Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome.

  title={Targeting the enhanced ER stress response in Marinesco-Sj{\"o}gren syndrome.},
  author={Ayako Kashimada and Setsuko Hasegawa and Takeo Isagai and Tsuyoshi Uchiyama and Muneaki Matsuo and Motoharu Kawai and Masahide Goto and Tomohiro Morio and Yukiko K. Hayashi and Masatoshi Takagi},
  journal={Journal of the neurological sciences},
BACKGROUND AND OBJECTIVE Marinesco-Sjögren syndrome (MSS) is an autosomal recessive infantile-onset disorder characterized by cataracts, cerebellar ataxia, and progressive myopathy caused by mutation of SIL1. In mice, a defect in SIL1 causes endoplasmic reticulum (ER) chaperone dysfunction, leading to unfolded protein accumulation and increased ER stress… CONTINUE READING