-
1
-
-
2642707314
-
Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease
-
Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, et al. (1985) Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A 82: 7101-7105.
-
(1985)
Proc Natl Acad Sci U S A
, vol.82
, pp. 7101-7105
-
-
Ginns, E.I.1
Choudary, P.V.2
Tsuji, S.3
Martin, B.4
Stubblefield, B.5
-
2
-
-
42949118684
-
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
Hruska KS, LaMarca ME, Scott CR, Sidransky E, (2008) Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 29: 567-583.
-
(2008)
Hum Mutat
, vol.29
, pp. 567-583
-
-
Hruska, K.S.1
LaMarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
3
-
-
33646846303
-
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations
-
Wan L, Hsu CM, Tsai CH, Lee CC, Hwu WL, et al. (2006) Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol Dis 36: 422-425.
-
(2006)
Blood Cells Mol Dis
, vol.36
, pp. 422-425
-
-
Wan, L.1
Hsu, C.M.2
Tsai, C.H.3
Lee, C.C.4
Hwu, W.L.5
-
4
-
-
0023131172
-
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
-
Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, et al. (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
-
5
-
-
0024455533
-
Gaucher disease: molecular heterogeneity and phenotype-genotype correlations
-
Theophilus B, Latham T, Grabowski GA, Smith FI, (1989) Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet 45: 212-225.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 212-225
-
-
Theophilus, B.1
Latham, T.2
Grabowski, G.A.3
Smith, F.I.4
-
6
-
-
0024998724
-
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene
-
Dahl N, Lagerström M, Erikson A, Pettersson U, (1990) Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet 47: 275-278.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 275-278
-
-
Dahl, N.1
Lagerström, M.2
Erikson, A.3
Pettersson, U.4
-
7
-
-
0032806113
-
Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation
-
Ida H, Rennert OM, Iwasawa K, Kobayashi M, Eto Y, (1999) Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Hum Genet 105: 120-126.
-
(1999)
Hum Genet
, vol.105
, pp. 120-126
-
-
Ida, H.1
Rennert, O.M.2
Iwasawa, K.3
Kobayashi, M.4
Eto, Y.5
-
8
-
-
0033911997
-
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
-
Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, et al. (2000) Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 66: 1777-1786.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1777-1786
-
-
Koprivica, V.1
Stone, D.L.2
Park, J.K.3
Callahan, M.4
Frisch, A.5
-
9
-
-
34047193434
-
Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles
-
Choy FY, Zhang W, Shi HP, Zay A, Campbell T, (2007) Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol Dis 38: 287-293.
-
(2007)
Blood Cells Mol Dis
, vol.38
, pp. 287-293
-
-
Choy, F.Y.1
Zhang, W.2
Shi, H.P.3
Zay, A.4
Campbell, T.5
-
10
-
-
79959803398
-
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
-
Aerts JM, Kallemeijn WW, Wegdam W, Joao Ferraz M, van Breemen MJ, et al. (2011) Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis 34: 605-619.
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 605-619
-
-
Aerts, J.M.1
Kallemeijn, W.W.2
Wegdam, W.3
Joao Ferraz, M.4
van Breemen, M.J.5
-
11
-
-
0030772366
-
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease
-
Schiffmann R, Heyes MP, Aerts JM, Dambrosia JM, Patterson MC, et al. (1997) Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. Ann Neurol 42: 613-621.
-
(1997)
Ann Neurol
, vol.42
, pp. 613-621
-
-
Schiffmann, R.1
Heyes, M.P.2
Aerts, J.M.3
Dambrosia, J.M.4
Patterson, M.C.5
-
13
-
-
0026778029
-
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene
-
Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, et al. (1992) Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357: 407-410.
-
(1992)
Nature
, vol.357
, pp. 407-410
-
-
Tybulewicz, V.L.1
Tremblay, M.L.2
LaMarca, M.E.3
Willemsen, R.4
Stubblefield, B.K.5
-
14
-
-
0032478309
-
Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure
-
Liu Y, Suzuki K, Reed JD, Grinberg A, Westphal H, et al. (1998) Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Proc Natl Acad Sci U S A 95: 2503-2508.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 2503-2508
-
-
Liu, Y.1
Suzuki, K.2
Reed, J.D.3
Grinberg, A.4
Westphal, H.5
-
15
-
-
33748793666
-
Effective cell and gene therapy in a murine model of Gaucher disease
-
Enquist IB, Nilsson E, Ooka A, Månsson JE, Olsson K, et al. (2006) Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci U S A 103: 13819-13824.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 13819-13824
-
-
Enquist, I.B.1
Nilsson, E.2
Ooka, A.3
Månsson, J.E.4
Olsson, K.5
-
16
-
-
26444609722
-
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
-
Ron I, 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
-
17
-
-
0033694785
-
Drosophila models of human neurodegenerative disease
-
Chan HY, Bonini NM, (2000) Drosophila models of human neurodegenerative disease. Cell Death Differ 7: 1075-1080.
-
(2000)
Cell Death Differ
, vol.7
, pp. 1075-1080
-
-
Chan, H.Y.1
Bonini, N.M.2
-
18
-
-
0037194896
-
Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila
-
Takeyama K, Ito S, Yamamoto A, Tanimoto H, Furutani T, et al. (2002) Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron 35: 855-864.
-
(2002)
Neuron
, vol.35
, pp. 855-864
-
-
Takeyama, K.1
Ito, S.2
Yamamoto, A.3
Tanimoto, H.4
Furutani, T.5
-
19
-
-
26844442613
-
Drosophila models of neurodegenerative disease
-
Sang TK, Jackson GR, (2005) Drosophila models of neurodegenerative disease. NeuroRx 2: 438-446.
-
(2005)
NeuroRx
, vol.2
, pp. 438-446
-
-
Sang, T.K.1
Jackson, G.R.2
-
20
-
-
66149135641
-
Drosophila models of neurodegenerative diseases
-
Lu B, Vogel H, (2009) Drosophila models of neurodegenerative diseases. Annu Rev Pathol 4: 315-342.
-
(2009)
Annu Rev Pathol
, vol.4
, pp. 315-342
-
-
Lu, B.1
Vogel, H.2
-
21
-
-
77954321829
-
Drosophila melanogaster in the study of human neurodegeneration
-
Hirth F, (2010) Drosophila melanogaster in the study of human neurodegeneration. CNS Neurol Disord Drug Targets 9: 504-523.
-
(2010)
CNS Neurol Disord Drug Targets
, vol.9
, pp. 504-523
-
-
Hirth, F.1
-
22
-
-
0034597833
-
Identification of genes that modify ataxin-1-induced neurodegeneration
-
Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, et al. (2000) Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 408: 101-106.
-
(2000)
Nature
, vol.408
, pp. 101-106
-
-
Fernandez-Funez, P.1
Nino-Rosales, M.L.2
de Gouyon, B.3
She, W.C.4
Luchak, J.M.5
-
23
-
-
0034704752
-
A Drosophila model of Parkinson's disease
-
Feany MB, Bender WW, (2000) A Drosophila model of Parkinson's disease. Nature 404: 394-398.
-
(2000)
Nature
, vol.404
, pp. 394-398
-
-
Feany, M.B.1
Bender, W.W.2
-
24
-
-
80053252011
-
Unfolded proteins and Endoplasmic Reticulum stress in neurodegenerative disorders
-
Doyle KM, Kennedy D, Gorman AM, Gupta S, Healy SJ, et al. (2011) Unfolded proteins and Endoplasmic Reticulum stress in neurodegenerative disorders. J Cell Mol Med 15: 2025-2039.
-
(2011)
J Cell Mol Med
, vol.15
, pp. 2025-2039
-
-
Doyle, K.M.1
Kennedy, D.2
Gorman, A.M.3
Gupta, S.4
Healy, S.J.5
-
25
-
-
69949119548
-
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
-
Maegawa GH, Tropak MB, Buttner JD, Rigat BA, Fuller M, et al. (2009) Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem 284: 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
-
26
-
-
0346668334
-
Highly conserved Drosophila ananassae timeless gene functions as a clock component in Drosophila melanogaster
-
Nishinokubi I, Shimoda M, Kako K, Sakai T, Fukamizu A, et al. (2003) Highly conserved Drosophila ananassae timeless gene functions as a clock component in Drosophila melanogaster. Gene 307: 183-190.
-
(2003)
Gene
, vol.307
, pp. 183-190
-
-
Nishinokubi, I.1
Shimoda, M.2
Kako, K.3
Sakai, T.4
Fukamizu, A.5
-
27
-
-
33744463669
-
Morphology of foretarsal ventral surfaces of Japanese Papilio butterflies and relations between these morphology, phylogeny and hostplant preferring hierarchy
-
Inoue TA, (2006) Morphology of foretarsal ventral surfaces of Japanese Papilio butterflies and relations between these morphology, phylogeny and hostplant preferring hierarchy. Zoolog Sci 23: 169-189.
-
(2006)
Zoolog Sci
, vol.23
, pp. 169-189
-
-
Inoue, T.A.1
-
28
-
-
0027160708
-
Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
-
Brand AH, Perrimon N, (1993) Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development 118: 401-415.
-
(1993)
Development
, vol.118
, pp. 401-415
-
-
Brand, A.H.1
Perrimon, N.2
-
29
-
-
0027515798
-
Expression of Drosophila glass protein and evidence for negative regulation of its activity in non-neuronal cells by another DNA-binding protein
-
Ellis MC, O'Neill EM, Rubin GM, (1993) Expression of Drosophila glass protein and evidence for negative regulation of its activity in non-neuronal cells by another DNA-binding protein. Development 119: 855-865.
-
(1993)
Development
, vol.119
, pp. 855-865
-
-
Ellis, M.C.1
O'Neill, E.M.2
Rubin, G.M.3
-
30
-
-
78650805237
-
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant
-
Bendikov-Bar I, Ron I, Filocamo M, Horowitz M, (2011) Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant. Blood Cells Mol Dis 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
-
31
-
-
33846219134
-
Unfolded protein response in a Drosophila model for retinal degeneration
-
Ryoo HD, Domingos PM, Kang MJ, Steller H, (2007) Unfolded protein response in a Drosophila model for retinal degeneration. EMBO J 26: 242-252.
-
(2007)
EMBO J
, vol.26
, pp. 242-252
-
-
Ryoo, H.D.1
Domingos, P.M.2
Kang, M.J.3
Steller, H.4
-
32
-
-
33846829603
-
Ire1 regulated XBP1 mRNA splicing is essential for the unfolded protein response (UPR) in Drosophila melanogaster
-
Plongthongkum N, Kullawong N, Panyim S, Tirasophon W, (2007) Ire1 regulated XBP1 mRNA splicing is essential for the unfolded protein response (UPR) in Drosophila melanogaster. Biochem Biophys Res Commun 354: 789-794.
-
(2007)
Biochem Biophys Res Commun
, vol.354
, pp. 789-794
-
-
Plongthongkum, N.1
Kullawong, N.2
Panyim, S.3
Tirasophon, W.4
-
33
-
-
0013927537
-
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease
-
Brady RO, Kanfer JN, Bradley RM, Shapiro D, (1966) Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest 45: 1112-1115.
-
(1966)
J Clin Invest
, vol.45
, pp. 1112-1115
-
-
Brady, R.O.1
Kanfer, J.N.2
Bradley, R.M.3
Shapiro, D.4
-
34
-
-
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
-
Wei H, Kim SJ, Zhang Z, Tsai PC, Wisniewski KE, et al. (2008) ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Hum Mol Genet 17: 469-477.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 469-477
-
-
Wei, H.1
Kim, S.J.2
Zhang, Z.3
Tsai, P.C.4
Wisniewski, K.E.5
-
35
-
-
0037108754
-
Overexpression of a pattern-recognition receptor, peptidoglycan-recognition protein-LE, activates imd/relish-mediated antibacterial defense and the prophenoloxidase cascade in Drosophila larvae
-
Takehana A, Katsuyama T, Yano T, Oshima Y, Takada H, et al. (2002) Overexpression of a pattern-recognition receptor, peptidoglycan-recognition protein-LE, activates imd/relish-mediated antibacterial defense and the prophenoloxidase cascade in Drosophila larvae. Proc Natl Acad Sci U S A 15: 13705-13710.
-
(2002)
Proc Natl Acad Sci U S A
, vol.15
, pp. 13705-13710
-
-
Takehana, A.1
Katsuyama, T.2
Yano, T.3
Oshima, Y.4
Takada, H.5
|