• Jan Senderek, Michael Krieger, Claudia Stendel, Carsten Bergmann, Markus Moser, Nico Breitbach-Faller, Sabine Rudnik-Schöneborn, Astrid Blaschek, Nicole I Wolf, Inga Harting, Kathryn North, Janine Smith, Francesco Muntoni, Martin Brockington, Susana Quijano-Roy, Francis Renault, Ralf Herrmann, Linda M Hendershot, J Michael Schröder, Hanns Lochmüller, Haluk Topaloglu, Thomas Voit, Joachim Weis, Friedrich Ebinger, and Klaus Zerres.
• Department of Human Genetics, Aachen University of Technology, Aachen, Germany. jsenderek@ukaachen.de
• Nat. Genet. 2005 Dec 1; 37 (12): 1312-4.

AbstractSIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP (also called GRP78), which is a key regulator of the main functions of the endoplasmic reticulum. We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjögren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sjögren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders.

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