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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.
Citations to this Article [24 citations]
The following is the list of published articles that have cited the current article.
- Keijiro Mizukami, Hye-Sook Chang, Akira Yabuki, Takuji Kawamichi, Natsuko Kawahara, Daisuke Hayashi, Mohammad A. Hossain, Mohammad M. Rahman, Mohammad M. Uddin, and Osamu Yamato, “Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan,” Journal Of Veterinary Diagnostic Investigation, vol. 23, no. 6, pp. 1131–1139, 2011.
- Eija H. Seppala, Lotta L. E. Koskinen, Christina H. Gullov, Paivi Jokinen, Peter Karlskov-Mortensen, Luciana Bergamasco, Izabella Baranowska Korberg, Sigitas Cizinauskas, Anita M. Oberbauer, Mette Berendt, Merete Fredholm, and Hannes Lohi, “Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs,” Plos One, vol. 7, no. 3, 2012.
- Kari J. Ekenstedt, Edward E. Patterson, and James R. Mickelson, “Canine epilepsy genetics,” Mammalian Genome, vol. 23, no. 1-2, pp. 28–39, 2012.
- Esther E. Biswas-Fiss, Stephanie Affet, Malissa Ha, and Subhasis B. Biswas, “Retinoid Binding Properties of Nucleotide Binding Domain 1 of the Stargardt Disease-associated ATP Binding Cassette (ABC) Transporter, ABCA4,” Journal Of Biological Chemistry, vol. 287, no. 53, pp. 44097–44107, 2012.
- Krystal Weber, “Large Animal Models for Batten Disease: A Review,” Journal of Child Neurology, vol. 28, no. 9, pp. 1123–1127, 2013.
- Kari J. Ekenstedt, and Anita M. Oberbauer, “Inherited Epilepsy in Dogs,” Topics in Companion Animal Medicine, vol. 28, no. 2, pp. 51–58, 2013.
- Jeremy P. Morgan, Helen Magee, Andrew Wong, Tarah Nelson, Bettina Koch, Jonathan D. Cooper, and Jill M. Weimer, “A Murine Model of Variant Late Infantile Ceroid Lipofuscinosis Recapitulates Behavioral and Pathological Phenotypes of Human Disease,” Plos One, vol. 8, no. 11, 2013.
- Rebecca E.H. Whiting, Kristina Narfström, Gang Yao, Jacqueline W. Pearce, Joan R. Coates, Leilani J. Castaner, and Martin L. Katz, “Pupillary Light Reflex Deficits in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis,” Experimental Eye Research, 2013.
- Michael Bond, Sophia-Martha kleine Holthaus, Imke Tammen, Guy Tear, and Claire Russell, “Use of model organisms for the study of neuronal ceroid lipofuscinosis,” Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2013.
- P. Karli, A. Karol, A. Oevermann, C. Droegemueller, D. Gorgas, and D. Henke, “The canine neuronal ceroid-lipofuscinosis: A review,” Schweizer Archiv Fur Tierheilkunde, vol. 156, no. 9, pp. 417–423, 2014.
- Rebecca E. H. Whiting, Kristina Narfstroem, Gang Yao, Jacqueline W. Pearce, Joan R. Coates, Leilani J. Castaner, Cheryl A. Jensen, Brittanie N. Dougherty, Brian R. Vuillemenot, Derek Kennedy, Charles A. O'Neill, and Martin L. Katz, “Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis,” Experimental Eye Research, vol. 125, pp. 164–172, 2014.
- M. D. Chalkley, A. G. Armien, D. H. Gilliam, G. S. Johnson, R. Zeng, A. Wuenschmann, R. C. Kovi, and M. L. Katz, “Characterization of Neuronal Ceroid-Lipofuscinosis in 3 Cats,” Veterinary Pathology, vol. 51, no. 4, pp. 796–804, 2014.
- D.P. O'Brien, and T. Leeb, “DNA Testing in Neurologic Diseases,” Journal of Veterinary Internal Medicine, 2014.
- Juyuan Guo, Gary S. Johnson, Holly A. Brown, Michele L. Provencher, Ronaldo C. da Costa, Tendai Mhlanga-Mutangadura, Jeremy F. Taylor, Robert D. Schnabel, Dennis P. O’Brien, and Martin L. Katz, “A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry,” Molecular Genetics and Metabolism, 2014.
- Rebecca E. H. Whiting, Jacqueline W. Pearce, Leilani J. Castaner, Cheryl A. Jensen, Rebecca J. Katz, Douglas H. Gilliam, and Martin L. Katz, “Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis,” Experimental Eye Research, vol. 134, pp. 123–132, 2015.
- Nicole J. Neverman, Hannah L. Best, Sandra L. Hofmann, and Stephanie M. Hughes, “Experimental Therapies in the Neuronal Ceroid Lipofuscinoses,” Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015.
- D. Gilliam, A. Kolicheski, G.S. Johnson, T. Mhlanga-Mutangadura, J.F. Taylor, Schnabel, and M.L. Katz, “Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5,” Molecular Genetics and Metabolism, 2015.
- Andrea Tipold, Arianna Maiolini, Jasmin Nessler, and Veronika M. Stein, “Epilepsy in dogs and cats,” Kleintierpraxis, vol. 60, no. 4, pp. 198–+, 2015.
- Velia-Isabel Hülsmeyer, Andrea Fischer, Paul J.J. Mandigers, Luisa DeRisio, Mette Berendt, Clare Rusbridge, Sofie F.M. Bhatti, Akos Pakozdy, Edward E. Patterson, Simon Platt, Rowena M.A. Packer, and Holger A. Volk, “International Veterinary Epilepsy Task Force’s current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs,” BMC Veterinary Research, vol. 11, no. 1, 2015.
- Juyuan Guo, Dennis P. O'Brien, Tendai Mhlanga-Mutangadura, Natasha J. Olby, Jeremy F. Taylor, Robert D. Schnabel, Martin L. Katz, and Gary S. Johnson, “A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscin,” Bmc Veterinary Research, vol. 10, 2015.
- A. Kolicheski, G.S. Johnson, D.P. O'Brien, T. Mhlanga-Mutangadura, D. Gilliam, J. Guo, T.D. Anderson-Sieg, R.D. Schnabel, J.F. Taylor, A. Lebowitz, B. Swanson, D. Hicks, Z.E. Niman, F.A. Wininger, M.C. Carpentier, and M.L. Katz, “ Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies ,” Journal of Veterinary Internal Medicine, 2016.
- Akanksha Ashwini, Antonio D'Angelo, Osamu Yamato, Cristina Giordano, Giulia Cagnotti, Tom Harcourt-Brown, Tendai Mhlanga-Mutangadura, Juyuan Guo, Gary S. Johnson, and Martin L. Katz, “Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas,” Molecular Genetics and Metabolism, 2016.
- Mark Lowrie, Claire Bessant, Robert J. Harvey, Andrew Sparkes, and Laurent Garosi, “Audiogenic reflex seizures in cats,” Journal Of Feline Medicine And Surgery, vol. 18, no. 4, pp. 328–336, 2016.
- Kiterie M.E. Faller, Jose Bras, Samuel J. Sharpe, Glenn W. Anderson, Lee Darwent, Celia Kun-Rodrigues, Joseph Alroy, Jacques Penderis, Sara E. Mole, Rodrigo Gutierrez-Quintana, and Rita J. Guerreiro, “The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?,” Journal of Neuroscience Research, 2016.