Lysosomal dysfunction and early glial activation are involved in the pathogenesis of spinocerebellar ataxia type 21 caused by mutant transmembrane protein 240

Lysosomal dysfunction and early glial activation are involved in the pathogenesis of spinocerebellar ataxia type 21 caused by mutant transmembrane protein 240

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 u...

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Bibliographic Details
Main Authors: Takahiro Seki, Masahiro Sato, Yuki Kibe, Tomoko Ohta, Mutsumi Oshima, Ayumu Konno, Hirokazu Hirai, Yuki Kurauchi, Akinori Hisatsune, Hiroshi Katsuki
Format: Article
Language:English
Published: Elsevier 2018-12-01
Series:Neurobiology of Disease
Subjects:
Spinocerebellar ataxia type 21
Transmembrane protein 240
Autophagic lysosomal protein degradation
Cerebellar Purkinje cells
Motor dysfunction
Gliosis
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118305199

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http://www.sciencedirect.com/science/article/pii/S0969996118305199

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