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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Cell Line
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Drosophila / genetics
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Drosophila / metabolism*
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Drosophila Proteins / genetics
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Drosophila Proteins / metabolism*
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Eye / metabolism
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Gene Expression
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Humans
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MAP Kinase Kinase 4 / genetics
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MAP Kinase Kinase 4 / metabolism*
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Membrane Proteins / genetics
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Membrane Proteins / metabolism*
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Neuronal Ceroid-Lipofuscinoses / genetics
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Neuronal Ceroid-Lipofuscinoses / metabolism*
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Protein Binding
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Protein Transport
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RNA-Binding Proteins / genetics
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RNA-Binding Proteins / metabolism
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Receptors, Notch / genetics
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Receptors, Notch / metabolism*
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Signal Transduction*
Substances
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CLN3 protein, Drosophila
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Drosophila Proteins
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Membrane Proteins
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RNA-Binding Proteins
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Receptors, Notch
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MAP Kinase Kinase 4