[1] van Dussen L, Biegstraaten M, Hollak CE, Dijkgraaf MG. Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease. Orphanet J Rare Dis , 2014, 9(1): 51-63. [2] Sobreira E, Pires RF, Cizmarik M, Grabowski GA. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest-of-the-world. Mol Genet Metab , 2007, 90(1): 81-86. [3] Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA , 1999, 281(3): 249-254. [4] Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet , 2008, 372(9645): 1263-1271. [5] Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E. Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications. Mol Genet Metab , 2011, 104(4): 631-636. [6] Elstein D, Abrahamov A, Altarescu G, Zimran A. Evolving features in type 3 Gaucher disease on long-term enzyme replacement therapy. Blood Cells Mol Dis , 2013, 50(2): 140. [7] Bendikov-Bar I, Ron I, Filocamo M, Horowitz M. Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant. Blood Cells Mol Dis , 2011, 46(1): 4-10. [8] Bendikov-Bar I, Horowitz M. Gaucher disease paradigm: from ERAD to comorbidity. Hum Mutat , 2012, 33(10): 1398-1407. [9] Yang CZ, Rahimpour S, Lu J, Pacak K, Ikejiri B, Brady RO, Zhuang ZP. Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones. Proc Natl Acad Sci USA , 2013, 110(3): 966-971. [10] Wang F, Chou A, Segatori L. Lacidipine remodels protein folding and Ca 2+ homeostasis in Gaucher's disease fibroblasts: a mechanism to rescue mutant glucocerebrosidase. Chem Biol , 2011, 18(6): 766-776. [11] Tan YL, Genereux JC, Pankow S, Aerts JMFG, Yates JRIII, Kelly JW. ERdj3 Is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to gaucher's disease. Chem Biol , 2014, 21(8): 967-976. [12] Tamargo RJ, Velayati A, Goldin E, Sidransky E. The role of saposin C in Gaucher disease. Mol Genet Metab , 2012, 106(3): 257-263. [13] Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. A mutation in SCARB2 is a modifier in Gaucher disease. Hum Mutat , 2011, 32(11): 1232-1238. [14] Alfonso P, Pampin S, García-Rodríguez B, Tejedor T, Domínguez C, Rodríguez-Rey JC, Giraldo P, Pocoví M. Characterization of the c. (-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease. Clin Chim Acta , 2011, 412(3-4): 365-369. [15] Sardi SP, Singh P, Cheng SH, Shihabuddin LS, Schlossmacher MG. Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models. Neurodegener Dis , 2012, 10(1-4): 195-202. [16] Yap TL, Velayati A, Sidransky E, Lee JC. Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity. Mol Genet Metab , 2013, 108(1): 56-64. [17] Grabowski GA. Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program , 2012, 2012(1): 13-18. [18] Franco M, Collec E, Connes P, van den Akker E, de Villemeur T B, Belmatoug N, von Lindern M, Ameziane N, Hermine O, Colin Y, Le Van Kim C, Mignot C. Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease. Blood , 2013, 121(3): 546-555. [19] Liu J, Halene S, Yang M, Iqbal J, Yang RH, Mehal WZ, Chuang WL, Jain D, Yuen T, Sun L, Zaidi M, Mistry PK. Gaucher disease gene GBA functions in immune regulation. Proc Natl Acad Sci USA , 2012, 109(25): 10018-10023. [20] Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao HY, Lin AP, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci USA , 2010, 107(45): 19473-19478. [21] Vitner EB, Farfel-Becker T, Eilam R, Biton I, Futerman AH. Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. Brain , 2012, 135(Pt 6): 1724-1735. [22] Degterev A, Huang ZH, Boyce M, Li YQ, Jagtap P, Mizushima N, Cuny GD, Mitchison TJ, Moskowitz MA, Yuan JY. Chemical inhibitor of nonapoptotic cell death with therapeutic potential for ischemic brain injury. Nat Chem Biol , 2005, 1(2): 112-119. [23] Vandenabeele P, Galluzzi L, Vanden Berghe T, Kroemer G. Molecular mechanisms of necroptosis: an ordered cellular explosion. Nat Rev Mol Cell Biol , 2010, 11(10): 700-714. [24] Vitner EB, Salomon R, Farfel-Becker T, Meshcheriakova A, Ali M, Klein AD, Platt FM, Cox TM, Futerman AH. RIPK3 as a potential therapeutic target for Gaucher's disease. Nat Med , 2014, 20(2): 204-208. [25] Giraldo P, Irún P, Alfonso P, Dalmau J, Fernández-Galán MA, Figueredo A, Hernández-Rivas JM, Julia A, Luño E, Marín-Jimenez F, Martín-Nuñez G, Montserrat JL, de la Serna J, Vidaller A, Villalón L, Pocovi M. Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage. Blood Cells Mol Dis , 2011, 46(1): 115-118. [26] Khalifa AS, Tantawy AA, Shawky RM, Monir E, Elsayed SM, Fateen E, Cooper A. Outcome of enzyme replacement therapy in children with Gaucher disease: The Egyptian experience. Egypt J Med Human Genet , 2011, 12(1): 9-14. [27] Elstein D, Haims AH, Zahrieh D, Cohn GM, Zimran A. Impact of velaglucerase alfa on bone marrow burden score in adult patients with type 1 Gaucher disease: 7-year follow-up. Blood Cells Mol Dis , 2014, 53(1-2): 56-60. [28] van Dussen L, Zimran A, Akkerman EM, Aerts JMFG, Petakov M, Elstein D, Rosenbaum H, Aviezer D, Brill- Almon E, Chertkoff R, Maas M, Hollak CE. Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease. Blood Cells Mol Dis , 2013, 50(3): 206-211. [29] Lee JY, Lee BH, Kim GH, Jung CW, Lee J, Choi JH, Yoo HW. Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups. Korean J Pediatr , 2012, 55(2): 48-53. [30] Singla M, Arivarasan K, Dhir V, Sharma P, Sharma A, Sharma S, Singh S. Medical image. an unusual cause of massive splenomegaly in an adult. Gaucher's disease. N Z Med J , 2012, 125(1361): 98-101. [31] Suzuki Y. Chaperone therapy update: Fabry disease, G M1 -gangliosidosis and Gaucher disease. Brain Dev , 2013, 35(6): 515-523. [32] Kamath RS, Lukina E, Watman N, Dragosky M, Pastores GM, Arreguin EA, Rosenbaum H, Zimran A, Aguzzi R, Puga AC, Norfleet AM, Peterschmitt MJ, Rosenthal DI. Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol , 2014, 43(10): 1353-1360. [33] Ayto RM, Hughes DA, Jeevaratnam P, Rolles K, Burroughs AK, Mistry PK, Mehta AB, Pastores GM. Long- term outcomes of liver transplantation in type 1 Gaucher disease. Am J Transplant , 2010, 10(8): 1934-1939. [34] Khanna R, Soska R, Lun Y, Feng J, Frascella M, Young B, Brignol N, Pellegrino L, Sitaraman SA, Desnick RJ, Benjamin ER, Lockhart DJ, Valenzano KJ. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther , 2010, 18(1): 23-33. [35] Xiao JB, Westbroek W, Motabar O, Lea WA, Hu X, Velayati A, Zheng W, Southall N, Gustafson AM, Goldin E, Sidransky E, Liu K, Simeonov A, Tamargo RJ, Ribes A, Matalonga L, Ferrer M, Marugan JJ. Discovery of a novel noniminosugar acid α glucosidase chaperone series. J Med Chem , 2012, 55(17): 7546-7559. [36] Wang GN, Twigg G, Butters TD, Zhang SW, Zhang LR, Zhang LH, Ye XS. Synthesis of N -substituted ε-hexonolactams as pharmacological chaperones for the treatment of N370S mutant Gaucher disease. Org Biomol Chem , 2012, 10(15): 2923-2927. [37] Schönemann W, Gallienne E, Ikeda-Obatake K, Asano N, Nakagawa S, Kato A, Adachi I, Górecki M, Frelek J, Martin OR. Glucosylceramide mimics: highly potent GCase inhibitors and selective pharmacological chaperones for mutations associated with types 1 and 2 Gaucher disease. Chem Med Chem , 2013, 8(11): 1805-1817. [38] Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NAL, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science , 2013, 341(6148): 1233158. [39] Mahuran DJ, Clarke JTR, Callahan JW. Products and Methods for Gaucher Disease Therpy, 2004. [40] McEachern KA, Nietupski JB, Chuang WL, Armentano D, Johnson J, Hutto E, Grabowski GA, Cheng SH, Marshall J. 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(6): 719-729. [41] Selden NR, Al-Uzri A, Huhn SL, Koch TK, Sikora DM, Nguyen-Driver MD, Guillaume DJ, Koh JL, Gultekin SH, Anderson JC, Vogel H, Sutcliffe TL, Jacobs Y, Steiner RD. Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. J Neurosurg Pediatr , 2013, 11(6): 643-652. [42] Enquist IB, Nilsson E, Ooka A, Månsson JE, Olsson K, Ehinger M, Brady RO, Richter J, Karlsson S. Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci USA , 2006, 103(37): 13819-13824. [43] Tiscornia G, Vivas EL, Matalonga L, Berniakovich I, Barragán Monasterio M, Eguizábal C, Gort L, González F, Ortiz Mellet C, García Fernández JM, Ribes A, Veiga A, Izpisua Belmonte JC. Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. Hum Mol Genet , 2013, 22(4): 633-645. |