- About this Journal ·
- Abstracting and Indexing ·
- Advance Access ·
- Aims and Scope ·
- Annual Issues ·
- Article Processing Charges ·
- Articles in Press ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
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.
- O Neudorfer, N Giladi, D Elstein, et al., “Occurrence of Parkinson's syndrome in type I Gaucher disease,” QJM - Monthly Journal of the Association of Physicians, vol. 89, no. 9, pp. 691–694, 1996.
- M Machaczka, M Rucinska, A B Skotnicki, and W Jurczak, “Parkinson's syndrome preceding clinical manifestation of Gaucher's disease,” American Journal of Hematology, vol. 61, no. 3, pp. 216–217, 1999.
- N Tayebi, M Callahan, V Madike, et al., “Gaucher disease and parkinsonism: a phenotypic and genotypic characterization,” Molecular Genetics and Metabolism, vol. 73, no. 4, pp. 313–321, 2001.
- N Tayebi, J Walker, B Stubblefield, et al., “Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?” Molecular Genetics and Metabolism, vol. 79, no. 2, pp. 104–109, 2003.
- B Bembi, S Z Marsala, E Sidransky, et al., “Gaucher's disease with Parkinson's disease: clinical and pathological aspects,” Neurology, vol. 61, no. 1, pp. 99–101, 2003.
- J Várkonyi, H Rosenbaum, N Baumann, et al., “Gaucher disease associated with parkinsonism: four further case reports,” American Journal of Medical Genetics, vol. 116 A, no. 4, pp. 348–351, 2003.
- E Beutler and G A Grabowski, “Gaucher disease,” in The Metabolic and Molecular Bases of Inherited Disease, C R Scriver, A L Beaudet, D Valle, et al., Eds., pp. 3635–3668, McGraw-Hill, New York, NY, 2001.
- B QMJ Banker, The Cerebral Pathology of Infantile Gaucher Disease, Academic Press, New York, NY, 1962.
- E M Kaye, M D Ullman, E R Wilson, and J A Barranger, “Type 2 and type 3 Gaucher disease: a morphological and biochemical study,” Annals of Neurology, vol. 20, no. 2, pp. 223–230, 1986.
- K Wong, E Sidransky, A Verma, et al., “Neuropathology provides clues to the pathophysiology of Gaucher disease,” Molecular Genetics and Metabolism, vol. 82, no. 3, pp. 192–207, 2004.
- A Lwin, E Orvisky, O Goker-Alpan, M E LaMarca, and E Sidransky, “Glucocerebrosidase mutations in subjects with parkinsonism,” Molecular Genetics and Metabolism, vol. 81, no. 1, pp. 70–73, 2004.
- M J Eblan, J M Walker, E Sidransky, et al., “The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews,” New England Journal of Medicine, vol. 352, no. 7, pp. 728–731, 2005, author reply 728–731.
- E Sidransky, “Gaucher disease: complexity in a “simple” disorder,” Molecular Genetics and Metabolism, vol. 83, no. 1-2, pp. 6–15, 2004.
- J Aharon-Peretz, H Rosenbaum, and R Gershoni-Baruch, “Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews,” New England Journal of Medicine, vol. 351, no. 19, pp. 1972–1977, 2004.
- L N Clark, A Nicolai, S Afridi, et al., “Pilot association study of the -glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity,” Movement Disorders, vol. 20, no. 1, pp. 100–103, 2005.
- C Sato, A Morgan, A E Lang, et al., “Analysis of the glucocerebrosidase gene in Parkinson's disease,” Movement Disorders, vol. 20, no. 3, pp. 367–370, 2005.
- M J Eblan, J Nguyen, S G Ziegler, et al., “Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela,” Movement Disorders, vol. 21, no. 2, pp. 282–283, 2006.
- J Aharon-Peretz, S Badarny, H Rosenbaum, and R Gershoni-Baruch, “Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation,” Neurology, vol. 65, no. 9, pp. 1460–1461, 2005.
- M J Eblan, “Glucocerebrosidase mutations in brain samples from subjects with parkinsonism,” Molecular Genetics and Metabolism, vol. 3, no. 84, pp. 217–218, 2005.
- O Goker-Alpan, R Schiffmann, M E LaMarca, et al., “Parkinsonism among Gaucher disease carriers,” Journal of Medical Genetics, vol. 41, no. 12, pp. 937–940, 2004.
- J Q Trojanowski, M Goedert, T Iwatsubo, and V M-Y Lee, “Fatal attractions: abnormal protein aggregation and neuron death in Parkinson's disease and Lewy body dementia,” Cell Death and Differentiation, vol. 5, no. 10, pp. 832–837, 1998.
- V N Uversky, E M Cooper, K S Bower, J Li, and A L Fink, “Accelerated -synuclein fibrillation in crowded milieu,” FEBS Letters, vol. 515, no. 1–3, pp. 99–103, 2002.
- T Ishizawa, P Mattila, P Davies, D Wang, and D W Dickson, “Colocalization of tau and alpha-synuclein epitopes in Lewy bodies,” Journal of Neuropathology and Experimental Neurology, vol. 62, no. 4, pp. 389–397, 2003.
- M H Polymeropoulos, C Lavedan, E Leroy, et al., “Mutation in the alpha-synuclein gene identified in families with Parkinson's disease,” Science, vol. 276, no. 5321, pp. 2045–2047, 1997.
- A B Singleton, M Farrer, J Johnson, et al., “-synuclein locus triplication causes Parkinson's disease,” Science, vol. 302, no. 5646, p. 841, 2003.
- H A Lashuel, B M Petre, J Wall, et al., “-synuclein, especially the Parkinson's disease-associated mutants, forms pore-like annular and tubular protofibrils,” Journal of Molecular Biology, vol. 322, no. 5, pp. 1089–1102, 2002.
- M J Volles and P T Jr Lansbury, “Vesicle permeabilization by protofibrillar -synuclein is sensitive to Parkinson's disease-linked mutations and occurs by a pore-like mechanism,” Biochemistry, vol. 41, no. 14, pp. 4595–4602, 2002.
- A M Cuervo, L Stefanis, R Fredenburg, P T Lansbury, and D Sulzer, “Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy,” Science, vol. 305, no. 5688, pp. 1292–1295, 2004.
- L Petrucelli, C O'Farrell, P J Lockhart, et al., “Parkin protects against the toxicity associated with mutant -synuclein: proteasome dysfunction selectively affects catecholaminergic neurons,” Neuron, vol. 36, no. 6, pp. 1007–1019, 2002.
- H J Rideout, P Dietrich, Q Wang, W T Dauer, and L Stefanis, “-synuclein is required for the fibrillar nature of ubiquitinated inclusions induced by proteasomal inhibition in primary neurons,” Journal of Biological Chemistry, vol. 279, no. 45, pp. 46915–46920, 2004.
- M Zhu, J Li, and A L Fink, “The association of -synuclein with membranes affects bilayer structure, stability, and fibril formation,” Journal of Biological Chemistry, vol. 278, no. 41, pp. 40186–40197, 2003.
- N B Cole, D D Murphy, T Grider, S Rueter, D Brasaemle, and R L Nussbaum, “Lipid droplet binding and oligomerization properties of the Parkinson's disease protein -synuclein,” Journal of Biological Chemistry, vol. 277, no. 8, pp. 6344–6352, 2002.
- M G Schlossmacher, V Cullen, and J Muthing, “The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews,” New England Journal of Medicine, vol. 352, no. 7, pp. 728–731, 2005, author reply 728–731.
- J Charrow, H C Andersson, P Kaplan, et al., “The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease,” Archives of Internal Medicine, vol. 160, no. 18, pp. 2835–2843, 2000.
- R Mahadeva, W-S W Chang, T R Dafforn, et al., “Heteropolymerization of S, I, and Z -antitrypsin and liver cirrhosis,” Journal of Clinical Investigation, vol. 103, no. 7, pp. 999–1006, 1999.
- D Gaudet, S Arsenault, L Pérusse, et al., “Glycerol a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait,” American Journal of Human Genetics, vol. 66, no. 5, pp. 1558–1568, 2000.
- L AJ Kluijtmans and A S Whitehead, “Methylenetetrahydrofolate reductase genotypes and predisposition to atherothrombotic disease: evidence that all three MTHFR C677T genotypes confer different levels of risk,” European Heart Journal, vol. 22, no. 4, pp. 294–299, 2001.
- P G Noone, Z Zhou, L M Silverman, P S Jowell, M R Knowles, and J A Cohn, “Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations,” Gastroenterology, vol. 121, no. 6, pp. 1310–1319, 2001.