Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

@article{Roos2013MyopathyIM,
  title={Myopathy in Marinesco–Sj{\"o}gren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology},
  author={Andreas Roos and Stephan Buchkremer and Laxmikanth Kollipara and Thomas Labisch and Christian Gatz and Manuela Zitzelsberger and Eva Brauers and Kay Wilhelm Nolte and J. M. Schr{\"o}der and Janbernd Kirschner and Christopher Marvin Jesse and Hans Hilmar Goebel and Anand Goswami and Richard Zimmermann and Ren{\'e} Peiman Zahedi and Jan Senderek and Joachim Weis},
  journal={Acta Neuropathologica},
  year={2013},
  volume={127},
  pages={761-777}
}
Marinesco–Sjögren syndrome (MSS) features cerebellar ataxia, mental retardation, cataracts, and progressive vacuolar myopathy with peculiar myonuclear alterations. Most MSS patients carry homozygous or compound heterozygous SIL1 mutations. SIL1 is a nucleotide exchange factor for the endoplasmic reticulum resident chaperone BiP which controls a plethora of essential processes in the endoplasmic reticulum. In this study we made use of the spontaneous Sil1 mouse mutant woozy to explore… CONTINUE READING

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