SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.
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
Dec 20, 2018
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....