Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways.
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.
Tuxworth
Richard I
RI
MRC Centre for Developmental Neurobiology, New Hunt's House, Guy's Hospital Campus, King's College London, London, UK.
Vivancos
Valérie
V
O'Hare
Megan B
MB
Tear
Guy
G
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
C538715:CLN3 protein, Drosophila; D029721:Drosophila Proteins; D008565:Membrane Proteins; D016601:RNA-Binding Proteins; D051880:Receptors, Notch; D048670:MAP Kinase Kinase 4