Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree

Conclusion RNF13 was identified as a novel causative gene of recessively inherited ALS. The gene affects protein homeostasis, which is one of most important components of the pathology of neurodegeneration. The contribution of RNF13 to the aetiology of another neurodegenerative disease is discussed.

http://jmg.bmj.com/cgi/content/short/60/3/301?rss=1

Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Khani, M., Nafissi, S., Shamshiri, H., Moazzeni, H., Taheri, H., Elahi, E. Tags: Novel disease loci Source Type: research