issue.7
, pp. 865-869
-
-
Davenport, E.L.1
Morgan, G.J.2
Davies, F.E.3
-
26
-
-
0028153579
-
Glucosylceramide and glucosylsphingosine metabolism in cultured fibroblasts deficient in acid β-glucosidase activity
-
Glucosylceramide and glucosylsphingosine metabolism in cultured fibroblasts deficient in acid beta-glucosidase activity. Sasagasako N, Kobayashi T, Yamaguchi Y, Shinnoh N, Goto I, J Biochem 1994 115 113 119 (Pubitemid 24030946)
-
(1994)
Journal of Biochemistry
, vol.115
, Issue.1
, pp. 113-119
-
-
Sasagasako, N.1
Kobayashi, T.2
Yamaguchi, Y.3
Shinnoh, N.4
Goto, I.5
-
27
-
-
37649016171
-
How IRE1 reacts to ER stress
-
How IRE1 reacts to ER stress. Ron D, Hubbard SR, Cell 2008 132 24 26
-
(2008)
Cell
, vol.132
, pp. 24-26
-
-
Ron, D.1
Hubbard, S.R.2
-
28
-
-
84863586566
-
A quantitative method for detection of spliced X-box binding protein-1 (XBP1) mRNA as a measure of endoplasmic reticulum (ER) stress
-
A quantitative method for detection of spliced X-box binding protein-1 (XBP1) mRNA as a measure of endoplasmic reticulum (ER) stress. van Schadewijk A, Van't Wout EF, Stolk J, Hiemstra PS, Cell Stress Chaperones 2012 17 275 279
-
(2012)
Cell Stress Chaperones
, vol.17
, pp. 275-279
-
-
Van Schadewijk, A.1
Van'T Wout, E.F.2
Stolk, J.3
Hiemstra, P.S.4
-
29
-
-
78650805237
-
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant
-
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant. Bendikov-Bar I, Ron I, Filocamo M, Horowitz M, Blood Cells Mol Dis 2011 46 4 10
-
(2011)
Blood Cells Mol Dis
, vol.46
, pp. 4-10
-
-
Bendikov-Bar, I.1
Ron, I.2
Filocamo, M.3
Horowitz, M.4
-
30
-
-
40849100438
-
Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients
-
Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients. Ron I, Horowitz M, Mol Genet Metab 2008 93 426 436
-
(2008)
Mol Genet Metab
, vol.93
, pp. 426-436
-
-
Ron, I.1
Horowitz, M.2
-
31
-
-
0034848419
-
Gaucher disease and parkinsonism: A phenotypic and genotypic characterization
-
DOI 10.1006/mgme.2001.3201
-
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ, Sidransky E, Mol Genet Metab 2001 73 313 321 (Pubitemid 32846370)
-
(2001)
Molecular Genetics and Metabolism
, vol.73
, Issue.4
, 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
-
32
-
-
12444296116
-
Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
-
DOI 10.1016/S1096-7192(03)00071-4
-
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E, Mol Genet Metab 2003 79 104 109 (Pubitemid 36693928)
-
(2003)
Molecular Genetics and Metabolism
, vol.79
, Issue.2
, 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
-
33
-
-
0038460778
-
Gaucher disease associated with Parkinsonism: Four further case reports
-
Gaucher disease associated with parkinsonism: four further case reports. Varkonyi J, Rosenbaum H, Baumann N, MacKenzie JJ, Simon Z, Aharon-Peretz J, Walker JM, Tayebi N, Sidransky E, Am J Med Genet A 2003 116A 348 351 (Pubitemid 37063588)
-
(2003)
American Journal of Medical Genetics
, vol.116 A
, Issue.4
, pp. 348-351
-
-
Varkonyi, J.1
Rosenbaum, H.2
Baumann, N.3
MacKenzie, J.J.4
Simon, Z.5
Aharon-Peretz, J.6
Walker, J.M.7
Tayebi, N.8
Sidransky, E.9
-
34
-
-
10744226352
-
Gaucher's disease with Parkinson's disease: Clinical and pathological aspects
-
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 MG, Capus L, Neurology 2003 61 99 101 (Pubitemid 36818755)
-
(2003)
Neurology
, vol.61
, Issue.1
, pp. 99-101
-
-
Bembi, B.1
Marsala, S.Z.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
-
35
-
-
7444237665
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
DOI 10.1056/NEJMoa033277
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R, N Engl J Med 2004 351 1972 1977 (Pubitemid 39447138)
-
(2004)
New England Journal of Medicine
, vol.351
, Issue.19
, pp. 1972-1977
-
-
Aharon-Peretz, J.1
Rosenbaum, H.2
Gershoni-Baruch, R.3
-
36
-
-
10844278246
-
Parkinsonism among Gaucher disease carriers
-
DOI 10.1136/jmg.2004.024455
-
Parkinsonism among Gaucher disease carriers. Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E, J Med Genet 2004 41 937 940 (Pubitemid 40007255)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.12
, 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
-
37
-
-
0346059412
-
Glucocerebrosidase mutations in subjects with parkinsonism
-
DOI 10.1016/j.ymgme.2003.11.004
-
Glucocerebrosidase mutations in subjects with parkinsonism. Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E, Mol Genet Metab 2004 81 70 73 (Pubitemid 38064435)
-
(2004)
Molecular Genetics and Metabolism
, vol.81
, Issue.1
, pp. 70-73
-
-
Lwin, A.1
Orvisky, E.2
Goker-Alpan, O.3
LaMarca, M.E.4
Sidransky, E.5
-
38
-
-
14044262300
-
Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
-
DOI 10.1002/mds.20320
-
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Clark LN, Nicolai A, Afridi S, Harris J, Mejia-Santana H, Strug L, Cote LJ, Louis ED, Andrews H, Waters C, et al. Mov Disord 2005 20 100 103 (Pubitemid 40277515)
-
(2005)
Movement Disorders
, vol.20
, Issue.1
, pp. 100-103
-
-
Clark, L.N.1
Nicolai, A.2
Afridi, S.3
Harris, J.4
Mejia-Santana, H.5
Strug, L.6
Cote, L.J.7
Louis, E.D.8
Andrews, H.9
Waters, C.10
Ford, B.11
Frucht, S.12
Fahn, S.13
Mayeux, R.14
Ottman, R.15
Marder, K.16
-
39
-
-
13844317890
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews [3] (multiple letters)
-
DOI 10.1056/NEJM200502173520719
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. Eblan MJ, Walker JM, Sidransky E, N Engl J Med 2005 352 728 731 author reply 728-731 (Pubitemid 40239226)
-
(2005)
New England Journal of Medicine
, vol.352
, Issue.7
, pp. 728-731
-
-
Eblan, M.J.1
Walker, J.M.2
Sidransky, E.3
Zimran, A.4
Neudorfer, O.5
Elstein, D.6
Schlossmacher, M.G.7
Cullen, V.8
Muthing, J.9
Gershoni-Baruch, R.10
Aharon-Peretz, J.11
Rosenbaum, H.12
-
40
-
-
20944434070
-
Analysis of the glucocerebrosidase gene in Parkinson's disease
-
DOI 10.1002/mds.20319
-
Analysis of the glucocerebrosidase gene in Parkinson's disease. Sato C, Morgan A, Lang AE, Salehi-Rad S, Kawarai T, Meng Y, Ray PN, Farrer LA, St George-Hyslop P, Rogaeva E, Mov Disord 2005 20 367 370 (Pubitemid 40613301)
-
(2005)
Movement Disorders
, vol.20
, Issue.3
, pp. 367-370
-
-
Sato, C.1
Morgan, A.2
Lang, A.E.3
Salehi-Rad, S.4
Kawarai, T.5
Meng, Y.6
Ray, P.N.7
Farrer, L.A.8
St George-Hyslop, P.9
Rogaeva, E.10
-
41
-
-
13844317890
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews [3] (multiple letters)
-
DOI 10.1056/NEJM200502173520719
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. Schlossmacher MG, Cullen V, Muthing J, N Engl J Med 2005 352 728 731 author reply 728-731 (Pubitemid 40239226)
-
(2005)
New England Journal of Medicine
, vol.352
, Issue.7
, pp. 728-731
-
-
Eblan, M.J.1
Walker, J.M.2
Sidransky, E.3
Zimran, A.4
Neudorfer, O.5
Elstein, D.6
Schlossmacher, M.G.7
Cullen, V.8
Muthing, J.9
Gershoni-Baruch, R.10
Aharon-Peretz, J.11
Rosenbaum, H.12
-
42
-
-
15244348524
-
Gaucher disease and parkinsonism
-
DOI 10.1016/j.ymgme.2004.11.007
-
Gaucher disease and parkinsonism. Sidransky E, Mol Genet Metab 2005 84 302 304 (Pubitemid 40386876)
-
(2005)
Molecular Genetics and Metabolism
, vol.84
, Issue.4
, pp. 302-304
-
-
Sidransky, E.1
-
43
-
-
13844317890
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews [3] (multiple letters)
-
DOI 10.1056/NEJM200502173520719
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. Zimran A, Neudorfer O, Elstein D, N Engl J Med 2005 352 728 731 author reply 728-731 (Pubitemid 40239226)
-
(2005)
New England Journal of Medicine
, vol.352
, Issue.7
, pp. 728-731
-
-
Eblan, M.J.1
Walker, J.M.2
Sidransky, E.3
Zimran, A.4
Neudorfer, O.5
Elstein, D.6
Schlossmacher, M.G.7
Cullen, V.8
Muthing, J.9
Gershoni-Baruch, R.10
Aharon-Peretz, J.11
Rosenbaum, H.12
-
44
-
-
33745920808
-
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism
-
DOI 10.1016/j.neulet.2006.05.032, PII S0304394006005222
-
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism. Eblan MJ, Scholz S, Stubblefield B, Gutti U, Goker-Alpan O, Hruska KS, Singleton AB, Sidransky E, Neurosci Lett 2006 404 163 165 (Pubitemid 44041786)
-
(2006)
Neuroscience Letters
, vol.404
, Issue.1-2
, pp. 163-165
-
-
Eblan, M.J.1
Scholz, S.2
Stubblefield, B.3
Gutti, U.4
Goker-Alpan, O.5
Hruska, K.S.6
Singleton, A.B.7
Sidransky, E.8
-
45
-
-
33748304674
-
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
-
DOI 10.1212/01.wnl.0000230215.41296.18, PII 0000611420060912000047
-
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E, Neurology 2006 67 908 910 (Pubitemid 44394221)
-
(2006)
Neurology
, vol.67
, Issue.5
, pp. 908-910
-
-
Goker-Alpan, O.1
Giasson, B.I.2
Eblan, M.J.3
Nguyen, J.4
Hurtig, H.I.5
Lee, V.M.-Y.6
Trojanowski, J.Q.7
Sidransky, E.8
-
46
-
-
33751187618
-
Parkinsonism in type I Gaucher's disease
-
DOI 10.2169/internalmedicine.45.1790
-
Parkinsonism in type I Gaucher's disease. Itokawa K, Tamura N, Kawai N, Shimazu K, Ishii K, Intern Med 2006 45 1165 1167 (Pubitemid 44773969)
-
(2006)
Internal Medicine
, vol.45
, Issue.20
, pp. 1165-1167
-
-
Itokawa, K.1
Tamura, N.2
Kawai, N.3
Shimazu, K.4
Ishii, K.5
-
47
-
-
33646931576
-
Parkinsonism in type 1 Gaucher's disease
-
DOI 10.1136/jnnp.2005.076240
-
Parkinsonism in type 1 Gaucher's disease. Spitz M, Rozenberg R, Silveira PA, Barbosa ER, J Neurol Neurosurg Psychiatry 2006 77 709 710 (Pubitemid 43844614)
-
(2006)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.77
, Issue.5
, pp. 709-710
-
-
Spitz, M.1
Rozenberg, R.2
Silveira, P.A.A.3
Barbosa, E.R.4
-
48
-
-
34548726339
-
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
-
DOI 10.1212/01.wnl.0000276989.17578.02, PII 0000611420070918000013
-
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, et al. Neurology 2007 69 1270 1277 (Pubitemid 47429028)
-
(2007)
Neurology
, vol.69
, Issue.12
, pp. 1270-1277
-
-
Clark, L.N.1
Ross, B.M.2
Wang, Y.3
Mejia-Santana, H.4
Harris, J.5
Louis, E.D.6
Cote, L.J.7
Andrews, H.8
Fahn, S.9
Waters, C.10
Ford, B.11
Frucht, S.12
Ottman, R.13
Marder, K.14
-
49
-
-
34447273298
-
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients [2]
-
DOI 10.1001/archneur.64.7.1056
-
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Tan EK, Tong J, Fook-Chong S, Yih Y, Wong MC, Pavanni R, Zhao Y, Arch Neurol 2007 64 1056 1058 (Pubitemid 47048012)
-
(2007)
Archives of Neurology
, vol.64
, Issue.7
, pp. 1056-1058
-
-
Tan, E.-K.1
Tong, J.2
Fook-Chong, S.3
Yih, Y.4
Wong, M.-C.5
Pavanni, R.6
Zhao, Y.7
-
50
-
-
54049097933
-
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
-
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E, Arch Neurol 2008 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
-
51
-
-
66249109910
-
Mutations for Gaucher disease confer high susceptibility to Parkinson disease
-
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. Arch Neurol 2009 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
-
52
-
-
70350557477
-
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset
-
author reply 1425-1426
-
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Sidransky E, Samaddar T, Tayebi N, Neurology 2009 73 1424 1425 author reply 1425-1426
-
(2009)
Neurology
, vol.73
, pp. 1424-1425
-
-
Sidransky, E.1
Samaddar, T.2
Tayebi, N.3
-
53
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, et al. N Engl J Med 2009 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
-
54
-
-
78751604119
-
Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa
-
Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa. Lesage S, Condroyer C, Hecham N, Anheim M, Belarbi S, Lohman E, Viallet F, Pollak P, Abada M, Durr A, et al. Neurology 2011 76 301 303
-
(2011)
Neurology
, vol.76
, pp. 301-303
-
-
Lesage, S.1
Condroyer, C.2
Hecham, N.3
Anheim, M.4
Belarbi, S.5
Lohman, E.6
Viallet, F.7
Pollak, P.8
Abada, M.9
Durr, A.10
-
55
-
-
79956324138
-
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
-
Large-scale screening of the Gaucher's disease-related 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 JC, Honore A, et al. Hum Mol Genet 2011 20 202 210
-
(2011)
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
-
56
-
-
0034704752
-
A Drosophila model of Parkinson's disease
-
DOI 10.1038/35006074
-
A Drosophila model of Parkinson's disease. Feany MB, Bender WW, Nature 2000 404 394 398 (Pubitemid 30164341)
-
(2000)
Nature
, vol.404
, Issue.6776
, pp. 394-398
-
-
Feany, M.B.1
Bender, W.W.2
-
57
-
-
84856411368
-
Pharmacological chaperone therapy for Fabry disease
-
Pharmacological chaperone therapy for Fabry disease. Ishii S, Proc Jpn Acad Ser B Phys Biol Sci 2012 88 18 30
-
(2012)
Proc Jpn Acad ser B Phys Biol Sci
, vol.88
, pp. 18-30
-
-
Ishii, S.1
-
58
-
-
33646403198
-
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants
-
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Yam GH, Bosshard N, Zuber C, Steinmann B, Roth J, Am J Physiol Cell Physiol 2006 290 1076 C1082
-
(2006)
Am J Physiol Cell Physiol
, vol.290
-
-
Yam, G.H.1
Bosshard, N.2
Zuber, C.3
Steinmann, B.4
Roth, J.5
-
59
-
-
79953316609
-
Lack of activation of the unfolded protein response in mouse and cellular models of Niemann-Pick type C disease
-
Lack of activation of the unfolded protein response in mouse and cellular models of Niemann-Pick type C disease. Klein A, Mosqueira M, Martinez G, Robledo F, Gonzalez M, Caballero B, Cancino GI, Alvarez AR, Hetz C, Zanlungo S, Neurodegener Dis 2011 8 124 128
-
(2011)
Neurodegener Dis
, vol.8
, pp. 124-128
-
-
Klein, A.1
Mosqueira, M.2
Martinez, G.3
Robledo, F.4
Gonzalez, M.5
Caballero, B.6
Cancino, G.I.7
Alvarez, A.R.8
Hetz, C.9
Zanlungo, S.10
-
60
-
-
79960009804
-
Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies
-
Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D, Cell 2011 146 37 52
-
(2011)
Cell
, vol.146
, pp. 37-52
-
-
Mazzulli, J.R.1
Xu, Y.H.2
Sun, Y.3
Knight, A.L.4
McLean, P.J.5
Caldwell, G.A.6
Sidransky, E.7
Grabowski, G.A.8
Krainc, D.9
-
61
-
-
66249129677
-
Association of glucocerebrosidase mutations with dementia with lewy bodies
-
Association of glucocerebrosidase mutations with dementia with lewy bodies. Clark LN, Kartsaklis LA, Wolf Gilbert R, Dorado B, Ross BM, Kisselev S, Verbitsky M, Mejia-Santana H, Cote LJ, Andrews H, et al. Arch Neurol 2009 66 578 583
-
(2009)
Arch Neurol
, vol.66
, pp. 578-583
-
-
Clark, L.N.1
Kartsaklis, L.A.2
Wolf Gilbert, R.3
Dorado, B.4
Ross, B.M.5
Kisselev, S.6
Verbitsky, M.7
Mejia-Santana, H.8
Cote, L.J.9
Andrews, H.10
-
62
-
-
79956199921
-
Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alpha-synuclein processing
-
Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alpha-synuclein processing. Cullen V, Sardi SP, Ng J, Xu YH, Sun Y, Tomlinson JJ, Kolodziej P, Kahn I, Saftig P, Woulfe J, et al. Ann Neurol 2011 69 940 953
-
(2011)
Ann Neurol
, vol.69
, pp. 940-953
-
-
Cullen, V.1
Sardi, S.P.2
Ng, J.3
Xu, Y.H.4
Sun, Y.5
Tomlinson, J.J.6
Kolodziej, P.7
Kahn, I.8
Saftig, P.9
Woulfe, J.10
-
63
-
-
79952303794
-
PARIS (ZNF746) repression of PGC-1alpha contributes to neurodegeneration in Parkinson's disease
-
PARIS (ZNF746) repression of PGC-1alpha contributes to neurodegeneration in Parkinson's disease. Shin JH, Ko HS, Kang H, Lee Y, Lee YI, Pletinkova O, Troconso JC, Dawson VL, Dawson TM, Cell 2011 144 689 702
-
(2011)
Cell
, vol.144
, pp. 689-702
-
-
Shin, J.H.1
Ko, H.S.2
Kang, H.3
Lee, Y.4
Lee, Y.I.5
Pletinkova, O.6
Troconso, J.C.7
Dawson, V.L.8
Dawson, T.M.9
-
64
-
-
84863611344
-
Parkin promotes degradation of the mitochondrial pro-apoptotic ARTS protein
-
Parkin promotes degradation of the mitochondrial pro-apoptotic ARTS protein. Kemeny S, Dery D, Loboda Y, Rovner M, Lev T, Zuri D, Finberg JP, Larisch S, PLoS One 2012 7 38837
-
(2012)
PLoS One
, vol.7
, pp. 538837
-
-
Kemeny, S.1
Dery, D.2
Loboda, Y.3
Rovner, M.4
Lev, T.5
Zuri, D.6
Finberg, J.P.7
Larisch, S.8
-
65
-
-
84864349176
-
PGC-1alpha: A master gene that is hard to master
-
PGC-1alpha: a master gene that is hard to master. Lindholm D, Eriksson O, Makela J, Belluardo N, Korhonen L, Cell Mol Life Sci 2012 69 2465 2468
-
(2012)
Cell Mol Life Sci
, vol.69
, pp. 2465-2468
-
-
Lindholm, D.1
Eriksson, O.2
Makela, J.3
Belluardo, N.4
Korhonen, L.5
-
66
-
-
0033671655
-
A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif
-
A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif. Larisch S, Yi Y, Lotan R, Kerner H, Eimerl S, Tony Parks W, Gottfried Y, Birkey Reffey S, de Caestecker MP, Danielpour D, et al. Nat Cell Biol 2000 2 915 921
-
(2000)
Nat Cell Biol
, vol.2
, pp. 915-921
-
-
Larisch, S.1
Yi, Y.2
Lotan, R.3
Kerner, H.4
Eimerl, S.5
Tony Parks, W.6
Gottfried, Y.7
Birkey Reffey, S.8
De Caestecker, M.P.9
Danielpour, D.10
-
67
-
-
84872789246
-
Decreased parkin solubility is associated with impairment of autophagy in the nigrostriatum of sporadic Parkinson's disease
-
Decreased parkin solubility is associated with impairment of autophagy in the nigrostriatum of sporadic Parkinson's disease. Lonskaya I, Hebron ML, Algarzae NK, Desforges N, Moussa CE, Neuroscience 2012 232C 90
-
(2012)
Neuroscience
, vol.232
, pp. 90
-
-
Lonskaya, I.1
Hebron, M.L.2
Algarzae, N.K.3
Desforges, N.4
Moussa, C.E.5
-
68
-
-
79961083395
-
CNS expression of glucocerebrosidase corrects {alpha}-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
-
CNS expression of glucocerebrosidase corrects {alpha}-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Sardi SP, Clarke J, Kinnecom C, Tamsett TJ, Li L, Stanek LM, Passini MA, Grabowski GA, Schlossmacher MG, Sidman RL, et al. Proc Natl Acad Sci USA 2011 108 12101 12106
-
(2011)
Proc Natl Acad Sci USA
, 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
-
69
-
-
79952619654
-
Accumulation and distribution of alpha-synuclein and ubiquitin in the CNS of Gaucher disease mouse models
-
Accumulation and distribution of alpha-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Xu YH, Sun Y, Ran H, Quinn B, Witte D, Grabowski GA, Mol Genet Metab 2011 102 436 447
-
(2011)
Mol Genet Metab
, vol.102
, pp. 436-447
-
-
Xu, Y.H.1
Sun, Y.2
Ran, H.3
Quinn, B.4
Witte, D.5
Grabowski, G.A.6
-
70
-
-
84860216725
-
Mutant GBA1 expression and synucleinopathy risk: First insights from cellular and mouse models
-
Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models. Sardi SP, Singh P, Cheng SH, Shihabuddin LS, Schlossmacher MG, Neurodegener Dis 2012 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
-
71
-
-
84874487118
-
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies
-
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Sardi SP, Clarke J, Viel C, Chan M, Tamsett TJ, Treleaven CM, Bu J, Sweet L, Passini MA, Dodge JC, et al. Proc Natl Acad Sci USA 2013 110 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
-
72
-
-
84859609686
-
Huntington disease and the huntingtin protein
-
Huntington disease and the huntingtin protein. Zheng Z, Diamond MI, Prog Mol Biol Transl Sci 2012 107 189 214
-
(2012)
Prog Mol Biol Transl Sci
, vol.107
, pp. 189-214
-
-
Zheng, Z.1
Diamond, M.I.2
-
73
-
-
79960842310
-
Neuropathology underlying clinical variability in patients with synucleinopathies
-
Neuropathology underlying clinical variability in patients with synucleinopathies. Halliday GM, Holton JL, Revesz T, Dickson DW, Acta Neuropathol 2011 122 187 204
-
(2011)
Acta Neuropathol
, vol.122
, pp. 187-204
-
-
Halliday, G.M.1
Holton, J.L.2
Revesz, T.3
Dickson, D.W.4
-
74
-
-
80053912909
-
Alzheimer's disease: Beta-amyloid plaque formation in human brain
-
Alzheimer's disease: beta-amyloid plaque formation in human brain. Seeman P, Seeman N, Synapse 2011 65 1289 1297
-
(2011)
Synapse
, vol.65
, pp. 1289-1297
-
-
Seeman, P.1
Seeman, N.2
|