title: 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.
authors.affiliation: MRC Centre for Developmental Neurobiology, New Hunt's House, Guy's Hospital Campus, King's College London, London, UK.
authors.forename: Richard I
authors.initials: RI
authors.lastname: Tuxworth
authors.forename: Valérie
authors.initials: V
authors.lastname: Vivancos
authors.forename: Megan B
authors.initials: MB
authors.lastname: O'Hare
authors.forename: Guy
authors.initials: G
authors.lastname: Tear
mesh_terms: D000818:Animals; D002460:Cell Line; D004330:Drosophila / Q000235:genetics / Q000378:metabolism*; D029721:Drosophila Proteins / Q000235:genetics / Q000378:metabolism*; D005123:Eye / Q000378:metabolism; D015870:Gene Expression; D006801:Humans; D048670:MAP Kinase Kinase 4 / Q000235:genetics / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000378:metabolism*; D011485:Protein Binding; D021381:Protein Transport; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D051880:Receptors, Notch / Q000235:genetics / Q000378:metabolism*; D015398:Signal Transduction
chemical_list: C538715:CLN3 protein, Drosophila; D029721:Drosophila Proteins; D008565:Membrane Proteins; D016601:RNA-Binding Proteins; D051880:Receptors, Notch; D048670:MAP Kinase Kinase 4