Theme References

Aflaki, Elma, Daniel K. Borger, Nima Moaven, Barbara K. Stubblefield, Steven A. Rogers, Samarjit Patnaik, Frank J. Schoenen, et al. 2016. “A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in IPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.” Journal of Neuroscience36 (28): 7441–52. https://doi.org/10.1523/JNEUROSCI.0636-16.2016.

Belmatoug, Nadia, Alberto Burlina, Pilar Giraldo, Chris J. Hendriksz, David J. Kuter, Eugen Mengel, and Gregory M. Pastores. 2011. “Gastrointestinal Disturbances and Their Management in Miglustat-Treated Patients.” Journal of Inherited Metabolic Disease34 (5): 991–1001. https://doi.org/10.1007/s10545-011-9368-7.

Brady, Roscoe O., Julian Kanfer, and David Shapiro. 1965. “The Metabolism of Glucocerebrosides I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUE.” Journal of Biological Chemistry240 (1): 39–43.

Dvir, Hay, Michal Harel, Andrew A. McCarthy, Lilly Toker, Israel Silman, Anthony H. Futerman, and Joel L. Sussman. 2003. “X‐ray Structure of Human Acid‐β‐glucosidase, the Defective Enzyme in Gaucher Disease.” EMBO Reports4 (7): 704–9. https://doi.org/10.1038/sj.embor.embor873.

Grabowski, Gregory A., Katherine Kacena, J. Alexander Cole, Carla E. M. Hollak, Lin Zhang, John Yee, Pramod K. Mistry, Ari Zimran, Joel Charrow, and Stephan vom Dahl. 2009. “Dose-Response Relationships for Enzyme Replacement Therapy with Imiglucerase/Alglucerase in Patients with Gaucher Disease Type 1.” Genetics in Medicine: Official Journal of the American College of Medical Genetics11 (2): 92–100. https://doi.org/10.1097/GIM.0b013e31818e2c19.

Hruska, Kathleen S., Mary E. LaMarca, C. Ronald Scott, and Ellen Sidransky. 2008. “Gaucher Disease: Mutation and Polymorphism Spectrum in the Glucocerebrosidase Gene (GBA).” Human Mutation29 (5): 567–83. https://doi.org/10.1002/humu.20676.

Jian, Jinlong, Qing-Yun Tian, Aubryanna Hettinghouse, Shuai Zhao, Helen Liu, Jianlu Wei, Gabriele Grunig, et al. 2016. “Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease.” EBioMedicine13 (October): 212–24. https://doi.org/10.1016/j.ebiom.2016.10.010.

Kitatani, Kazuyuki, Masayuki Wada, David Perry, Toshinori Usui, Ying Sun, Lina M. Obeid, Nobuo Yaegashi, Gregory A. Grabowski, and Yusuf A. Hannun. 2015. “Activation of P38 Mitogen-Activated Protein Kinase in Gaucher’s Disease.” PLoS ONE10 (8). https://doi.org/10.1371/journal.pone.0136633.

Lee, R E. 1968. “The Fine Structure of the Cerebroside Occurring in Gaucher’s Disease.” Proceedings of the National Academy of Sciences of the United States of America61 (2): 484–89.

Lieberman, Raquel L. 2011. “A Guided Tour of the Structural Biology of Gaucher Disease: Acid-β-Glucosidase and Saposin C.” Research article. Enzyme Research. 2011. https://doi.org/10.4061/2011/973231.

McNeill, A., Magalhaes, J., Shen, C., Chau, K.-Y., Hughes, D., Mehta, A., Schapira, A. H. V. (2014). Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain137(5), 1481–1495. http://doi.org/10.1093/brain/awu020

Medrano-Engay, B., P. Irun, J. Gervas-Arruga, M. Andrade-Campos, V. Andreu, P. Alfonso, M. Pocovi, and P. Giraldo. 2014. “Iron Homeostasis and InfIammatory Biomarker Analysis in Patients with Type 1 Gaucher Disease.” Blood Cells, Molecules, and Diseases53 (4): 171–75. https://doi.org/10.1016/j.bcmd.2014.07.007.

Mistry, Pramod K., Grisel Lopez, Raphael Schiffmann, Norman W. Barton, Neal J. Weinreb, and Ellen Sidransky. 2017. “Gaucher Disease: Progress and Ongoing Challenges.” Molecular Genetics and Metabolism, The Lysosome (Feb 2017), 120 (1): 8–21. https://doi.org/10.1016/j.ymgme.2016.11.006.

Offman, Marc N., Marcin Krol, Burkhard Rost, Israel Silman, Sussman, and Anthony H. Futerman. 2011. “Comparison of a Molecular Dynamics Model with the X-Ray Structure of the N370S Acid-β-Glucosidase Mutant That Causes Gaucher Disease.” Protein Engineering, Design and Selection24 (10): 773–75. https://doi.org/10.1093/protein/gzr032.

Rockenstein, Edward, Jennifer Clarke, Catherine Viel, Nicholas Panarello, Christopher M. Treleaven, Changyoun Kim, Brian Spencer, et al. 2016. “Glucocerebrosidase Modulates Cognitive and Motor Activities in Murine Models of Parkinson’s Disease.” Human Molecular Genetics25 (13): 2645–60. https://doi.org/10.1093/hmg/ddw124.

Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Berger, M. G. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International Journal of Molecular Sciences18(2), 441. http://doi.org/10.3390/ijms18020441

Taddei, Tamar H., James Dziura, Shu Chen, Ruhua Yang, Hideyuki Hyogo, Cameron Sullards, David E. Cohen, Gregory Pastores, and Pramod K. Mistry. 2010. “High Incidence of Cholesterol Gallstone Disease in Type 1 Gaucher Disease: Characterizing the Biliary Phenotype of Type 1 Gaucher Disease.” Journal of Inherited Metabolic Disease33 (3): 291–300. https://doi.org/10.1007/s10545-010-9070-1.

Tamargo, Rafael J., Arash Velayati, Ehud Goldin, and Ellen Sidransky. 2012. “The Role of Saposin C in Gaucher Disease.” Molecular Genetics and Metabolism106 (3): 257–63. https://doi.org/10.1016/j.ymgme.2012.04.024.

 

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