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Journal of Biomedicine and Biotechnology
Volume 2006 (2006), Article ID 78549, 6 pages
Gaucher Disease and the Synucleinopathies
Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA
Received 12 December 2005; Revised 5 March 2006; Accepted 15 March 2006
Copyright © 2006 Kathleen S. Hruska et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Citations to this Article [33 citations]
The following is the list of published articles that have cited the current article.
- Michael R Douglas, Alistair J Lewthwaite, and David J Nicholl, “Genetics of Parkinson’s disease and parkinsonism,” Expert Review of Neurotherapeutics, vol. 7, no. 6, pp. 657–666, 2007.
- Gan-Or, Giladi, Rozovski, Shifrin, Rosner, Gurevich, Bar-Shira, and Orr-Urtreger, “Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset,” Neurology, vol. 70, no. 24, pp. 2277–2283, 2008.
- T. M. Cox, J. M. F. G. Aerts, N. Belmatoug, M. D. Cappellini, S. vom Dahl, J. Goldblatt, G. A. Grabowski, C. E. M. Hollak, P. Hwu, M. Maas, A. M. Martins, P. K. Mistry, G. M. Pastores, A. Tylki-Szymanska, J. Yee, and N. Weinreb, “Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring,” Journal Of Inherited Metabolic Disease, vol. 31, no. 3, pp. 319–336, 2008.
- Serena Rosner, Nir Giladi, and Avi Orr-Urtreger, “Advances in the genetics of Parkinson's disease,” Acta Pharmacologica Sinica, vol. 29, no. 1, pp. 21–34, 2008.
- Ruben Fernandez-Santiago, Sabine Hoenig, Peter Lichtner, Anne-Dorte Sperfeld, Manu Sharma, Daniela Berg, Oliver Weichenrieder, Thomas Illig, Katharina Eger, Thomas Meyer, Johanna Anneser, Christoph Muench, Stephan Zierz, Thomas Gasser, and Albert Ludolph, “Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis,” Journal Of Neurology, vol. 256, no. 8, pp. 1337–1342, 2009.
- Matthew J. Farrer, Lindsey N. Williams, Avi A. Algom, Jennifer Kachergus, Mary M. Hulihan, Owen A. Ross, Alex Rajput, Spiridon Papapetropoulos, Deborah C. Mash, and Dennis W. Dickson, “Glucosidase-beta variations and Lewy body disorders,” Parkinsonism & Related Disorders, vol. 15, no. 6, pp. 414–416, 2009.
- Parnetti, Balducci, Pierguidi, De Carlo, Peducci, D'Amore, Padiglioni, Mastrocola, Persichetti, Paciotti, Bellomo, Tambasco, Rossi, Beccari, and Calabresi, “Cerebrospinal fluid β-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies,” Neurobiology of Disease, vol. 34, no. 3, pp. 484–486, 2009.
- James B. Leverenz, Oscar L. Lopez, and Steven T. DeKosky, “The expanding role of genetics in the Lewy body diseases: The glucocerebrosidase gene,” Archives of Neurology, vol. 66, no. 5, pp. 555–556, 2009.
- Jianshe Wei, Masayo Fujita, Masaaki Nakai, Masaaki Waragai, Akio Sekigawa, Shuei Sugama, Takato Takenouchi, Eliezer Masliah, and Makoto Hashimoto, “Protective Role of Endogenous Gangliosides for Lysosomal Pathology in a Cellular Model of Synucleinopathies,” The American Journal of Pathology, vol. 174, no. 5, pp. 1891–1909, 2009.
- Tamar H. Taddei, Katherine A. Kacena, Mei Yang, Ruhua Yang, Advitya Malhotra, Michael Boxer, Kirk A. Aleck, Gadi Rennert, Gregory M. Pastores, and Pramod K. Mistry, “The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients,” American Journal of Hematology, vol. 84, no. 4, pp. 208–214, 2009.
- Mariana P. Socal, Hugo Bock, Kristiane Michelin-Tirelli, Arlete Hilbig, Maria Luiza Saraiva-Pereira, Carlos R. M. Rieder, and Laura B. Jardim, “Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians,” Parkinsonism & Related Disorders, vol. 15, no. 1, pp. 76–78, 2009.
- Kenya Nishioka, Carles Vilariño-Güell, Stephanie A. Cobb, Jennifer M. Kachergus, Owen A. Ross, Christian Wider, Rachel A. Gibson, Faycal Hentati, and Matthew J. Farrer, “Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa,” Neuroscience Letters, vol. 477, no. 2, pp. 57–60, 2010.
- Gilberto Bultron, Katherine Kacena, Daniel Pearson, Michael Boxer, Ruhua Yang, Swati Sathe, Gregory Pastores, and Pramod K. Mistry, “The risk of Parkinson's disease in type 1 Gaucher disease,” Journal of Inherited Metabolic Disease, vol. 33, no. 2, pp. 167–173, 2010.
- P. J. McLean, S. K. Kalia, and L. V. Kalia, “Molecular Chaperones as Rational Drug Targets for Parkinson's Disease Therapeutics,” Cns & Neurological Disorders-Drug Targets, vol. 9, no. 6, pp. 741–753, 2010.
- Adriana Vaz dos Santos, Cristiane Pinheiro Pestana, Karen Rafaella da Silva Diniz, Mário Campos, Cláudia Bueno Abdalla-Carvalho, Ana Lúcia Zuma de Rosso, João Santos Pereira, Denise Hack Nicaretta, William Luciano de Carvalho, Jussara Mendonça dos Santos, Cíntia Barros Santos-Rebouças, and Márcia Mattos Gonçalves Pimentel, “Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease,” Neuroscience Letters, vol. 485, no. 2, pp. 121–124, 2010.
- José Luis Capablo Liesa, Alicia Sáez de Cabezón, Raquel Alarcia Alejos, and José Ramón Ara Callizo, “Características clínicas de las formas neurológicas de la enfermedad de Gaucher,” Medicina Clínica, vol. 137, pp. 6–11, 2011.
- Thai Leong Yap, James M. Gruschus, Arash Velayati, Wendy Westbroek, Ehud Goldin, Nima Moaven, Ellen Sidransky, and Jennifer C. Lee, “alpha-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases,” Journal Of Biological Chemistry, vol. 286, no. 32, pp. 28080–28088, 2011.
- Gilbert J. Ho, Willie Liang, Masaaki Waragai, Kazunari Sekiyama, Eliezer Masliah, and Makoto Hashimoto, “Bridging Molecular Genetics and Biomarkers in Lewy Body and Related Disorders,” International Journal of Alzheimer's Disease, vol. 2011, pp. 1–18, 2011.
- Paige Kaplan, Hagit Baris, Linda Meirleir, Maja Rocco, Amal El-Beshlawy, Martina Huemer, Ana Maria Martins, Ioana Nascu, Marianne Rohrbach, Lynne Steinbach, and Ian J. Cohen, “Revised recommendations for the management of Gaucher disease in children,” European Journal of Pediatrics, vol. 172, no. 4, pp. 447–458, 2012.
- Kurt A. Jellinger, “The role of α-synuclein in neurodegeneration — An update,” Translational Neuroscience, vol. 3, no. 2, pp. 75–122, 2012.
- Shinji Saiki, Shigeto Sato, and Nobutaka Hattori, “Molecular pathogenesis of Parkinson's disease: update,” Journal of Neurology Neurosurgery and Psychiatry, vol. 83, no. 4, pp. 430–436, 2012.
- Tessa N. Campbell, and Francis Y. M. Choy, “Gaucher disease and the synucleinopathies: refining the relationship,” Orphanet Journal of Rare Diseases, vol. 7, 2012.
- Eleanna Kara, John Hardy, and Henry Houlden, “The pallidopyramidal syndromes,” Current Opinion in Neurology, vol. 26, no. 4, pp. 381–394, 2013.
- Michalina Malec-Litwinowicz, Monika Rudzińska, Michał Szubiga, Michał Michalski, Tomasz Tomaszewski, and Andrzej Szczudlik, “Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients,” Neurologia i Neurochirurgia Polska, 2014.
- Frances M. Platt, “Sphingolipid lysosomal storage disorders,” Nature, vol. 510, no. 7503, pp. 68–75, 2014.
- Edward I. Ginns, Sally K-K. Mak, Novie Ko, Juliane Karlgren, Schahram Akbarian, Vivian P. Chou, Yin Guo, Arlene Lim, Steven Samuelsson, Mary L. LaMarca, Jacqueline Vazquez-DeRose, and Amy B. Manning-Bog, “Neuroinflammation and alpha-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction,” Molecular Genetics and Metabolism, vol. 111, no. 2, pp. 152–162, 2014.
- Einat B Vitner, Ayelet Vardi, Timothy M Cox, and Anthony H Futerman, “Emerging therapeutic targets for Gaucher disease,” Expert Opinion on Therapeutic Targets, pp. 1–14, 2014.
- Fabin Han, David A. Grimes, Fang Li, Ting Wang, Zhe Yu, Na Song, Shichao Wu, Lemuel Racacho, and Dennis E. Bulman, “Mutations in the Glucocerebrosidase Gene Are Common in Patients with Parkinson's Disease from Eastern Canada,” International Journal of Neuroscience, pp. 1–19, 2015.
- Hila Zigdon, Alon Savidor, Yishai Levin, Anna Meshcheriakova, Raphael Schiffmann, and Anthony H. Futerman, “Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease,” Plos One, vol. 10, no. 3, 2015.
- Yaqiong Li, Ping Li, Huimin Liang, Zhiquan Zhao, Makoto Hashimoto, and Jianshe Wei, “Gaucher-Associated Parkinsonism,” Cellular and Molecular Neurobiology, 2015.
- Deborah Elstein, Roy Alcalay, and Ari Zimran, “The emergence of Parkinson disease among patients with Gaucher disease,” Best Practice & Research Clinical Endocrinology & Metabolism, vol. 29, no. 2, pp. 249–259, 2015.
- Anne Vital, Sebastien Lepreux, and Claude Vital, “Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum,” Journal of the Peripheral Nervous System, vol. 19, no. 4, pp. 333–342, 2015.
- Gali Maor, Or Cabasso, Olga Krivoruk, Joe Rodriguez, Hermann Steller, Daniel Segal, and Mia Horowitz, “ The contribution of mutant GBA to the development of Parkinson disease in Drosophila ,” Human Molecular Genetics, pp. ddw129, 2016.