-
2
-
-
80051646721
-
Introduction: Overview and historical perspective
-
Futerman AH Zimran A editors Taylor & Francis Group; Boca Raton
-
Brady RO. Introduction: overview and historical perspective. In: Futerman AH, Zimran A, editors. Gaucher disease. Taylor & Francis Group; Boca Raton: 2007. p. 1-12
-
(2007)
Gaucher Disease
, pp. 1-12
-
-
Brady, R.O.1
-
4
-
-
50549198437
-
Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease
-
Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 1965;18:221-5
-
(1965)
Biochem Biophys Res Commun
, vol.18
, pp. 221-225
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
5
-
-
0001973683
-
Short communications: A deficiency of Glucocerebrosidase in Gaucher's disease
-
Patrick AD. Short communications: a deficiency of Glucocerebrosidase in Gaucher's disease. Biochem J 1965;97:17C-8C
-
(1965)
Biochem J
, vol.97
, pp. 17C-8C
-
-
Patrick, A.D.1
-
7
-
-
0022345601
-
Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA
-
Sorge J, West C, Westwood B, Beutler E. Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. Proc Natl Acad Sci USA 1985;82:7289-93
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 7289-7293
-
-
Sorge, J.1
West, C.2
Westwood, B.3
Beutler, E.4
-
8
-
-
0024572637
-
The human glucocerebrosidase gene and pseudogene: Structure and evolution
-
Horowitz M, Wilder S, Horowitz Z, et al. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 1989;4:87-96
-
(1989)
Genomics
, vol.4
, pp. 87-96
-
-
Horowitz, M.1
Wilder, S.2
Horowitz, Z.3
-
9
-
-
42949118684
-
Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
Hruska KS, LaMarca ME, Scott CR et al. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008;29:567-83
-
(2008)
Hum Mutat
, vol.29
, pp. 567-583
-
-
Hruska, K.S.1
Lamarca, M.E.2
-
10
-
-
0042354624
-
X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease
-
Dvir H, Harel M, McCarthy AA, et al. X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep 2003;4:704-9
-
(2003)
EMBO Rep
, vol.4
, pp. 704-709
-
-
Dvir, H.1
Harel, M.2
McCarthy, A.A.3
-
11
-
-
21244456941
-
X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease
-
Premkumar L, Sawkar AR Boldin-Adamsky S, et al. X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease. J Biol Chem 2005;280:23815-19
-
(2005)
J Biol Chem
, vol.280
, pp. 23815-23819
-
-
Premkumar, L.1
Sawkar Boldin-Adamsky, A.R.S.2
-
12
-
-
0017764868
-
Surface marker and other characteristics of Gaucher's cells
-
Burns GF, Cawley JC, Flemans RJ, et al. Surface marker and other characteristics of Gaucher's cells. J Clin Pathol 1977;30:981-8
-
(1977)
J Clin Pathol
, vol.30
, pp. 981-988
-
-
Burns, G.F.1
Cawley, J.C.2
Flemans, R.J.3
-
13
-
-
4344593367
-
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
-
Boven LA, van Meurs M, Boot RG, et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 2004;122:359-69
-
(2004)
Am J Clin Pathol
, vol.122
, pp. 359-369
-
-
Boven, L.A.1
Van Meurs, M.2
Boot, R.G.3
-
14
-
-
0000216808
-
Gaucher disease
-
Sciver CR, Beaudet AL, Sly WS, Valle D, editors McGraw-Hill; New York
-
Beutler E, Grabowski GA. Gaucher disease. In: Sciver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. 8th edition. McGraw-Hill; New York: 2001. p. 3635
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases. 8th Edition
, pp. 3635
-
-
Beutler, E.1
Grabowski, G.A.2
-
15
-
-
79961046765
-
Epidemiology of lysosomal storage diseases: An overview
-
Mehta A, Beck M, Sunder-Plassmann G, editors Oxford Pharma Genesis; Oxford
-
Fuller M, Meikle PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford Pharma Genesis; Oxford: 2006
-
(2006)
Fabry Disease: Perspectives from 5 Years of FOS
-
-
Fuller, M.1
Meikle, P.J.2
Hopwood, J.J.3
-
16
-
-
0037460729
-
Cystic fibrosis
-
Ratjen F, Doring G. Cystic fibrosis. Lancet 2003;361:681-9
-
(2003)
Lancet
, vol.361
, pp. 681-689
-
-
Ratjen, F.1
Doring, G.2
-
17
-
-
33846225133
-
Huntington's disease
-
Walker FO. Huntington's disease. Lancet 2007;369:218-28
-
(2007)
Lancet
, vol.369
, pp. 218-228
-
-
Walker, F.O.1
-
18
-
-
84863746895
-
Imiglucerase in the treatment of Gaucher disease: A history and perspective
-
Deegan PB, Cox TM. Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther 2012;6:81-106
-
(2012)
Drug des Devel Ther
, vol.6
, pp. 81-106
-
-
Deegan, P.B.1
Cox, T.M.2
-
20
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009;361:1651-61
-
(2009)
N Engl J Med
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
-
21
-
-
84892888218
-
Neuronopathic gaucher disease
-
Futerman AH Zimran A editors Taylor & Francis Group; Boca Raton
-
Schiffmann R, Vellodi A. Neuronopathic gaucher disease. In: Futerman AH, Zimran A, editors. Gaucher disease. Taylor & Francis Group; Boca Raton: 2007. p. 175-96
-
(2007)
Gaucher Disease
, pp. 175-196
-
-
Schiffmann, R.1
Vellodi, A.2
-
23
-
-
79959945443
-
Gaucher disease: Clinical profile and therapeutic developments
-
Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biologics 2010;4:299-313
-
(2010)
Biologics
, vol.4
, pp. 299-313
-
-
Cox, T.M.1
-
24
-
-
84856020224
-
Gaucher disease
-
Pagon RA, Adam MP, Ardinger HH, et al. editors. University of Washington: Seattle
-
Pastores GM, Hughes DA. Gaucher disease. In: Gene Reviews [Internet] Pagon RA, Adam MP, Ardinger HH, et al. editors. University of Washington: Seattle: 1993
-
(1993)
Gene Reviews [Internet]
-
-
Pastores, G.M.1
Hughes, D.A.2
-
25
-
-
0015805171
-
Isolation and characterization of glucocerebrosidase from human placental tissue
-
Pentchev PG, Brady RO, Hibbert SR, et al. Isolation and characterization of glucocerebrosidase from human placental tissue. J Biol Chem 1973;248:5256-61
-
(1973)
J Biol Chem
, vol.248
, pp. 5256-5261
-
-
Pentchev, P.G.1
Brady, R.O.2
Hibbert, S.R.3
-
26
-
-
0029029221
-
Replacement therapy with imiglucerase for type 1 Gaucher's disease
-
Zimran A, Elstein D, Levy-Lahad E, et al. Replacement therapy with imiglucerase for type 1 Gaucher's disease. Lancet 1995;345:1479-80
-
(1995)
Lancet
, vol.345
, pp. 1479-1480
-
-
Zimran, A.1
Elstein, D.2
Levy-Lahad, E.3
-
27
-
-
84874302849
-
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study
-
Gonzalez DE, Turkia HB, Lukina EA, et al. Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: results from a randomized, double-blind, multinational, Phase 3 study. Am J Hematol 2013;88:166-71
-
(2013)
Am J Hematol
, vol.88
, pp. 166-171
-
-
Gonzalez, D.E.1
Turkia, H.B.2
Lukina, E.A.3
-
28
-
-
84874303983
-
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase
-
Zimran A, Pastores GM, Tylki-Szymanska A, et al. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol 2013;88:172-8
-
(2013)
Am J Hematol
, vol.88
, pp. 172-178
-
-
Zimran, A.1
Pastores, G.M.2
Tylki-Szymanska, A.3
-
29
-
-
84874328846
-
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease
-
Ben Turkia H, Gonzalez DE, Barton NW, et al. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am J Hematol 2013;88:179-84
-
(2013)
Am J Hematol
, vol.88
, pp. 179-184
-
-
Ben Turkia, H.1
Gonzalez, D.E.2
Barton, N.W.3
-
30
-
-
70849126444
-
Characterization of gene-activated human acid-beta-glucosidase: Crystal structure, glycan composition, and internalization into macrophages
-
Brumshtein B, Salinas P, Peterson B, et al. Characterization of gene-activated human acid-beta-glucosidase: crystal structure, glycan composition, and internalization into macrophages. Glycobiology 2010;20:24-32
-
(2010)
Glycobiology
, vol.20
, pp. 24-32
-
-
Brumshtein, B.1
Salinas, P.2
Peterson, B.3
-
31
-
-
34248504877
-
A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease
-
Zimran A, Loveday K, Fratazzi C, et al. A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. Blood Cells Mol Dis 2007;39:115-18
-
(2007)
Blood Cells Mol Dis
, vol.39
, pp. 115-118
-
-
Zimran, A.1
Loveday, K.2
Fratazzi, C.3
-
32
-
-
84899630021
-
Taliglucerase alfa: An enzyme replacement therapy using plant cell expression technology
-
Grabowski GA, Golembo M, Shaaltiel Y. Taliglucerase alfa: an enzyme replacement therapy using plant cell expression technology. Mol Genet Metab 2014;112:1-8
-
(2014)
Mol Genet Metab
, vol.112
, pp. 1-8
-
-
Grabowski, G.A.1
Golembo, M.2
Shaaltiel, Y.3
-
33
-
-
73049102077
-
Force majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease
-
Hollak CEM, Dahl vom S, Aerts JMFG, et al. Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis 2010;44:41-7
-
(2010)
Blood Cells Mol Dis
, vol.44
, pp. 41-47
-
-
Hollak, C.E.M.1
Dahl Vom, S.2
Aerts, J.M.F.G.3
-
34
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000;355:1481-5
-
(2000)
Lancet
, vol.355
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
-
35
-
-
84923080398
-
Substrate reduction therapy
-
Futerman AH Zimran A editors Taylor & Francis Group; Boca Raton
-
Platt FM, Cox TM. Substrate reduction therapy. In: Futerman AH, Zimran A, editors. Gaucher disease. Taylor & Francis Group; Boca Raton: 2007. p. 355-76
-
(2007)
Gaucher Disease
, pp. 355-376
-
-
Platt, F.M.1
Cox, T.M.2
-
36
-
-
80051624253
-
How i treat Gaucher disease
-
Zimran A. How I treat Gaucher disease. Blood 2011;118:1463-71
-
(2011)
Blood
, vol.118
, pp. 1463-1471
-
-
Zimran, A.1
-
37
-
-
0028176432
-
N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis
-
Platt FM, Neises GR, Dwek RA, et al. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 1994;269:8362-5
-
(1994)
J Biol Chem
, vol.269
, pp. 8362-8365
-
-
Platt, F.M.1
Neises, G.R.2
Dwek, R.A.3
-
38
-
-
33846994522
-
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2
-
Boot RG, Verhoek M, Donker-Koopman W, et al. Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2. J Biol Chem 2007;282:1305-12
-
(2007)
J Biol Chem
, vol.282
, pp. 1305-1312
-
-
Boot, R.G.1
Verhoek, M.2
Donker-Koopman, W.3
-
39
-
-
84878381985
-
Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study
-
Kuter DJ, Mehta A, Hollak CEM, et al. Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study. Blood Cells Mol Dis 2013;51:116-24
-
(2013)
Blood Cells Mol Dis
, vol.51
, pp. 116-124
-
-
Kuter, D.J.1
Mehta, A.2
Hollak, C.E.M.3
-
40
-
-
7244254360
-
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type i Gaucher disease
-
Elstein D, Hollak C, Aerts JMFG, et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 2004;27:757-66
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 757-766
-
-
Elstein, D.1
Hollak, C.2
Jmfg, A.3
-
41
-
-
57749100376
-
Randomized, controlled trial of miglustat in Gaucher's disease type 3
-
Schiffmann R, Fitzgibbon EJ, Harris C, et al. Randomized, controlled trial of miglustat in Gaucher's disease type 3. Ann Neurol 2008;64:514-22
-
(2008)
Ann Neurol
, vol.64
, pp. 514-522
-
-
Schiffmann, R.1
Fitzgibbon, E.J.2
Harris, C.3
-
42
-
-
77957551053
-
Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study
-
Lukina E, Watman N, Arreguin EA, et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood 2010;116:4095-8
-
(2010)
Blood
, vol.116
, pp. 4095-4098
-
-
Lukina, E.1
Watman, N.2
Arreguin, E.A.3
-
43
-
-
77957605619
-
Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases
-
Cox TM. Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Curr Opin Investig Drugs 2010;11:1169-81
-
(2010)
Curr Opin Investig Drugs
, vol.11
, pp. 1169-1181
-
-
Cox, T.M.1
-
44
-
-
56749176947
-
One step at a time: Endoplasmic reticulum-associated degradation
-
Vembar SS, Brodsky JL. One step at a time: endoplasmic reticulum-associated degradation. Nat Rev Mol Cell Biol 2008;9:944-57
-
(2008)
Nat Rev Mol Cell Biol
, vol.9
, pp. 944-957
-
-
Vembar, S.S.1
Brodsky, J.L.2
-
45
-
-
75649114551
-
Mechanism and components of endoplasmic reticulum-associated degradation
-
Hoseki J, Ushioda R, Nagata K. Mechanism and components of endoplasmic reticulum-associated degradation. J Biochem 2010;147:19-25
-
(2010)
J Biochem
, vol.147
, pp. 19-25
-
-
Hoseki, J.1
Ushioda, R.2
Nagata, K.3
-
46
-
-
26444609722
-
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
-
Ron I, Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet 2005;14:2387-98
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2387-2398
-
-
Ron, I.1
Horowitz, M.2
-
47
-
-
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, et al. High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase. PLoS One 2012;7:e29861
-
(2012)
PLoS One
, vol.7
, pp. e29861
-
-
Goldin, E.1
Zheng, W.2
Motabar, O.3
-
48
-
-
84863083762
-
Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase
-
Patnaik S, Zheng W, Choi JH, et al. Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase. J Med Chem 2012;55:5734-48
-
(2012)
J Med Chem
, vol.55
, pp. 5734-5748
-
-
Patnaik, S.1
Zheng, W.2
Choi, J.H.3
-
49
-
-
0037180511
-
Chemical chaperones increase the cellular activity of N370S beta-glucosidase: A therapeutic strategy for Gaucher disease
-
Sawkar AR, Cheng W-C, Beutler E, et al. Chemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci USA 2002;99:15428-33
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 15428-15433
-
-
Sawkar, A.R.1
Cheng, W.-C.2
Beutler, E.3
-
51
-
-
69949119548
-
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
-
Maegawa GHB, Tropak MB, Buttner JD, et al. Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem 2009;284:23502-16
-
(2009)
J Biol Chem
, vol.284
, pp. 23502-23516
-
-
Maegawa, G.H.B.1
Tropak, M.B.2
Buttner, J.D.3
-
52
-
-
47149109272
-
Ambroxol: A CNS drug?
-
Weiser T. Ambroxol: a CNS drug? CNS Neurosci Ther 2008;14:17-24
-
(2008)
CNS Neurosci Ther
, vol.14
, pp. 17-24
-
-
Weiser, T.1
-
53
-
-
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 2013;50:134-7
-
(2013)
Blood Cells Mol Dis
, vol.50
, pp. 134-137
-
-
Zimran, A.1
Altarescu, G.2
Elstein, D.3
-
54
-
-
84871999477
-
Commentary on "pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease" by Zimran et al
-
Goker-Alpan O. Commentary on "Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease" by Zimran et al. Blood Cells Mol Dis 2013;50:138-9
-
(2013)
Blood Cells Mol Dis
, vol.50
, pp. 138-139
-
-
Goker-Alpan, O.1
-
55
-
-
0031467358
-
Gaucher's disease: Studies of gene transfer to haematopoietic cells
-
Barranger JA, Rice EO, Dunigan J, et al. Gaucher's disease: studies of gene transfer to haematopoietic cells. Baillieres Clin Haematol 1997;10:765-78
-
(1997)
Baillieres Clin Haematol
, vol.10
, pp. 765-778
-
-
Barranger, J.A.1
Rice, E.O.2
Dunigan, J.3
-
56
-
-
65249168134
-
Successful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher disease
-
Enquist IB, Nilsson E, Ma°nsson J-E, et al. Successful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher disease. Stem Cells 2009;27:744-52
-
(2009)
Stem Cells
, vol.27
, pp. 744-752
-
-
Enquist, I.B.1
Nilsson, E.2
Mansson, J.-E.3
-
57
-
-
2142713043
-
Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: Implications for gene therapy of Gaucher disease
-
Kim EY, Hong YB, Lai Z, et al. Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease. Biochem Biophys Res Commun 2004;318:381-90
-
(2004)
Biochem Biophys Res Commun
, vol.318
, pp. 381-390
-
-
Kim, E.Y.1
Hong, Y.B.2
Lai, Z.3
-
58
-
-
0347383863
-
Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease
-
Diaz-Font A, Cormand B, Chabas A, et al. Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells Mol Dis 2003;31:183-6
-
(2003)
Blood Cells Mol Dis
, vol.31
, pp. 183-186
-
-
Diaz-Font, A.1
Cormand, B.2
Chabas, A.3
-
59
-
-
33745242833
-
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease
-
McEachern KA, Nietupski JB, Chuang W-L, et al. AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J Gene Med 2006;8:719-29
-
(2006)
J Gene Med
, vol.8
, pp. 719-729
-
-
McEachern, K.A.1
Nietupski, J.B.2
Chuang, W.-L.3
-
60
-
-
0031436478
-
Gaucher's disease: Clinical features and natural history
-
Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Baillieres Clin Haematol 1997;10:657-89
-
(1997)
Baillieres Clin Haematol
, vol.10
, pp. 657-689
-
-
Cox, T.M.1
Schofield, J.P.2
-
61
-
-
84876180986
-
A single intravenous AAV9 injection mediates bilateral gene transfer to the adult mouse retina
-
Bemelmans A-P, Duque S, Riviere C, et al. A single intravenous AAV9 injection mediates bilateral gene transfer to the adult mouse retina. PLoS One 2013;8:e61618
-
(2013)
PLoS One
, vol.8
, pp. e61618
-
-
Bemelmans, A.-P.1
Duque, S.2
Riviere, C.3
-
62
-
-
80053923197
-
Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system
-
Rahim AA, Wong AMS, Hoefer K, et al. Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system. FASEB J 2011;25:3505-18
-
(2011)
FASEB J
, vol.25
, pp. 3505-3518
-
-
Rahim, A.A.1
Wong, A.M.S.2
Hoefer, K.3
-
63
-
-
84923072253
-
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons
-
Korkotian E, Schwarz A, Pelled D, et al. Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. Clin Immunol 1999;147:21673-8
-
(1999)
Clin Immunol
, vol.147
, pp. 21673-21678
-
-
Korkotian, E.1
Schwarz, A.2
Pelled, D.3
-
64
-
-
11844278539
-
Enhanced calcium release in the acute neuronopathic form of Gaucher disease
-
Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, et al. Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis 2005;18:83-8
-
(2005)
Neurobiol Dis
, vol.18
, pp. 83-88
-
-
Pelled, D.1
Trajkovic-Bodennec, S.2
Lloyd-Evans, E.3
-
65
-
-
84878811164
-
Mitochondria and quality control defects in a mouse model of Gaucher disease-links to Parkinson's disease
-
Osellame LD, Rahim AA, Hargreaves IP, et al. Mitochondria and quality control defects in a mouse model of Gaucher disease-links to Parkinson's disease. Cell Metab 2013;17:941-53
-
(2013)
Cell Metab
, vol.17
, pp. 941-953
-
-
Osellame, L.D.1
Rahim, A.A.2
Hargreaves, I.P.3
-
66
-
-
84893009529
-
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration
-
Farfel-Becker T, Vitner EB, Kelly SL, et al. Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration. Hum Mol Genet 2014;23:843-54
-
(2014)
Hum Mol Genet
, vol.23
, pp. 843-854
-
-
Farfel-Becker, T.1
Vitner, E.B.2
Kelly, S.L.3
-
67
-
-
77649211816
-
Disease pathogenesis explained by basic science: Lysosomal storage diseases as autophagocytic disorders
-
Ballabio A. Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. Int J Clin Pharmacol Ther 2009;47(Suppl 1):S34-8
-
(2009)
Int J Clin Pharmacol Ther
, vol.47
, pp. S34-S38
-
-
Ballabio, A.1
-
68
-
-
84883662716
-
Beta-Glucosidase 2 (GBA2) activity and imino sugar pharmacology
-
Ridley CM, Thur KE, Shanahan J, et al. Beta-Glucosidase 2 (GBA2) activity and imino sugar pharmacology. J Biol Chem 2013;288:26052-66
-
(2013)
J Biol Chem
, vol.288
, pp. 26052-26066
-
-
Ridley, C.M.1
Thur, K.E.2
Shanahan, J.3
-
69
-
-
33750595463
-
Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility
-
Yildiz Y, Matern H, Thompson B, et al. Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility. J Clin Invest 2006;116:2985-94
-
(2006)
J Clin Invest
, vol.116
, pp. 2985-2994
-
-
Yildiz, Y.1
Matern, H.2
Thompson, B.3
-
70
-
-
84899067023
-
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
-
Citterio A, Arnoldi A, Panzeri E, et al. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. J Neurol 2014;261:373-81
-
(2014)
J Neurol
, vol.261
, pp. 373-381
-
-
Citterio, A.1
Arnoldi, A.2
Panzeri, E.3
-
71
-
-
84873707921
-
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia
-
Martin E, Schüle R, Smets K, et al. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet 2013;92:238-44
-
(2013)
Am J Hum Genet
, vol.92
, pp. 238-244
-
-
Martin, E.1
Schüle, R.2
Smets, K.3
-
72
-
-
84873733145
-
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity
-
Hammer MB, Eleuch-Fayache G, Schottlaender LV, et al. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet 2013;92:245-51
-
(2013)
Am J Hum Genet
, vol.92
, pp. 245-251
-
-
Hammer, M.B.1
Eleuch-Fayache, G.2
Schottlaender, L.V.3
-
73
-
-
84897520098
-
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
-
Mistry PK, Liu J, Sun L, et al. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proc Natl Acad Sci USA 2014;111:4934-9
-
(2014)
Proc Natl Acad Sci USA
, vol.111
, pp. 4934-4939
-
-
Mistry, P.K.1
Liu, J.2
Sun, L.3
-
74
-
-
33748793666
-
Effective cell and gene therapy in a murine model of Gaucher disease
-
Enquist IB, Nilsson E, Ooka A, et al. Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci USA 2006;103:13819-24
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 13819-13824
-
-
Enquist, I.B.1
Nilsson, E.2
Ooka, A.3
-
75
-
-
78650614891
-
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
-
Mistry PK, Liu J, Yang M, et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci USA 2010;107:19473-8
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 19473-19478
-
-
Mistry, P.K.1
Liu, J.2
Yang, M.3
-
76
-
-
84880408384
-
Sphingolipid metabolism and neutral sphingomyelinases
-
Airola MV, Hannun YA. Sphingolipid metabolism and neutral sphingomyelinases. Handb Exp Pharmacol 2013(215):57-76
-
(2013)
Handb Exp Pharmacol
, Issue.215
, pp. 57-76
-
-
Airola, M.V.1
Hannun, Y.A.2
-
77
-
-
67649710875
-
Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation
-
Kitatani K, Sheldon K, Rajagopalan V, et al. Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation. J Biol Chem 2009;284:12972-8
-
(2009)
J Biol Chem
, vol.284
, pp. 12972-12978
-
-
Kitatani, K.1
Sheldon, K.2
Rajagopalan, V.3
-
78
-
-
67649752327
-
Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: Possible role for ceramide as an anti-inflammatory lipid
-
Kitatani K, Sheldon K, Anelli V, et al. Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. J Biol Chem 2009;284:12979-88
-
(2009)
J Biol Chem
, vol.284
, pp. 12979-12988
-
-
Kitatani, K.1
Sheldon, K.2
Anelli, V.3
-
79
-
-
84884538436
-
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
-
Yildiz Y, Hoffmann P, Dahl Vom S, et al. Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease. Orphanet J Rare Dis 2013;8:151
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 151
-
-
Yildiz, Y.1
Hoffmann, P.2
Dahl Vom, S.3
-
80
-
-
84893808994
-
RIPK3 as a potential therapeutic target for Gaucher's disease
-
Vitner EB, Salomon R, Farfel-Becker T, et al. RIPK3 as a potential therapeutic target for Gaucher's disease. Nat Med 2014;20:204-8
-
(2014)
Nat Med
, vol.20
, pp. 204-208
-
-
Vitner, E.B.1
Salomon, R.2
Farfel-Becker, T.3
-
81
-
-
84899062708
-
Necrosis-dependent and independent signaling of the RIP kinases in inflammation
-
Moriwaki K, Chan FKM. Necrosis-dependent and independent signaling of the RIP kinases in inflammation. Cytokine Growth Factor Rev 2013;25:167-74
-
(2013)
Cytokine Growth Factor Rev
, vol.25
, pp. 167-174
-
-
Moriwaki, K.1
Chan, F.K.M.2
-
82
-
-
84881075820
-
RIP3: A molecular switch for necrosis and inflammation
-
Moriwaki K, Chan FK-M. RIP3: a molecular switch for necrosis and inflammation. Genes Dev 2013;27:1640-9
-
(2013)
Genes Dev
, vol.27
, pp. 1640-1649
-
-
Moriwaki, K.1
Chan, F.K.-M.2
-
83
-
-
84908700838
-
Necroptosis in health and diseases
-
Zhou W, Yuan J. Necroptosis in health and diseases. Semin Cell Dev Biol 2014;35C:14-23
-
(2014)
Semin Cell Dev Biol
, vol.35 C
, pp. 14-23
-
-
Zhou, W.1
Yuan, J.2
-
86
-
-
84886656964
-
Toll-like Receptor 3-mediated necrosis via TRIF, RIP3 and MLKL
-
Kaiser WJ, Sridharan H, Huang C, et al. Toll-like Receptor 3-mediated necrosis via TRIF, RIP3 and MLKL. J Biol Chem 2013;288(43):31268-79
-
(2013)
J Biol Chem
, vol.288
, Issue.43
, pp. 31268-31279
-
-
Kaiser, W.J.1
Sridharan, H.2
Huang, C.3
-
87
-
-
84862907788
-
Mixed lineage kinase domain-like protein mediates necrosis signaling downstream of RIP3 kinase
-
Sun L, Wang H, Wang Z, et al. Mixed lineage kinase domain-like protein mediates necrosis signaling downstream of RIP3 kinase. Cell 2012;148:213-27
-
(2012)
Cell
, vol.148
, pp. 213-227
-
-
Sun, L.1
Wang, H.2
Wang, Z.3
-
88
-
-
84903791583
-
The B-Raf(V600E) inhibitor dabrafenib selectively inhibits RIP3 and alleviates acetaminophen-induced liver injury
-
Li J-X, Feng J-M, Wang Y, et al. The B-Raf(V600E) inhibitor dabrafenib selectively inhibits RIP3 and alleviates acetaminophen-induced liver injury. Cell Death Dis 2014;5:e1278
-
(2014)
Cell Death Dis
, vol.5
, pp. e1278
-
-
Li, J.-X.1
Feng, J.-M.2
Wang, Y.3
-
89
-
-
84874442053
-
Mechanisms limiting distribution of the threonine-protein kinase B-RaF(V600E) inhibitor dabrafenib to the brain: Implications for the treatment of melanoma brain metastases
-
Mittapalli RK, Vaidhyanathan S, Dudek AZ, et al. Mechanisms limiting distribution of the threonine-protein kinase B-RaF(V600E) inhibitor dabrafenib to the brain: implications for the treatment of melanoma brain metastases. J Pharmacol Exp Ther 2013;344:655-64
-
(2013)
J Pharmacol Exp Ther
, vol.344
, pp. 655-664
-
-
Mittapalli, R.K.1
Vaidhyanathan, S.2
Dudek, A.Z.3
-
90
-
-
84864003121
-
Necrostatin-1 attenuates mitochondrial dysfunction in neurons and astrocytes following neonatal hypoxia-ischemia
-
Chavez-Valdez R, Martin LJ, Flock DL, et al. Necrostatin-1 attenuates mitochondrial dysfunction in neurons and astrocytes following neonatal hypoxia-ischemia. Neuroscience 2012;219:192-203
-
(2012)
Neuroscience
, vol.219
, pp. 192-203
-
-
Chavez-Valdez, R.1
Martin, L.J.2
Flock, D.L.3
-
91
-
-
77952059124
-
Necroptosis, a novel form of caspase-independent cell death, contributes to neuronal damage in a retinal ischemia-reperfusion injury model
-
Rosenbaum DM, Degterev A, David J, et al. Necroptosis, a novel form of caspase-independent cell death, contributes to neuronal damage in a retinal ischemia-reperfusion injury model. J Neurosci Res 2010;88:1569-76
-
(2010)
J Neurosci Res
, vol.88
, pp. 1569-1576
-
-
Rosenbaum, D.M.1
Degterev, A.2
David, J.3
-
92
-
-
78650718758
-
Receptor interacting protein kinases mediate retinal detachment-induced photoreceptor necrosis and compensate for inhibition of apoptosis
-
Trichonas G, Murakami Y, Thanos A, et al. Receptor interacting protein kinases mediate retinal detachment-induced photoreceptor necrosis and compensate for inhibition of apoptosis. Proc Natl Acad Sci USA 2010;107:21695-700
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 21695-21700
-
-
Trichonas, G.1
Murakami, Y.2
Thanos, A.3
-
93
-
-
50249132439
-
Necrostatin-1 reduces histopathology and improves functional outcome after controlled cortical impact in mice
-
You Z, Savitz SI, Yang J, et al. Necrostatin-1 reduces histopathology and improves functional outcome after controlled cortical impact in mice. J Cereb Blood Flow Metab 2008;28:1564-73
-
(2008)
J Cereb Blood Flow Metab
, vol.28
, pp. 1564-1573
-
-
You, Z.1
Savitz, S.I.2
Yang, J.3
-
94
-
-
34247264421
-
Structure-activity relationship study of tricyclic necroptosis inhibitors
-
Jagtap PG, Degterev A, Choi S, et al. Structure-activity relationship study of tricyclic necroptosis inhibitors. J Med Chem 2007;50:1886-95
-
(2007)
J Med Chem
, vol.50
, pp. 1886-1895
-
-
Jagtap, P.G.1
Degterev, A.2
Choi, S.3
-
95
-
-
79954525274
-
Necrostatin-1 ameliorates symptoms in R6/2 transgenic mouse model of Huntington's disease
-
Zhu S, Zhang Y, Bai G, et al. Necrostatin-1 ameliorates symptoms in R6/2 transgenic mouse model of Huntington's disease. Cell Death Dis 2011;2:e115
-
(2011)
Cell Death Dis
, vol.2
, pp. e115
-
-
Zhu, S.1
Zhang, Y.2
Bai, G.3
-
96
-
-
84895508213
-
Necroptosis drives motor neuron death in models of both sporadic and familial ALS
-
Re DB, Le Verche V, Yu C, et al. Necroptosis drives motor neuron death in models of both sporadic and familial ALS. Neuron 2014;81:1001-8
-
(2014)
Neuron
, vol.81
, pp. 1001-1008
-
-
Re, D.B.1
Le Verche, V.2
Yu, C.3
-
97
-
-
79960921946
-
The Ripoptosome, a signaling platform that assembles in response to genotoxic stress and loss of IAPs
-
Tenev T, Bianchi K, Darding M, et al. The Ripoptosome, a signaling platform that assembles in response to genotoxic stress and loss of IAPs. Mol Cell 2011;43:432-48
-
(2011)
Mol Cell
, vol.43
, pp. 432-448
-
-
Tenev, T.1
Bianchi, K.2
Darding, M.3
-
98
-
-
0033214236
-
Cleavage of the death domain kinase RIP by caspase-8 prompts TNF-induced apoptosis
-
Lin Y, Devin A, Rodriguez Y, et al. Cleavage of the death domain kinase RIP by caspase-8 prompts TNF-induced apoptosis. Genes Dev 1999;13:2514-26
-
(1999)
Genes Dev
, vol.13
, pp. 2514-2526
-
-
Lin, Y.1
Devin, A.2
Rodriguez, Y.3
-
99
-
-
66449133280
-
Phosphorylation-driven assembly of the RIP1-RIP3 complex regulates programmed necrosis and virus-induced inflammation
-
Cho Y, Challa S, Moquin D, et al. Phosphorylation-driven assembly of the RIP1-RIP3 complex regulates programmed necrosis and virus-induced inflammation. Cell 2009;137:1112-23
-
(2009)
Cell
, vol.137
, pp. 1112-1123
-
-
Cho, Y.1
Challa, S.2
Moquin, D.3
-
100
-
-
66749183275
-
Receptor interacting protein kinase-3 determines cellular necrotic response to TNF-alpha
-
He S, Wang L, Miao L, et al. Receptor interacting protein kinase-3 determines cellular necrotic response to TNF-alpha. Cell 2009;137:1100-11
-
(2009)
Cell
, vol.137
, pp. 1100-1111
-
-
He, S.1
Wang, L.2
Miao, L.3
-
101
-
-
67650638892
-
RIP kinases at the crossroads of cell death and survival
-
Declercq W, Vanden Berghe T, Vandenabeele P. RIP kinases at the crossroads of cell death and survival. Cell 2009;138:229-32
-
(2009)
Cell
, vol.138
, pp. 229-232
-
-
Declercq, W.1
Vanden Berghe, T.2
Vandenabeele, P.3
-
102
-
-
84861552789
-
Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease
-
Vitner EB, Farfel-Becker T, Eilam R, et al. Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. Brain 2012;135:1724-35
-
(2012)
Brain
, vol.135
, pp. 1724-1735
-
-
Vitner, E.B.1
Farfel-Becker, T.2
Eilam, R.3
-
103
-
-
84055181328
-
Toll-like receptors activate programmed necrosis in macrophages through a receptor-interacting kinase-3-mediated pathway
-
He S, Liang Y, Shao F, et al. Toll-like receptors activate programmed necrosis in macrophages through a receptor-interacting kinase-3-mediated pathway. Proc Natl Acad Sci USA 2011;108:20054-9
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 20054-20059
-
-
He, S.1
Liang, Y.2
Shao, F.3
-
104
-
-
84901045151
-
Caspase-8 and RIP kinases regulate bacteria-induced innate immune responses and cell death
-
Weng D, Marty-Roix R, Ganesan S, et al. Caspase-8 and RIP kinases regulate bacteria-induced innate immune responses and cell death. Proc Natl Acad Sci USA 2014;111(20):7391-6
-
(2014)
Proc Natl Acad Sci USA
, vol.111
, Issue.20
, pp. 7391-7396
-
-
Weng, D.1
Marty-Roix, R.2
Ganesan, S.3
-
106
-
-
84882430393
-
Interferon-induced RIP1/RIP3-mediated necrosis requires PKR and is licensed by FADD and caspases
-
E3109-18
-
Thapa RJ, Nogusa S, Chen P, et al. Interferon-induced RIP1/RIP3-mediated necrosis requires PKR and is licensed by FADD and caspases. Proc Natl Acad Sci USA 2013;110:E3109-18
-
(2013)
Proc Natl Acad Sci USA
, vol.110
-
-
Thapa, R.J.1
Nogusa, S.2
Chen, P.3
-
107
-
-
84866544929
-
Type i interferon induces necroptosis in macrophages during infection with Salmonella enterica serovar Typhimurium
-
Robinson N, McComb S, Mulligan R, et al. Type I interferon induces necroptosis in macrophages during infection with Salmonella enterica serovar Typhimurium. Nat Immunol 2012;13:954-62
-
(2012)
Nat Immunol
, vol.13
, pp. 954-962
-
-
Robinson, N.1
McComb, S.2
Mulligan, R.3
-
108
-
-
84881097754
-
Anti-interferon alpha treatment in SLE
-
Kirou KA, Gkrouzman E. Anti-interferon alpha treatment in SLE. Clin Immunol 2013;148:303-12
-
(2013)
Clin Immunol
, vol.148
, pp. 303-312
-
-
Kirou, K.A.1
Gkrouzman, E.2
-
109
-
-
84872764927
-
Caspase-8 blocks kinase RIPK3-mediated activation of the NLRP3 inflammasome
-
Kang T-B, Yang S-H, Toth B, et al. Caspase-8 blocks kinase RIPK3-mediated activation of the NLRP3 inflammasome. Immunity 2013;38:27-40
-
(2013)
Immunity
, vol.38
, pp. 27-40
-
-
Kang, T.-B.1
Yang, S.-H.2
Toth, B.3
-
110
-
-
4644362866
-
Nucleocytoplasmic shuttling of receptor-interacting protein 3 (RIP3): Identification of novel nuclear export and import signals in RIP3
-
Yang Y, Ma J, Chen Y, et al. Nucleocytoplasmic shuttling of receptor-interacting protein 3 (RIP3): identification of novel nuclear export and import signals in RIP3. J Biol Chem 2004;279:38820-9
-
(2004)
J Biol Chem
, vol.279
, pp. 38820-38829
-
-
Yang, Y.1
Ma, J.2
Chen, Y.3
-
111
-
-
84901280344
-
MLKL compromises plasma membrane integrity by binding to phosphatidylinositol phosphates
-
Dondelinger Y, Declercq W, Montessuit S, et al. MLKL compromises plasma membrane integrity by binding to phosphatidylinositol phosphates. Cell Rep 2014;7:971-81
-
(2014)
Cell Rep
, vol.7
, pp. 971-981
-
-
Dondelinger, Y.1
Declercq, W.2
Montessuit, S.3
-
112
-
-
84898027331
-
Mixed lineage kinase domain-like protein MLKL causes necrotic membrane disruption upon phosphorylation by RIP3
-
Wang H, Sun L, Su L, et al. Mixed lineage kinase domain-like protein MLKL causes necrotic membrane disruption upon phosphorylation by RIP3. Mol Cell 2014;54:133-46
-
(2014)
Mol Cell
, vol.54
, pp. 133-146
-
-
Wang, H.1
Sun, L.2
Su, L.3
-
113
-
-
84857404572
-
Inhibitor of apoptosis proteins limit RIP3 kinase-dependent interleukin-1 activation
-
Vince JE, Wong WW, Gentle I, et al. Inhibitor of apoptosis proteins limit RIP3 kinase-dependent interleukin-1 activation. Immunity 2012;36:215-27
-
(2012)
Immunity
, vol.36
, pp. 215-227
-
-
Vince, J.E.1
Wong, W.W.2
Gentle, I.3
-
114
-
-
70350484946
-
Caspase-8 deficiency in epidermal keratinocytes triggers an inflammatory skin disease
-
Kovalenko A, Kim J-C, Kang T-B, et al. Caspase-8 deficiency in epidermal keratinocytes triggers an inflammatory skin disease. J Exp Med 2009;206:2161-77
-
(2009)
J Exp Med
, vol.206
, pp. 2161-2177
-
-
Kovalenko, A.1
Kim, J.-C.2
Kang, T.-B.3
-
115
-
-
63649143438
-
Dynamic expression of epidermal caspase 8 simulates a wound healing response
-
Lee P, Lee D-J, Chan C, et al. Dynamic expression of epidermal caspase 8 simulates a wound healing response. Nature 2009;458:519-23
-
(2009)
Nature
, vol.458
, pp. 519-523
-
-
Lee, P.1
Lee, D.-J.2
Chan, C.3
-
116
-
-
79952811804
-
RIP3 mediates the embryonic lethality of caspase-8-deficient mice
-
Kaiser WJ, Upton JW, Long AB, et al. RIP3 mediates the embryonic lethality of caspase-8-deficient mice. Nature 2011;471:368-72
-
(2011)
Nature
, vol.471
, pp. 368-372
-
-
Kaiser, W.J.1
Upton, J.W.2
Long, A.B.3
-
117
-
-
84882274510
-
Inflammasome and cytokine blocking strategies in autoinflammatory disorders
-
Moll M, Kuemmerle-Deschner JB. Inflammasome and cytokine blocking strategies in autoinflammatory disorders. Clin Immunol 2013;147:242-75
-
(2013)
Clin Immunol
, vol.147
, pp. 242-275
-
-
Moll, M.1
Kuemmerle-Deschner, J.B.2
-
118
-
-
0028785109
-
Murine model of genetic demyelinating disease: The twitcher mouse
-
Suzuki K, Taniike M. Murine model of genetic demyelinating disease: the twitcher mouse. Microsc Res Tech 1995;32:204-14
-
(1995)
Microsc Res Tech
, vol.32
, pp. 204-214
-
-
Suzuki, K.1
Taniike, M.2
-
119
-
-
36849057499
-
Murine models of acute neuronopathic Gaucher disease
-
Enquist IB, Bianco Lo C, Ooka A, et al. Murine models of acute neuronopathic Gaucher disease. Proc Natl Acad Sci USA 2007;104:17483-8
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 17483-17488
-
-
Enquist, I.B.1
Bianco Lo, C.2
Ooka, A.3
-
120
-
-
43249127471
-
Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels
-
Xu Y-H, Reboulet R, Quinn B, et al. Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels. Mol Genet Metab 2008;94:190-203
-
(2008)
Mol Genet Metab
, vol.94
, pp. 190-203
-
-
Xu, Y.-H.1
Reboulet, R.2
Quinn, B.3
-
121
-
-
84903984646
-
Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice
-
Xu Y-H, Xu K, Sun Y, et al. Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice. Hum Mol Genet 2014;23:3943-57
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3943-3957
-
-
Xu, Y.-H.1
Xu, K.2
Sun, Y.3
-
122
-
-
84873040393
-
Neuronopathic Gaucher's disease: Induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds
-
Tiscornia G, Vivas EL, Matalonga L, et al. Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. Hum Mol Genet 2013;22:633-45
-
(2013)
Hum Mol Genet
, vol.22
, pp. 633-645
-
-
Tiscornia, G.1
Vivas, E.L.2
Matalonga, L.3
-
123
-
-
84903179045
-
Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs
-
Aflaki E, Stubblefield BK, Maniwang E, et al. Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs. Sci Transl Med 2014;6:240ra73
-
(2014)
Sci Transl Med
, vol.6
, pp. 240ra73
-
-
Aflaki, E.1
Stubblefield, B.K.2
Maniwang, E.3
-
124
-
-
84868089871
-
Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease
-
Panicker LM, Miller D, Park TS, et al. Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease. Proc Natl Acad Sci USA 2012;109:18054-9
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 18054-18059
-
-
Panicker, L.M.1
Miller, D.2
Park, T.S.3
|