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Volume 2012 (2012), Article ID 508308, 4 pages
UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family
1Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Faculty of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan
2Genomic Information Analysis Unit, Advanced Molecular Epidemiology Research Institute, Faculty of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan
3Molecular Neuroscience Research Center, Shiga University of Medical Science, Otsu 520-2192, Japan
Received 6 July 2012; Accepted 9 August 2012
Academic Editors: C.-Y. Hsu, D. Mathieu, and G. Meco
Copyright © 2012 Takeo Kato 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.
- E. Uyama, Y. H. Fu, and L. J. Ptácek, “Familial adult myoclonic epilepsy (FAME),” Advances in Neurology, vol. 95, pp. 281–288, 2005.
- M. Mikami, T. Yasuda, A. Terao et al., “Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1,” American Journal of Human Genetics, vol. 65, no. 3, pp. 745–751, 1999.
- F. A. De Falco, P. Striano, A. De Falco et al., “Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME,” Neurology, vol. 60, no. 8, pp. 1381–1385, 2003.
- P. Striano, R. Chifari, S. Striano et al., “A new benign adult familial myoclonus epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2,” Epilepsia, vol. 45, no. 2, pp. 190–192, 2004.
- F. Madia, P. Striano, C. Di Bonaventura et al., “Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families,” Neurogenetics, vol. 9, no. 2, pp. 139–142, 2008.
- C. Saint-Martin, D. Bouteiller, G. Stevanin et al., “Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes,” Neurogenetics, vol. 9, no. 1, pp. 69–71, 2008.
- C. Depienne, E. Magnin, D. Bouteiller et al., “Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p,” Neurology, vol. 74, no. 24, pp. 2000–2003, 2010.
- M. J. Callaghan, A. J. Russell, E. Woollatt, G. R. Sutherland, R. L. Sutherland, and C. K. W. Watts, “Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs,” Oncogene, vol. 17, no. 26, pp. 3479–3491, 1998.
- C. M. Lill and L. Bertram, “Towards unveiling the genetics of neurodegenerative diseases,” Seminars in Neurology, vol. 31, no. 5, pp. 531–541, 2011.
- E. Mansfield, E. Hersperger, J. Biggs, and A. Shearn, “Genetic and molecular analysis of hyperplastic discs, a gene whose product is required for regulation of cell proliferation in Drosophila melanogaster imaginal discs and germ cells,” Developmental Biology, vol. 165, no. 2, pp. 507–526, 1994.
- Y. Honda, M. Tojo, K. Matsuzaki et al., “Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response,” Journal of Biological Chemistry, vol. 277, no. 5, pp. 3599–3605, 2002.
- N. R. Jana, “Protein homeostasis and aging: role of ubiquitin protein ligase,” Neurochemistry International, vol. 60, no. 5, pp. 443–447, 2012.
- T. Matsuura, J. S. Sutcliffe, P. Fang et al., “De novo truncating mutations in E6-Ap ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome,” Nature Genetics, vol. 15, no. 1, pp. 74–77, 1997.
- H. Shimura, N. Hattori, S. I. Kubo et al., “Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase,” Nature Genetics, vol. 25, no. 3, pp. 302–305, 2000.