Mutational analysis of the feline CLN3 gene and an ultrastructural evaluation of lysosomal storage materials in a cat with neuronal ceroid lipofuscinosis: an investigation into the molecular basis of the disease.

@article{Furusawa2012MutationalAO,
  title={Mutational analysis of the feline CLN3 gene and an ultrastructural evaluation of lysosomal storage materials in a cat with neuronal ceroid lipofuscinosis: an investigation into the molecular basis of the disease.},
  author={Yuki Furusawa and Keijiro Mizukami and Akira Yabuki and Mitsuru Kuwamura and Hun Soo Chang and M. A. Hossain and Mohammad Mahbubur Rahman and Mohammad Mejbah Uddin and Sawane Mitani and Osamu Yamato},
  journal={Veterinary journal},
  year={2012},
  volume={194 3},
  pages={425-8}
}
Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disease caused by a number of different genes. A mutational analysis of the feline CLN3 gene was performed in a cat with NCL that had vacuolated lymphocytes, which is a feature of human NCL caused by defects of the CLN3 gene. To determine the candidate gene(s) responsible for this case, NCL-specific ultrastructures of storage materials were analysed. A sequence analysis indicated that the CLN3 gene was not likely to be responsible for… CONTINUE READING

From This Paper

Topics from this paper.

References

Publications referenced by this paper.
Showing 1-10 of 10 references

Morphological diagnostic and pathological considerations

  • G. Anderson, M. Elleder, H. H. Goebel, B. D. Lake
  • 2011
Highly Influential
9 Excerpts

Canine ceroid-ipofuscinoses: A review and classification

  • R. D. Jolly, D. N. Palmer, +7 authors R. C. Riis
  • Journal of Small Animal Practice
  • 1994
Highly Influential
6 Excerpts

NCL Resource – A Gateway for Batten Disease

  • S. E. Mole
  • <http:// www.ucl.ac.uk/ncl/index.shtml> (accessed
  • 2012
1 Excerpt

Similar Papers

Loading similar papers…