Genomes and Genes
Gene Symbol: RGD1359108
Description: similar to RIKEN cDNA 3110043O21
Alias: guanine nucleotide exchange C9orf72 homolog, protein C9orf72 homolog
- Sullivan P, Zhou X, Robins A, Paushter D, Kim D, Smolka M, et al. The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. Acta Neuropathol Commun. 2016;4:51 pubmed publisher..In summary, our study elucidates potential physiological functions of C9orf72 and disease mechanisms of ALS/FTLD. ..
- Amick J, Roczniak Ferguson A, Ferguson S. C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling. Mol Biol Cell. 2016;27:3040-3051 pubmed..Collectively these results identify strong physical and functional interactions between C9orf72 and SMCR8 and support a lysosomal site of action for this protein complex. ..
- Sivadasan R, Hornburg D, Drepper C, Frank N, Jablonka S, Hansel A, et al. C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons. Nat Neurosci. 2016;19:1610-1618 pubmed publisher..This results in reduced axonal actin dynamics in C9ORF72-depleted motor neurons. Dominant negative Arf6 rescues this defect, suggesting that C9ORF72 acts as a modulator of small GTPases in a pathway that regulates axonal actin dynamics. ..
- Ugolino J, Ji Y, Conchina K, Chu J, Nirujogi R, Pandey A, et al. Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling. PLoS Genet. 2016;12:e1006443 pubmed publisher..These results demonstrate that the C9orf72-SMCR8 protein complex functions in the regulation of metabolism and provide evidence that loss of C9orf72 function may contribute to the pathogenesis of relevant diseases. ..