The Neuronal Ceroid Lipofuscinoses: opportunities from model systems
- Faller, K.M., Gutierrez-Quintana, R., Mohammed, A., Rahim, A.A., Tuxworth, R.I., Wager, K., Bond, M.
- Biochimica et biophysica acta. Molecular basis of disease 1852(10 Pt B): 2267-78 (Review)
- Registered Authors
- NCL, fruit fly, large animals, model systems, mouse, nematode, neurodegeneration, neuronal ceroid lipofuscinosis, slime mould, yeast, zebrafish
- MeSH Terms
- 25937302 Full text @ BBA Molecular Basis of Disease
Faller, K.M., Gutierrez-Quintana, R., Mohammed, A., Rahim, A.A., Tuxworth, R.I., Wager, K., Bond, M. (2015) The Neuronal Ceroid Lipofuscinoses: opportunities from model systems. Biochimica et biophysica acta. Molecular basis of disease. 1852(10 Pt B):2267-78.
The neuronal ceroid lipofuscinoses are a group of severe and progressive neurodegenerative disorders, generally with childhood onset. Despite the fact that these diseases remain fatal, significant breakthroughs have been made in our understanding of the genetics that underpin these conditions. This understanding has allowed the development of a broad range of models to study disease processes, and to develop new therapeutic approaches. Such models have contributed significantly to our knowledge of these conditions. In this review we will focus on the advantages of each individual model, describe some of the contributions the models have made to our understanding of the broader disease biology and highlight new techniques and approaches relevant to the study and potential treatment of the neuronal ceroid lipofuscinoses.
Genes / Markers
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Engineered Foreign Genes