• Michael Bond, Sophia-Martha Kleine Holthaus, Imke Tammen, Guy Tear, and Claire Russell.
• MRC Laboratory for Molecular Cell Biology, University College of London, Gower Street, London WC1E 6BT, UK.
• Biochim. Biophys. Acta. 2013 Nov 1;1832(11):1842-65.

AbstractNeuronal ceroid lipofuscinoses are a group of fatal progressive neurodegenerative diseases predominantly affecting children. Identification of mutations that cause neuronal ceroid lipofuscinosis, and subsequent functional and pathological studies of the affected genes, underpins efforts to investigate disease mechanisms and identify and test potential therapeutic strategies. These functional studies and pre-clinical trials necessitate the use of model organisms in addition to cell and tissue culture models as they enable the study of protein function within a complex organ such as the brain and the testing of therapies on a whole organism. To this end, a large number of disease models and genetic tools have been identified or created in a variety of model organisms. In this review, we will discuss the ethical issues associated with experiments using model organisms, the factors underlying the choice of model organism, the disease models and genetic tools available, and the contributions of those disease models and tools to neuronal ceroid lipofuscinosis research. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.Copyright © 2013 Elsevier B.V. All rights reserved.

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