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C9orf 72 interacts with coilin and influences Cajal body dynamics and splicing
Published on Jul 21, 2017990 Views
Rationale & Hypothesis: The GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the leading cause of amyotrophic lateral sclerosis (ALS). Although the precise disease mechanisms are uncl
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Chapter list
C9orf72 interacts with coilin and influences Cajal body dynamics and splicing00:00
Splicing is defective in C9ALS00:19
C9orf72 protein function01:05
C9orf72 protein localises to the nucleus01:34
Using a reporter assay to investigate splicing02:27
C9orf72 knockdown decreases splicing03:33
C9orf72 interacts with coilin04:21
The role of Cajal bodies05:03
In Vitro GST-binding assay shows a direct interaction between C9orf72 and coilin05:42
Co-IP confirms the C9orf72-coilin interaction in cells06:25
Proximity Ligation Assay06:59
PLA confirmation of the C9orf72-coilin interaction08:00
PLA further confirms the interaction between C9orf72 and coilin08:17
C9orf72 knockdown increases Cajal bodies08:32
Cajal bodies are increased in C9ALS patient iAstrocytes09:15
Conclusions09:54
Acknowledgements10:19