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

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.

SUBMITTER: Tuxworth RI 

PROVIDER: S-EPMC2638826 | biostudies-other | 2009 Feb

REPOSITORIES: biostudies-other