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C-terminal Mutations Destabilize SIL1/BAP and Can Cause Marinesco-Sjögren Syndrome

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...

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Hlavní autoři: Howes, Jennifer, Shimizu, Yuichiro, Feige, Matthias J., Hendershot, Linda M.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3318681/
https://ncbi.nlm.nih.gov/pubmed/22219183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.333286
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