A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation

oleh: Yoshifumi Sonobe, Jihad Aburas, Gopinath Krishnan, Andrew C. Fleming, Ghanashyam Ghadge, Priota Islam, Eleanor C. Warren, Yuanzheng Gu, Mark W. Kankel, André E. X. Brown, Evangelos Kiskinis, Tania F. Gendron, Fen-Biao Gao, Raymond P. Roos, Paschalis Kratsios

Format: Article
Diterbitkan: Nature Portfolio 2021-10-01

Deskripsi

A hexanucleotide repeat expansion of C9orf72 is translated to dipeptide repeat proteins in amyotrophic lateral sclerosis and frontotemporal dementia patients. Here the authors generate a C. elegans model of C9orf72-mediated ALS/FTD and show that translation initiation factor eIF2D regulates the dipeptide repeat protein expression.