Tuxworth, R.I., Vivancos, V., O'Hare, M.B., Tear, G. (2009). Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. Hum. Mol. Genet. 18(4): 667--678.
FlyBase ID
FBrf0206987
Publication Type
Research paper
Abstract
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.
