SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human

Background: Marinesco-Sjögren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL1 gene resulting in the absence of functional SIL1 protein, a co-chaperone for the major ER chaperone, BiP. As BiP is decisive for proper protein processing, loss of SIL1 results in...

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Bibliographic Details
Main Authors: Vietxuan Phan, Dan Cox, Silvia Cipriani, Sally Spendiff, Stephan Buchkremer, Emily O'Connor, Rita Horvath, Hans Hilmar Goebel, Denisa Hathazi, Hanns Lochmüller, Tatjana Straka, Rüdiger Rudolf, Joachim Weis, Andreas Roos
Format: Article
Language:English
Published: Elsevier 2019-04-01
Series:Neurobiology of Disease
Subjects:
SIL1
Marinesco-Sjögren syndrome
Woozy
PNS pathology
Neuromuscular junction
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118307502

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http://www.sciencedirect.com/science/article/pii/S0969996118307502

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