Abstract
New analyses shift the view that some forms of amyotrophic lateral sclerosis and frontotemporal dementia are due to defects in a single RNA-binding protein.
Highlights
Related research article Conlon EG, Fagegaltier D, Agius P, Davis-Porada J, Gregory J, Hubbard I, Kang K, Kim D, Phatnani H, Shneider NA, Manley JL, New York Genome Center A myotrophic lateral sclerosis (ALS) Consortium. 2018
The team hoped to use the splicing defects they identified in the mRNA targets of hnRNP H to create a ‘signature’ that would help them identify which cases are caused by mutations in C9orf72
The samples were split into two groups depending on whether they showed a splicing signature similar to the one present in C9orf72 mutation cases
Summary
Related research article Conlon EG, Fagegaltier D, Agius P, Davis-Porada J, Gregory J, Hubbard I, Kang K, Kim D, Phatnani H, Shneider NA, Manley JL, New York Genome Center ALS Consortium. 2018. This increase in repeat numbers could cause disease in several ways: the repeated segments could, for example, be transcribed into RNA molecules that soak up RNAbinding proteins and prevent these proteins from carrying out their functions (Gitler and Tsuiji, 2016). Researchers have identified RNA-binding proteins that might be disrupted in this way.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
