Article
SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.
Brain : a journal of neurology - 5 Mar 2026
Okubo Mariko, Ogawa Megumu, Eura Nobuyuki, Inoue Yukiko U, Dewa Ken-Ichi, Owa Tomoo, Miyashita Satoshi, Murakami Terumi, Nakamura Hisayoshi, Hayashi Shinichiro, Nonaka Ikuya, Ogata Katsuhisa, Hoshino Mikio, Inoue Takayoshi, Nishino Ichizo, Noguchi Satoru
Abstract excerpt
Mutations in the SNUPN gene, which encodes snurportin-1, a nuclear import adaptor for U1 small nuclear ribonucleoproteins (snRNP), have recently been implicated in limb-girdle muscular dystrophy, attributed to disrupted pre-messenger RNA splicing in skeletal muscle. U1 small nuclear ribonucleoproteins play a vital role in pre-messenger RNA splicing, a process essential for transcript fidelity and the regulation...
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