Article
Lysosomal dysfunction and early glial activation are involved in the pathogenesis of spinocerebellar ataxia type 21 caused by mutant transmembrane protein 240.
Neurobiology of disease - 1 Dec 2018
Seki Takahiro, Sato Masahiro, Kibe Yuki, Ohta Tomoko, Oshima Mutsumi, Konno Ayumu, Hirai Hirokazu, Kurauchi Yuki, Hisatsune Akinori, Katsuki Hiroshi
Abstract excerpt
Spinocerebellar ataxia type 21 (SCA21) is caused by missense or nonsense mutations of the transmembrane protein 240 (TMEM240). Molecular mechanisms of SCA21 pathogenesis remain unknown because the functions of TMEM240 have not been elucidated. We aimed to reveal the molecular pathogenesis of SCA21 using cell and mouse models that overexpressed the wild-type and SCA21 mutant TMEM240. In HeLa cells, overexpressed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.