- About this Journal ·
- Abstracting and Indexing ·
- Aims and Scope ·
- Annual Issues ·
- Article Processing Charges ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Recently Accepted Articles ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
Journal of Biomedicine and Biotechnology
Volume 2011 (2011), Article ID 198042, 6 pages
A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis
1Mason Eye Institute, School of Medicine, College of Veterinary Medicine, University of Missouri, One Hospital Drive, Columbia, MO 65212, USA
2Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA
3Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA
Received 10 August 2010; Accepted 22 October 2010
Academic Editor: Monica Fedele
Copyright © 2011 Martin L. Katz 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.
- R. D. Jolly and D. N. Palmer, “The neuronal ceroid-lipofuscinoses (Batten disease): comparative aspects,” Neuropathology and Applied Neurobiology, vol. 21, no. 1, pp. 50–60, 1995.
- M. L. Katz, H. Shibuya, and G. S. Johnson, “Animal models for the ceroid lipofuscinoses,” Advances in Genetics, vol. 45, pp. 183–203, 2001.
- M. L. Katz, G. S. Johnson, and C. Drögemüller, “Canine neuronal ceroid lipofuscinoses,” in The Neuronal Ceroid Lipofuscinoses (Batten Disease), S. E. Mole, B. D. Lake, and H. H. Goebel, Eds., IOS Press, London, UK, In Press.
- D. P. O'Brien and M. L. Katz, “Neuronal ceroid lipofuscinosis in 3 australian shepherd littermates,” Journal of Veterinary Internal Medicine, vol. 22, no. 2, pp. 472–475, 2008.
- M. L. Katz, S. Khan, T. Awano, S. A. Shahid, A. N. Siakotos, and G. S. Johnson, “A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis,” Biochemical and Biophysical Research Communications, vol. 327, no. 2, pp. 541–547, 2005.
- K. D. Wendt, C. A. Jensen, R. Tindall, and M. L. Katz, “Comparison of conventional and microwave-assisted processing of mouse retinas for transmission electron microscopy,” Journal of Microscopy, vol. 214, no. 1, pp. 80–88, 2004.
- T. Awano, M. L. Katz, and M. L. Katz, “A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis,” Molecular Genetics and Metabolism, vol. 89, no. 3, pp. 254–260, 2006.
- N. A. Hall, R. D. Jolly, D. N. Palmer, B. D. Lake, and A. D. Patrick, “Analysis of dolichyl pyrophosphoryl oligosaccharides in purified storage cytosomes from ovine ceroid-lipofuscinosis,” Biochimica et Biophysica Acta, vol. 993, no. 2-3, pp. 245–251, 1989.
- R. B. Wheeler, J. D. Sharp, R. A. Schultz, J. M. Joslin, R. E. Williams, and S. E. Mole, “The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein,” American Journal of Human Genetics, vol. 70, no. 2, pp. 537–542, 2002.
- A. Kurze, G. Galliciotti, C. Heine, S. E. Mole, A. Quitsch, and T. Braulke, “Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane Protein CLN6,” Human Mutation, vol. 31, no. 2, pp. 1163–1174, 2010.
- M. B. Shapiro and P. Senapathy, “RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression,” Nucleic Acids Research, vol. 15, no. 17, pp. 7155–7174, 1987.
- M. F. Broom, C. Zhou, J. E. Broom, K. J. Barwell, R. D. Jolly, and D. F. Hill, “Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6,” Journal of Medical Genetics, vol. 35, no. 9, pp. 717–721, 1998.
- I. Tammen, P. J. Houweling, and P. J. Houweling, “A missense mutation (c. ) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA,” Biochimica et Biophysica Acta, vol. 1762, no. 10, pp. 898–905, 2006.
- D. N. Sanders, F. H. Farias, and F. H. Farias, “A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund,” Molecular Genetics and Metabolism, vol. 100, no. 4, pp. 349–356, 2010.
- E. Siintola, A. E. Lehesjoki, and S. E. Mole, “Molecular genetics of the NCLs—status and perspectives,” Biochimica et Biophysica Acta, vol. 1762, no. 10, pp. 857–864, 2006.
- K. E. Wisniewski, E. Kida, A. A. Golabek, W. Kaczmarski, F. Connell, and N. Zhong, “Neuronal ceroid lipofuscinoses: classification and diagnosis,” Advances in Genetics, vol. 45, pp. 1–34, 2001.