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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: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Biochemistry and Molecular Biology
2012
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| 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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