Φορτώνει......
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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
|---|---|
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society for Biochemistry and Molecular Biology
2012
|
| Θέματα: | |
| Διαθέσιμο Online: | 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 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|