Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48)

Overview of attention for article published in Journal of Biomedical Science, September 2021

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常染色体優性脊髄小脳失調症48型(SCA48) 新規STUB1Frameshift変異の特徴 https://t.co/NTGQsggiin STUB1のヘテロ接合性病的変異は家族性運動失調症のSCA48関与同家族2人のSTUB1に新規ヘテロ接合性Frameshift変異を同定 →神経細胞へtau・α-synuclein蓄積、細胞apoptosis⬆️ SCA48原因にFrameshift変異 https://t.co/VXXo2x2zzS

12 Dec 2023

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