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Showing 1 to 2 of 2 for “"Marinesco-Sjögren syndrome"”.
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The Role of BiP Co-chaperone SIL1 in Marinesco-Sjögren Syndrome Pathogenesis
<p>Marinesco-Sjögren syndrome (MSS) is a rare, autosomal recessive, multisystem disorder, which is characterized by cerebellar ataxia, early-onset bilateral cataracts, and progressive myopathy amongst other symptoms. MSS has been attributed to mutations in the SIL1 gene, which encodes a nucleotide …
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The Role of BiP Nucleotide Exchange Factor Sil1 in Immunoglobulin Biosynthesis
… disease upon discovery of mutations that lead to Marinesco-Sjögren Syndrome (MSS), a debilitating recessive disease characterized by severe cerebellar atrophy and a wide range of systemic defects. Now, many Sil1 mutations in MSS are known to result in interrupted BiP binding or Sil1 instability. …