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Human Molecular Genetics Advance Access originally published online on November 21, 2008
Human Molecular Genetics 2009 18(4):667-678; doi:10.1093/hmg/ddn396
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© 2008 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways

Richard I. Tuxworth, Valérie Vivancos, Megan B. O'Hare and Guy Tear*

MRC Centre for Developmental Neurobiology, New Hunt's House, Guy's Hospital Campus, King’s College London, London SE1 1UL, UK

* To whom correspondence should be addressed. Tel: +44 2078486539; Fax: +44 2078486550; E-mail: guy.tear{at}kcl.ac.uk

Received September 26, 2008; Accepted November 19, 2008

Mutations in the gene CLN3 are responsible for the neurodegenerative disorder juvenile neuronal ceroid lipofuscinosis or Batten disease. CLN3 encodes a multi-spanning and hydrophobic transmembrane protein whose function is unclear. As a consequence, the cell biology that underlies the pathology of the disease is not well understood. We have developed a genetic gain-of-function system in Drosophila to identify functional pathways and interactions for CLN3. We have identified previously unknown interactions between CLN3 and the Notch and Jun N-terminal kinase signalling pathways and have uncovered a potential role for the RNA splicing and localization machinery in regulating CLN3 function.


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