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PMID:19028667

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Citation

Tuxworth, RI, Vivancos, V, O'Hare, MB and Tear, G (2009) Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. Hum. Mol. Genet. 18:667-78

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.

Links

PubMed PMC2638826 Online version:10.1093/hmg/ddn396

Keywords

Animals; Cell Line; Drosophila/genetics; Drosophila/metabolism; Drosophila Proteins/genetics; Drosophila Proteins/metabolism; Eye/metabolism; Gene Expression; Humans; MAP Kinase Kinase 4/genetics; MAP Kinase Kinase 4/metabolism; Membrane Proteins/genetics; Membrane Proteins/metabolism; Neuronal Ceroid-Lipofuscinoses/genetics; Neuronal Ceroid-Lipofuscinoses/metabolism; Protein Binding; Protein Transport; RNA-Binding Proteins/genetics; RNA-Binding Proteins/metabolism; Receptors, Notch/genetics; Receptors, Notch/metabolism; Signal Transduction

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

DROME:Q8SXL8

located_in

GO:0005764: lysosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

DROME:Q8SXL8

located_in

GO:0005770: late endosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

DROME:Q8SXL8

located_in

GO:0031982: vesicle

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

DROME:Q8SXL8

involved_in

GO:0046328: regulation of JNK cascade

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

DROME:Q9VVL0

located_in

GO:0005764: lysosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

DROME:Q9VVL0

located_in

GO:0005770: late endosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

DROME:Q9VVL0

located_in

GO:0031982: vesicle

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

DROME:Q9VVL0

involved_in

GO:0046328: regulation of JNK cascade

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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