C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.

@article{Howes2012CterminalMD,
  title={C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sj{\"o}gren syndrome.},
  author={Jennifer Howes and Yuichiro Shimizu and Matthias J Feige and Linda M Hendershot},
  journal={The Journal of biological chemistry},
  year={2012},
  volume={287 11},
  pages={8552-60}
}
Marinesco-Sjögren syndrome (MSS) is an autosomal recessive, neurodegenerative, multisystem disorder characterized by severe phenotypes developing in infancy. Recently, mutations in the endoplasmic reticulum (ER)-associated co-chaperone SIL1/BAP were identified to be the major cause of MSS. SIL1 acts as a nucleotide exchange factor for BiP, the ER Hsp70 orthologue, which plays an essential role in the folding and assembly of nascent polypeptide chains in the ER. SIL1 facilitates the release of… CONTINUE READING

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Molecular Cloning, 3rd Ed

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