Genetic SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in Purkinje cells
Mariko Okubo, Megumu Ogawa, Nobuyuki Eura, Yukiko Inoue, Ken‐ichi Dewa, Tomohiro Owa, Satoshi Miyashita, Terumi Murakami, Hisayoshi Nakamura, Shinichiro Hayashi, Ikuya Nonaka, Katsuhisa Ogata, Mikio Hoshino, Takayoshi Inoue, Ichizo Nishino, S. Noguchi
The paper identifies SNUPN variants causing spinocerebellar atrophy by disrupting splicing in Purkinje cells through impaired U1 snRNP nuclear transport.
medRxiv · Jul 11, 2024 · PreprintGenetic & Genomic Medicine