Global ETD Search
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Showing 1 to 2 of 2 for “"Sil1"”.
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The Role of BiP Nucleotide Exchange Factor Sil1 in Immunoglobulin Biosynthesis
… identified a mammalian BiP associated protein, Sil1, with nucleotide exchange activity. In 2005, Sil1 became the first molecular cochaperone known to cause disease upon discovery of mutations that lead to Marinesco-Sjögren Syndrome (MSS), a debilitating recessive disease characterized by severe …
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The Role of BiP Co-chaperone SIL1 in Marinesco-Sjögren Syndrome Pathogenesis
… MSS has been attributed to mutations in the SIL1 gene, which encodes a nucleotide exchange factor for the endoplasmicreticulum- resident Hsp70 chaperone, BiP. To date, there are 46 MSS-associated mutations that have been reported in SIL1, which occur throughout this gene and are predicted to …