Article
C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.
Molecular biology of the cell - 15 Oct 2016
Amick Joseph, Roczniak-Ferguson Agnes, Ferguson Shawn M
Abstract excerpt
Hexanucleotide expansion in an intron of the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia. However, beyond bioinformatics predictions that suggested structural similarity to folliculin, the Birt-Hogg-Dubé syndrome tumor suppressor, little is known about the normal functions of the C9orf72 protein. To address this problem, we used genome-editing strategies to investigate C9orf72...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
